Variant report

Variant	nsv566071
Chromosome Location	chr14:105242831-105274763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1713)
CpG islands
(count:2504)
Chromatin interactive
region (count:68)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1713 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:105267351-105267421	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:105266730-105266731	HepG2	liver:	n/a	n/a
3	ATF2	chr14:105266430-105266704	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr14:105266229-105266578	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr14:105266536-105266942	GM12878	blood:	n/a	n/a
6	ATF3	chr14:105266555-105266971	K562	blood:	n/a	chr14:105266774-105266787
7	ATF3	chr14:105271774-105271994	K562	blood:	n/a	n/a
8	ATF3	chr14:105271732-105272084	K562	blood:	n/a	n/a
9	BACH1	chr14:105262944-105262977	K562	blood:	n/a	n/a
10	BACH1	chr14:105271717-105271917	K562	blood:	n/a	chr14:105271877-105271891
11	BACH1	chr14:105265908-105266571	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr14:105266377-105266454	K562	blood:	n/a	n/a
13	BACH1	chr14:105267244-105267817	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr14:105261472-105261498	H1-hESC	embryonic stem cell:	n/a	n/a
15	BHLHE40	chr14:105271634-105271962	K562	blood:	n/a	n/a
16	BHLHE40	chr14:105267194-105267456	GM12878	blood:	n/a	n/a
17	BHLHE40	chr14:105262625-105263043	HepG2	liver:	n/a	n/a
18	BHLHE40	chr14:105265744-105265882	K562	blood:	n/a	n/a
19	BHLHE40	chr14:105260395-105260733	K562	blood:	n/a	n/a
20	BHLHE40	chr14:105262155-105262338	K562	blood:	n/a	n/a
21	BHLHE40	chr14:105264103-105264248	HepG2	liver:	n/a	chr14:105264126-105264142 chr14:105264181-105264197
22	BHLHE40	chr14:105264118-105264190	K562	blood:	n/a	chr14:105264126-105264142
23	BHLHE40	chr14:105267264-105267669	HepG2	liver:	n/a	chr14:105267443-105267459
24	BHLHE40	chr14:105260460-105260712	HepG2	liver:	n/a	n/a
25	BHLHE40	chr14:105260432-105260582	GM12878	blood:	n/a	n/a
26	BHLHE40	chr14:105266540-105266816	K562	blood:	n/a	n/a
27	BHLHE40	chr14:105267263-105267649	K562	blood:	n/a	chr14:105267443-105267459
28	BRCA1	chr14:105262685-105262843	HepG2	liver:	n/a	n/a
29	BRCA1	chr14:105262304-105262403	GM12878	blood:	n/a	n/a
30	BRCA1	chr14:105267314-105267442	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr14:105266473-105266827	H1-hESC	embryonic stem cell:	n/a	chr14:105266658-105266667
32	BRCA1	chr14:105266018-105266215	HepG2	liver:	n/a	n/a
33	BRCA1	chr14:105266477-105266850	HepG2	liver:	n/a	chr14:105266658-105266667
34	BRCA1	chr14:105266540-105266785	GM12878	blood:	n/a	chr14:105266658-105266667
35	BRCA1	chr14:105267310-105267478	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr14:105266397-105266640	K562	blood:	n/a	n/a
37	CBX3	chr14:105271663-105271963	K562	blood:	n/a	n/a
38	CCNT2	chr14:105271647-105271957	K562	blood:	n/a	chr14:105271786-105271795
39	CCNT2	chr14:105261098-105262537	K562	blood:	n/a	n/a
40	CCNT2	chr14:105266425-105267547	K562	blood:	n/a	n/a
41	CEBPB	chr14:105260500-105260650	HepG2	liver:	n/a	n/a
42	CEBPB	chr14:105260443-105260789	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr14:105271786-105271967	Hela-S3	cervix:	n/a	n/a
44	CEBPD	chr14:105266411-105266985	K562	blood:	n/a	n/a
45	CEBPD	chr14:105266434-105267300	HepG2	liver:	n/a	n/a
46	CEBPD	chr14:105266518-105266879	HepG2	liver:	n/a	n/a
47	CEBPD	chr14:105263934-105264248	HepG2	liver:	n/a	n/a
48	CHD1	chr14:105262284-105262391	GM12878	blood:	n/a	n/a
49	CHD1	chr14:105267352-105267539	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr14:105262711-105262801	GM12878	blood:	n/a	n/a

(count:2504 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105266545-105266595	GM06990	blood:	n/a
2	chr14:105265793-105265843	HUVEC	blood vessel:	n/a
3	chr14:105271530-105271580	PANC-1	pancreas:	n/a
4	chr14:105266545-105266595	GM06990	blood:	n/a
5	chr14:105265793-105265843	HUVEC	blood vessel:	n/a
6	chr14:105271530-105271580	PANC-1	pancreas:	n/a
7	chr14:105261335-105261385	AG09309	skin:	n/a
8	chr14:105246532-105246582	ECC-1	luminal epithelium:	n/a
9	chr14:105265909-105265959	SAEC	small airway:	n/a
10	chr14:105266545-105266595	ECC-1	luminal epithelium:	n/a
11	chr14:105255285-105255335	NH-A	brain:	n/a
12	chr14:105255361-105255411	GM12878	blood:	n/a
13	chr14:105260146-105260196	GM12878	blood:	n/a
14	chr14:105262406-105262456	AG10803	skin:	n/a
15	chr14:105255472-105255522	HL-60	blood:	n/a
16	chr14:105269174-105269224	HEEpiC	esophagus:	n/a
17	chr14:105248634-105248684	AG04449	skin:	fetal
18	chr14:105255472-105255522	MCF-7	breast:	n/a
19	chr14:105247329-105247379	BJ	skin:	n/a
20	chr14:105255472-105255522	HRCEpiC	kidney:	n/a
21	chr14:105266900-105266950	HepG2	liver:	n/a
22	chr14:105265453-105265503	HepG2	liver:	n/a
23	chr14:105246708-105246758	HRCEpiC	kidney:	n/a
24	chr14:105255361-105255411	BJ	skin:	n/a
25	chr14:105266545-105266595	HUVEC	blood vessel:	n/a
26	chr14:105267586-105267636	HNPCEpiC	eye:	n/a
27	chr14:105255285-105255335	MCF10A-Er-Src	breast:	n/a
28	chr14:105267060-105267110	HCM	heart:	n/a
29	chr14:105244271-105244321	PrEC	prostate:	n/a
30	chr14:105255361-105255411	HL-60	blood:	n/a
31	chr14:105255251-105255301	GM19239	blood:	n/a
32	chr14:105244271-105244321	HCPEpiC	choroid plexus:	n/a
33	chr14:105268669-105268719	MCF10A-Er-Src	breast:	n/a
34	chr14:105267060-105267110	BE2_C	brain:	n/a
35	chr14:105262406-105262456	GM19239	blood:	n/a
36	chr14:105271530-105271580	NB4	blood:	n/a
37	chr14:105248634-105248684	ProgFib	skin:	n/a
38	chr14:105248634-105248684	HCT-116	colon:	n/a
39	chr14:105267060-105267110	MCF-7	breast:	n/a
40	chr14:105263522-105263572	A549	lung:	n/a
41	chr14:105265909-105265959	ECC-1	luminal epithelium:	n/a
42	chr14:105244271-105244321	SK-N-SH	brain:	n/a
43	chr14:105255361-105255411	HepG2	liver:	n/a
44	chr14:105261564-105261614	HPAEpiC	pulmonary alveolar:	n/a
45	chr14:105267586-105267636	HRCEpiC	kidney:	n/a
46	chr14:105261564-105261614	HIPEpiC	eye:	n/a
47	chr14:105247329-105247379	HRPEpiC	eye:	n/a
48	chr14:105247170-105247220	ProgFib	skin:	n/a
49	chr14:105255285-105255335	AG09309	skin:	n/a
50	chr14:105268669-105268719	AG04449	skin:	fetal

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:105250763..105252757-chr14:105330393..105333309,2	K562	blood:
2	chr14:105239243..105243388-chr14:105243994..105248690,7	MCF-7	breast:
3	chr14:105259095..105269353-chr14:105280422..105289302,26	K562	blood:
4	chr14:105271965..105273558-chr6:154674183..154677149,2	MCF-7	breast:
5	chr14:105189251..105191715-chr14:105260176..105263336,3	MCF-7	breast:
6	chr14:105217632..105222660-chr14:105263642..105269157,6	K562	blood:
7	chr14:105153557..105156541-chr14:105256308..105258985,3	MCF-7	breast:
8	chr14:105264148..105266055-chr14:105338238..105340290,2	K562	blood:
9	chr14:105265965..105267568-chr14:105442748..105445496,2	MCF-7	breast:
10	chr14:105265450..105268632-chr14:105270321..105274809,6	K562	blood:
11	chr14:104576831..104579461-chr14:105265082..105267856,2	MCF-7	breast:
12	chr14:105269764..105273524-chr14:105273712..105277284,3	K562	blood:
13	chr14:105269532..105276799-chr14:105278912..105285805,20	K562	blood:
14	chr14:105271769..105274271-chr14:105354431..105356106,2	MCF-7	breast:
15	chr14:105267306..105268128-chr14:105276242..105277034,2	MCF-7	breast:
16	chr14:105266435..105267408-chr14:105286766..105287693,2	MCF-7	breast:
17	chr14:105225795..105229361-chr14:105256802..105259047,3	K562	blood:
18	chr14:105219091..105223015-chr14:105243213..105247150,4	MCF-7	breast:
19	chr14:105269764..105273524-chr14:105273712..105277284,3	K562	blood:
20	chr14:105242733..105245405-chr14:105245728..105247914,2	MCF-7	breast:
21	chr14:105238572..105242731-chr14:105243797..105248047,10	MCF-7	breast:
22	chr14:105188315..105194275-chr14:105263600..105268559,9	MCF-7	breast:
23	chr14:105188668..105192164-chr14:105264427..105268088,6	MCF-7	breast:
24	chr14:105265110..105267765-chr14:105766806..105769681,2	K562	blood:
25	chr14:105145208..105149817-chr14:105259856..105263393,4	MCF-7	breast:
26	chr10:102825608..102826586-chr14:105261508..105262019,2	Hela-S3	cervix:
27	chr14:105265825..105268360-chr14:105330933..105332611,2	K562	blood:
28	chr14:105268427..105271161-chr14:105291567..105294333,2	K562	blood:
29	chr14:105189943..105192068-chr14:105271473..105274094,2	MCF-7	breast:
30	chr14:105183022..105185644-chr14:105256598..105259552,2	K562	blood:
31	chr14:105265912..105268902-chr14:105329301..105333250,7	MCF-7	breast:
32	chr14:105269866..105272402-chr8:125485710..125488000,2	MCF-7	breast:
33	chr14:105264903..105267195-chr14:105323456..105325361,2	MCF-7	breast:
34	chr14:105234733..105235477-chr14:105258446..105258985,2	MCF-7	breast:
35	chr14:105256932..105260148-chr14:105329998..105332768,3	MCF-7	breast:
36	chr14:105239243..105243388-chr14:105243994..105248690,7	MCF-7	breast:
37	chr14:105265057..105267677-chr3:49054198..49056753,2	MCF-7	breast:
38	chr14:105190071..105193724-chr14:105262102..105266779,4	K562	blood:
39	chr14:105151580..105154010-chr14:105263839..105266807,2	MCF-7	breast:
40	chr14:105219293..105222032-chr14:105260458..105263797,3	MCF-7	breast:
41	chr14:105175368..105177558-chr14:105266041..105268999,2	MCF-7	breast:
42	chr14:105264532..105267379-chr14:105360102..105364298,4	MCF-7	breast:
43	chr14:105268465..105270651-chr14:105635461..105637238,2	K562	blood:
44	chr14:104583312..104585180-chr14:105266957..105269171,2	MCF-7	breast:
45	chr14:105260375..105263562-chr14:105329763..105332955,5	MCF-7	breast:
46	chr14:105271797..105274173-chr16:57601210..57604193,2	MCF-7	breast:
47	chr14:105193685..105196531-chr14:105242046..105243557,2	MCF-7	breast:
48	chr1:153643198..153643841-chr14:105262172..105262866,2	Hela-S3	cervix:
49	chr14:105246961..105249735-chr14:105330074..105332395,2	MCF-7	breast:
50	chr14:105201310..105203058-chr14:105268966..105270769,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AHNAK2-7	chr14:105259850-105260598	NONHSAT040280
2	lnc-AHNAK2-7	chr14:105261348-105261381	NONHSAT040280

No data

Variant related genes	Relation type
ZBTB42	TF binding region
AKT1	TF binding region
ZBTB42	CpG island
AKT1	CpG island
ENSG00000185567	chromatin interactions
ENSG00000207568	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000258593	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000170779	chromatin interactions
ENSG00000166183	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000258701	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000203485	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000143621	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000185100	chromatin interactions
ENSG00000256050	chromatin interactions
ENSG00000142208	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000258430	chromatin interactions
ENSG00000179364	chromatin interactions

Extended variants
information (count: 1318 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1318 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3001371	chr14:105242831-105242832	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34664585	chr14:105242925-105242926	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs17846822	chr14:105242926-105242927	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376627827	chr14:105242949-105242950	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs527808900	chr14:105242950-105242951	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs2494735	chr14:105242966-105242967	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570889914	chr14:105242967-105242968	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs373853807	chr14:105242991-105242992	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs371266605	chr14:105242994-105242995	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs142646145	chr14:105243016-105243017	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs183989506	chr14:105243077-105243078	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs377076374	chr14:105243112-105243113	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs369750627	chr14:105243148-105243149	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs569822867	chr14:105243153-105243154	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs535254212	chr14:105243189-105243190	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs555540218	chr14:105243193-105243194	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs572015650	chr14:105243213-105243214	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs2498796	chr14:105243220-105243221	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557309882	chr14:105243261-105243262	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs190333080	chr14:105243352-105243353	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs546079856	chr14:105243360-105243361	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs61761184	chr14:105243368-105243369	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150630959	chr14:105243388-105243389	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs140027485	chr14:105243407-105243408	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs562325583	chr14:105243410-105243411	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs143588930	chr14:105243414-105243415	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs2498795	chr14:105243435-105243436	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570853418	chr14:105243511-105243512	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs2494736	chr14:105243565-105243566	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs181524832	chr14:105243572-105243573	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs569803373	chr14:105243588-105243589	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs535762765	chr14:105243589-105243590	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs148209792	chr14:105243605-105243606	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs139394329	chr14:105243606-105243607	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs149938880	chr14:105243623-105243624	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs565895714	chr14:105243624-105243625	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs534410853	chr14:105243643-105243644	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs377254104	chr14:105243657-105243658	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs145013396	chr14:105243675-105243676	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs557471636	chr14:105243707-105243708	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs150595302	chr14:105243718-105243719	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577328340	chr14:105243724-105243725	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs371304766	chr14:105243725-105243726	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs542970575	chr14:105243726-105243727	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs45576334	chr14:105243734-105243735	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs367946565	chr14:105243735-105243736	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs576628245	chr14:105243766-105243767	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs542541637	chr14:105243865-105243866	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs187624364	chr14:105243880-105243881	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs562118454	chr14:105243917-105243918	Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:2296 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105221600-105253800	Weak transcription	Psoas Muscle	Psoas
2	chr14:105221800-105248200	Weak transcription	Fetal Brain Male	brain
3	chr14:105235400-105251400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr14:105235400-105252600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:105235400-105259200	Strong transcription	NHLF	lung
6	chr14:105235400-105259400	Weak transcription	Right Atrium	heart
7	chr14:105235600-105244000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:105235600-105244200	Strong transcription	Fetal Brain Female	brain
9	chr14:105235600-105252600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:105235600-105255600	Strong transcription	Dnd41	blood
11	chr14:105235600-105257600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:105235800-105244000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:105235800-105249400	Strong transcription	Right Ventricle	heart
14	chr14:105236000-105243600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:105236000-105249600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr14:105236200-105243800	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:105236200-105244800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:105236200-105248400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:105236200-105249400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:105236400-105243600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr14:105236400-105247600	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr14:105236600-105247800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr14:105236800-105243400	Strong transcription	Brain Cingulate Gyrus	brain
24	chr14:105236800-105244600	Strong transcription	Primary T cells from cord blood	blood
25	chr14:105237000-105243000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:105237000-105243200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr14:105237000-105243400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:105237000-105249600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr14:105237200-105243200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:105237200-105243200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:105237200-105243600	Strong transcription	Brain Hippocampus Middle	brain
32	chr14:105237800-105243600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr14:105237800-105243600	Weak transcription	HMEC	breast
34	chr14:105238000-105243200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:105238000-105243400	Strong transcription	Ovary	ovary
36	chr14:105238000-105243600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:105238000-105243600	Strong transcription	Adipose Nuclei	Adipose
38	chr14:105238000-105244400	Strong transcription	Colonic Mucosa	Colon
39	chr14:105238000-105247200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:105238000-105248000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:105238000-105250600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:105238000-105254000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:105238000-105257400	Weak transcription	NH-A	brain
44	chr14:105238200-105243200	Strong transcription	Fetal Thymus	thymus
45	chr14:105238200-105243800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr14:105238200-105243800	Strong transcription	Fetal Stomach	stomach
47	chr14:105238200-105243800	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:105238200-105244800	Strong transcription	A549	lung
49	chr14:105238200-105248400	Strong transcription	Esophagus	oesophagus
50	chr14:105238200-105250200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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