Variant report

Variant	nsv566072
Chromosome Location	chr14:105245251-105274712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1608)
CpG islands
(count:2447)
Chromatin interactive
region (count:65)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1608 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

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

(count:2447 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105261564-105261614	GM06990	blood:	n/a
2	chr14:105263522-105263572	SKMC	muscle:	n/a
3	chr14:105268590-105268640	SKMC	muscle:	n/a
4	chr14:105260146-105260196	SK-N-MC	brain:	n/a
5	chr14:105269174-105269224	RPTEC	kidney:	n/a
6	chr14:105259826-105259876	SKMC	muscle:	n/a
7	chr14:105255361-105255411	AG09309	skin:	n/a
8	chr14:105261564-105261614	GM06990	blood:	n/a
9	chr14:105263522-105263572	SKMC	muscle:	n/a
10	chr14:105268590-105268640	SKMC	muscle:	n/a
11	chr14:105260146-105260196	SK-N-MC	brain:	n/a
12	chr14:105269174-105269224	RPTEC	kidney:	n/a
13	chr14:105259826-105259876	SKMC	muscle:	n/a
14	chr14:105255361-105255411	AG09309	skin:	n/a
15	chr14:105265909-105265959	MCF-7	breast:	n/a
16	chr14:105262406-105262456	GM19239	blood:	n/a
17	chr14:105267060-105267110	Hela-S3	cervix:	n/a
18	chr14:105265909-105265959	HepG2	liver:	n/a
19	chr14:105248634-105248684	HUVEC	blood vessel:	n/a
20	chr14:105268604-105268654	ovcar-3	ovarian:	n/a
21	chr14:105268492-105268542	SAEC	small airway:	n/a
22	chr14:105246532-105246582	A549	lung:	n/a
23	chr14:105246708-105246758	RPTEC	kidney:	n/a
24	chr14:105268604-105268654	IMR90	lung:	fetal
25	chr14:105255285-105255335	HEEpiC	esophagus:	n/a
26	chr14:105262348-105262398	GM12892	blood:	n/a
27	chr14:105268669-105268719	GM19239	blood:	n/a
28	chr14:105248634-105248684	SK-N-MC	brain:	n/a
29	chr14:105260146-105260196	PrEC	prostate:	n/a
30	chr14:105262348-105262398	AG09309	skin:	n/a
31	chr14:105268492-105268542	AoSMC	blood vessel:	n/a
32	chr14:105265453-105265503	SK-N-SH	brain:	n/a
33	chr14:105246561-105246611	U87	brain:	n/a
34	chr14:105266900-105266950	Hepatocyte	liver:	n/a
35	chr14:105246532-105246582	CMK	blood:	n/a
36	chr14:105251188-105251238	AG09319	gingival:	n/a
37	chr14:105271530-105271580	AoSMC	blood vessel:	n/a
38	chr14:105268669-105268719	NHBE	bronchial:	n/a
39	chr14:105266545-105266595	AG10803	skin:	n/a
40	chr14:105259826-105259876	Hela-S3	cervix:	n/a
41	chr14:105267060-105267110	HCT-116	colon:	n/a
42	chr14:105251610-105251660	SAEC	small airway:	n/a
43	chr14:105271530-105271580	MCF-7	breast:	n/a
44	chr14:105246561-105246611	BE2_C	brain:	n/a
45	chr14:105262348-105262398	NH-A	brain:	n/a
46	chr14:105246561-105246611	SAEC	small airway:	n/a
47	chr14:105248634-105248684	HCF	heart:	n/a
48	chr14:105262276-105262326	HRCEpiC	kidney:	n/a
49	chr14:105268492-105268542	MCF-7	breast:	n/a
50	chr14:105263522-105263572	HNPCEpiC	eye:	n/a

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:105267306..105268128-chr14:105276242..105277034,2	MCF-7	breast:
2	chr14:104576831..104579461-chr14:105265082..105267856,2	MCF-7	breast:
3	chr14:105216947..105220630-chr14:105265563..105270028,6	MCF-7	breast:
4	chr14:105217744..105223022-chr14:105270207..105275140,8	MCF-7	breast:
5	chr10:102825608..102826586-chr14:105261508..105262019,2	Hela-S3	cervix:
6	chr14:105234940..105235480-chr14:105259351..105260008,2	MCF-7	breast:
7	chr14:105270335..105272175-chr14:105398279..105400751,2	K562	blood:
8	chr14:105219293..105222032-chr14:105260458..105263797,3	MCF-7	breast:
9	chr14:105265965..105267568-chr14:105442748..105445496,2	MCF-7	breast:
10	chr14:105247569..105249557-chr14:105347096..105349716,2	K562	blood:
11	chr14:105272099..105273937-chr14:105275097..105277175,2	K562	blood:
12	chr14:105256264..105258642-chr14:105340901..105342726,2	MCF-7	breast:
13	chr14:105234733..105235477-chr14:105258446..105258985,2	MCF-7	breast:
14	chr14:105225795..105229361-chr14:105256802..105259047,3	K562	blood:
15	chr14:105259095..105269353-chr14:105280422..105289302,26	K562	blood:
16	chr14:105269496..105271727-chr14:105330023..105331660,2	MCF-7	breast:
17	chr14:105264148..105266055-chr14:105338238..105340290,2	K562	blood:
18	chr14:104583312..104585180-chr14:105266957..105269171,2	MCF-7	breast:
19	chr14:105246961..105249735-chr14:105330074..105332395,2	MCF-7	breast:
20	chr14:105269532..105276799-chr14:105278912..105285805,20	K562	blood:
21	chr14:105190071..105193724-chr14:105262102..105266779,4	K562	blood:
22	chr14:105268427..105271161-chr14:105291567..105294333,2	K562	blood:
23	chr14:105265912..105268902-chr14:105329301..105333250,7	MCF-7	breast:
24	chr14:105219091..105223015-chr14:105243213..105247150,4	MCF-7	breast:
25	chr14:105260375..105263562-chr14:105329763..105332955,5	MCF-7	breast:
26	chr14:105175368..105177558-chr14:105266041..105268999,2	MCF-7	breast:
27	chr14:105272219..105273865-chr9:134838230..134839731,2	MCF-7	breast:
28	chr14:105256932..105260148-chr14:105329998..105332768,3	MCF-7	breast:
29	chr14:105268465..105270651-chr14:105635461..105637238,2	K562	blood:
30	chr14:105269764..105273524-chr14:105273712..105277284,3	K562	blood:
31	chr14:105189251..105191715-chr14:105260176..105263336,3	MCF-7	breast:
32	chr14:105265825..105268360-chr14:105330933..105332611,2	K562	blood:
33	chr14:105217632..105222660-chr14:105263642..105269157,6	K562	blood:
34	chr14:105264532..105267379-chr14:105360102..105364298,4	MCF-7	breast:
35	chr14:105189943..105192068-chr14:105271473..105274094,2	MCF-7	breast:
36	chr14:105188668..105192164-chr14:105264427..105268088,6	MCF-7	breast:
37	chr14:105151580..105154010-chr14:105263839..105266807,2	MCF-7	breast:
38	chr14:105239243..105243388-chr14:105243994..105248690,7	MCF-7	breast:
39	chr14:105265110..105267765-chr14:105766806..105769681,2	K562	blood:
40	chr14:105271797..105274173-chr16:57601210..57604193,2	MCF-7	breast:
41	chr14:105266268..105268334-chr14:105486957..105488737,2	K562	blood:
42	chr14:105266435..105267408-chr14:105286766..105287693,2	MCF-7	breast:
43	chr14:105145208..105149817-chr14:105259856..105263393,4	MCF-7	breast:
44	chr1:153643198..153643841-chr14:105262172..105262866,2	Hela-S3	cervix:
45	chr14:105153557..105156541-chr14:105256308..105258985,3	MCF-7	breast:
46	chr14:105188879..105190553-chr14:105260910..105263562,2	MCF-7	breast:
47	chr14:105265057..105267677-chr3:49054198..49056753,2	MCF-7	breast:
48	chr14:105269866..105272402-chr8:125485710..125488000,2	MCF-7	breast:
49	chr14:105238572..105242731-chr14:105243797..105248047,10	MCF-7	breast:
50	chr14:105188315..105194275-chr14:105263600..105268559,9	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
ENSG00000143621	chromatin interactions
ENSG00000207568	chromatin interactions
ENSG00000185100	chromatin interactions
ENSG00000203485	chromatin interactions
ENSG00000258593	chromatin interactions
ENSG00000142208	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000166183	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000179364	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000170779	chromatin interactions
ENSG00000258701	chromatin interactions
ENSG00000256050	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000258430	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000185024	chromatin interactions

Extended variants
information (count: 1189 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1189 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2498794	chr14:105245251-105245252	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574048074	chr14:105245334-105245335	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs74090023	chr14:105245347-105245348	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs141168410	chr14:105245348-105245349	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs186811288	chr14:105245425-105245426	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs535723726	chr14:105245435-105245436	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs35478693	chr14:105245473-105245474	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs544891932	chr14:105245510-105245511	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs116498051	chr14:105245553-105245554	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs530714968	chr14:105245586-105245587	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs544366304	chr14:105245600-105245601	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs368628311	chr14:105245676-105245677	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs146926204	chr14:105245685-105245686	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs549285779	chr14:105245710-105245711	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs139375034	chr14:105245904-105245905	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs566467042	chr14:105245931-105245932	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs28379051	chr14:105245943-105245944	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs12437017	chr14:105245951-105245952	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs114396289	chr14:105245961-105245962	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs111268345	chr14:105245969-105245970	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs114064882	chr14:105245993-105245994	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs532106276	chr14:105246015-105246016	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs76347513	chr14:105246016-105246017	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs552205457	chr14:105246022-105246023	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs112766153	chr14:105246049-105246050	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs12436999	chr14:105246051-105246052	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs11851662	chr14:105246076-105246077	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs377294129	chr14:105246142-105246143	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs149603202	chr14:105246147-105246148	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs567793825	chr14:105246243-105246244	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs184236645	chr14:105246283-105246284	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372320667	chr14:105246308-105246309	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs2494737	chr14:105246325-105246326	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189512837	chr14:105246340-105246341	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs376760040	chr14:105246350-105246351	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs558548471	chr14:105246355-105246356	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs565826888	chr14:105246366-105246367	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs544213341	chr14:105246378-105246379	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs17846818	chr14:105246384-105246385	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs367701380	chr14:105246387-105246388	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs35858243	chr14:105246399-105246400	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs143315363	chr14:105246402-105246403	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs3730358	chr14:105246407-105246408	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370511659	chr14:105246411-105246412	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs560243859	chr14:105246426-105246427	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs374093099	chr14:105246458-105246459	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs532268608	chr14:105246459-105246460	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs146875699	chr14:105246462-105246463	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs11555436	chr14:105246473-105246474	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs375645311	chr14:105246474-105246475	Weak transcription Strong transcription Genic enhancers	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:2205 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

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	chr14:105235600-105252600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:105235600-105255600	Strong transcription	Dnd41	blood
9	chr14:105235600-105257600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:105235800-105249400	Strong transcription	Right Ventricle	heart
11	chr14:105236000-105249600	Strong transcription	Stomach Smooth Muscle	stomach
12	chr14:105236200-105248400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:105236200-105249400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:105236400-105247600	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr14:105236600-105247800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr14:105237000-105249600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr14:105238000-105247200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:105238000-105248000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:105238000-105250600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:105238000-105254000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:105238000-105257400	Weak transcription	NH-A	brain
22	chr14:105238200-105248400	Strong transcription	Esophagus	oesophagus
23	chr14:105238200-105250200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:105238200-105258800	Strong transcription	Fetal Intestine Large	intestine
25	chr14:105238200-105259800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:105238400-105247400	Strong transcription	Brain Germinal Matrix	brain
27	chr14:105238400-105250600	Strong transcription	Liver	Liver
28	chr14:105238600-105246000	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:105238600-105248400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:105238600-105250600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:105238600-105259600	Strong transcription	Fetal Intestine Small	intestine
32	chr14:105238800-105247000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:105238800-105251200	Weak transcription	Stomach Mucosa	stomach
34	chr14:105238800-105258000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:105238800-105258600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:105239000-105246800	Weak transcription	GM12878-XiMat	blood
37	chr14:105239000-105251800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:105239000-105253800	Weak transcription	Hela-S3	cervix
39	chr14:105239000-105256800	Weak transcription	NHDF-Ad	bronchial
40	chr14:105239200-105251000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:105239400-105255600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:105239600-105246000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:105239600-105246600	Weak transcription	Small Intestine	intestine
44	chr14:105239600-105250600	Strong transcription	Lung	lung
45	chr14:105239600-105250600	Strong transcription	Spleen	Spleen
46	chr14:105239600-105252600	Weak transcription	HSMMtube	muscle
47	chr14:105239800-105253600	Weak transcription	Osteobl	bone
48	chr14:105239800-105256800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:105239800-105256800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:105240000-105245600	Enhancers	Pancreas	Pancrea

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