Variant report

Variant	nsv902415
Chromosome Location	chr14:105250045-105270554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1363)
CpG islands
(count:1954)
Chromatin interactive
region (count:51)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1363 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

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	chr14:105266229-105266578	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr14:105266430-105266704	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	BACH1	chr14:105261472-105261498	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr14:105262944-105262977	K562	blood:	n/a	n/a
9	BACH1	chr14:105266377-105266454	K562	blood:	n/a	n/a
10	BACH1	chr14:105267244-105267817	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr14:105265908-105266571	H1-hESC	embryonic stem cell:	n/a	n/a
12	BHLHE40	chr14:105266540-105266816	K562	blood:	n/a	n/a
13	BHLHE40	chr14:105264103-105264248	HepG2	liver:	n/a	chr14:105264126-105264142 chr14:105264181-105264197
14	BHLHE40	chr14:105264118-105264190	K562	blood:	n/a	chr14:105264126-105264142
15	BHLHE40	chr14:105267194-105267456	GM12878	blood:	n/a	n/a
16	BHLHE40	chr14:105262155-105262338	K562	blood:	n/a	n/a
17	BHLHE40	chr14:105260432-105260582	GM12878	blood:	n/a	n/a
18	BHLHE40	chr14:105267263-105267649	K562	blood:	n/a	chr14:105267443-105267459
19	BHLHE40	chr14:105267264-105267669	HepG2	liver:	n/a	chr14:105267443-105267459
20	BHLHE40	chr14:105260460-105260712	HepG2	liver:	n/a	n/a
21	BHLHE40	chr14:105265744-105265882	K562	blood:	n/a	n/a
22	BHLHE40	chr14:105262625-105263043	HepG2	liver:	n/a	n/a
23	BHLHE40	chr14:105260395-105260733	K562	blood:	n/a	n/a
24	BRCA1	chr14:105266477-105266850	HepG2	liver:	n/a	chr14:105266658-105266667
25	BRCA1	chr14:105266473-105266827	H1-hESC	embryonic stem cell:	n/a	chr14:105266658-105266667
26	BRCA1	chr14:105266018-105266215	HepG2	liver:	n/a	n/a
27	BRCA1	chr14:105262304-105262403	GM12878	blood:	n/a	n/a
28	BRCA1	chr14:105267314-105267442	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr14:105267310-105267478	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr14:105262685-105262843	HepG2	liver:	n/a	n/a
31	BRCA1	chr14:105266540-105266785	GM12878	blood:	n/a	chr14:105266658-105266667
32	CBX3	chr14:105266397-105266640	K562	blood:	n/a	n/a
33	CCNT2	chr14:105261098-105262537	K562	blood:	n/a	n/a
34	CCNT2	chr14:105266425-105267547	K562	blood:	n/a	n/a
35	CEBPB	chr14:105260500-105260650	HepG2	liver:	n/a	n/a
36	CEBPB	chr14:105260443-105260789	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPD	chr14:105266411-105266985	K562	blood:	n/a	n/a
38	CEBPD	chr14:105263934-105264248	HepG2	liver:	n/a	n/a
39	CEBPD	chr14:105266518-105266879	HepG2	liver:	n/a	n/a
40	CEBPD	chr14:105266434-105267300	HepG2	liver:	n/a	n/a
41	CHD1	chr14:105262284-105262391	GM12878	blood:	n/a	n/a
42	CHD1	chr14:105261172-105261559	GM12878	blood:	n/a	n/a
43	CHD1	chr14:105262711-105262801	GM12878	blood:	n/a	n/a
44	CHD1	chr14:105267352-105267539	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr14:105265778-105266868	H1-hESC	embryonic stem cell:	n/a	chr14:105266658-105266667 chr14:105266855-105266865
46	CHD2	chr14:105261016-105261458	GM12878	blood:	n/a	n/a
47	CHD2	chr14:105262807-105263055	HepG2	liver:	n/a	n/a
48	CHD2	chr14:105260642-105260849	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr14:105262961-105263123	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr14:105267246-105267505	Hela-S3	cervix:	n/a	n/a

(count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105261564-105261614	HMEC	breast:	n/a
2	chr14:105258761-105258811	BJ	skin:	n/a
3	chr14:105261564-105261614	HMEC	breast:	n/a
4	chr14:105258761-105258811	BJ	skin:	n/a
5	chr14:105268604-105268654	SKMC	muscle:	n/a
6	chr14:105261564-105261614	PrEC	prostate:	n/a
7	chr14:105268669-105268719	Jurkat	blood:	n/a
8	chr14:105255361-105255411	AG10803	skin:	n/a
9	chr14:105251610-105251660	HPAEpiC	pulmonary alveolar:	n/a
10	chr14:105260146-105260196	HCF	heart:	n/a
11	chr14:105261335-105261385	NHBE	bronchial:	n/a
12	chr14:105255251-105255301	HCT-116	colon:	n/a
13	chr14:105267586-105267636	HCT-116	colon:	n/a
14	chr14:105262276-105262326	NB4	blood:	n/a
15	chr14:105259826-105259876	K562	blood:	n/a
16	chr14:105251610-105251660	Jurkat	blood:	n/a
17	chr14:105255361-105255411	HMEC	breast:	n/a
18	chr14:105251610-105251660	A549	lung:	n/a
19	chr14:105251402-105251452	BJ	skin:	n/a
20	chr14:105262269-105262319	HUVEC	blood vessel:	n/a
21	chr14:105268590-105268640	AoSMC	blood vessel:	n/a
22	chr14:105262406-105262456	A549	lung:	n/a
23	chr14:105268492-105268542	MCF10A-Er-Src	breast:	n/a
24	chr14:105265909-105265959	ovcar-3	ovarian:	n/a
25	chr14:105258761-105258811	GM19239	blood:	n/a
26	chr14:105266900-105266950	HRE	kidney:	n/a
27	chr14:105262406-105262456	GM06990	blood:	n/a
28	chr14:105261564-105261614	SKMC	muscle:	n/a
29	chr14:105265793-105265843	AG09309	skin:	n/a
30	chr14:105265909-105265959	NB4	blood:	n/a
31	chr14:105267060-105267110	Hela-S3	cervix:	n/a
32	chr14:105255472-105255522	HMEC	breast:	n/a
33	chr14:105266545-105266595	HRE	kidney:	n/a
34	chr14:105255285-105255335	HCPEpiC	choroid plexus:	n/a
35	chr14:105268669-105268719	NT2-D1	testis:	n/a
36	chr14:105259826-105259876	PFSK-1	brain:	n/a
37	chr14:105255285-105255335	NHBE	bronchial:	n/a
38	chr14:105251610-105251660	GM12891	blood:	n/a
39	chr14:105262348-105262398	AG04450	lung:	fetal
40	chr14:105255285-105255335	AG10803	skin:	n/a
41	chr14:105251610-105251660	ovcar-3	ovarian:	n/a
42	chr14:105266900-105266950	HCT-116	colon:	n/a
43	chr14:105265793-105265843	RPTEC	kidney:	n/a
44	chr14:105259826-105259876	HRPEpiC	eye:	n/a
45	chr14:105260146-105260196	IMR90	lung:	fetal
46	chr14:105262406-105262456	HAEpiC	amniotic membrane:	n/a
47	chr14:105269174-105269224	SK-N-MC	brain:	n/a
48	chr14:105259826-105259876	HCT-116	colon:	n/a
49	chr14:105266545-105266595	Hepatocyte	liver:	n/a
50	chr14:105251610-105251660	PFSK-1	brain:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:105201310..105203058-chr14:105268966..105270769,2	MCF-7	breast:
2	chr14:105256264..105258642-chr14:105340901..105342726,2	MCF-7	breast:
3	chr1:153643198..153643841-chr14:105262172..105262866,2	Hela-S3	cervix:
4	chr14:105260251..105263637-chr14:105331262..105334523,4	K562	blood:
5	chr14:105269866..105272402-chr8:125485710..125488000,2	MCF-7	breast:
6	chr14:105234268..105237912-chr14:105260331..105262677,3	K562	blood:
7	chr14:105259095..105269353-chr14:105280422..105289302,26	K562	blood:
8	chr14:105225795..105229361-chr14:105256802..105259047,3	K562	blood:
9	chr14:105217744..105223022-chr14:105270207..105275140,8	MCF-7	breast:
10	chr14:105256932..105260148-chr14:105329998..105332768,3	MCF-7	breast:
11	chr14:105269496..105271727-chr14:105330023..105331660,2	MCF-7	breast:
12	chr14:105265450..105268632-chr14:105270321..105274809,6	K562	blood:
13	chr14:105267362..105269092-chr14:105436440..105438681,2	MCF-7	breast:
14	chr14:105264148..105266055-chr14:105338238..105340290,2	K562	blood:
15	chr14:105260375..105263562-chr14:105329763..105332955,5	MCF-7	breast:
16	chr14:105268427..105271161-chr14:105291567..105294333,2	K562	blood:
17	chr14:105261442..105265036-chr14:105329931..105332556,6	MCF-7	breast:
18	chr14:105264532..105267379-chr14:105360102..105364298,4	MCF-7	breast:
19	chr14:105145208..105149817-chr14:105259856..105263393,4	MCF-7	breast:
20	chr14:105265965..105267568-chr14:105442748..105445496,2	MCF-7	breast:
21	chr14:105219293..105222032-chr14:105260458..105263797,3	MCF-7	breast:
22	chr14:105234940..105235480-chr14:105259351..105260008,2	MCF-7	breast:
23	chr14:105151580..105154010-chr14:105263839..105266807,2	MCF-7	breast:
24	chr14:105188315..105194275-chr14:105263600..105268559,9	MCF-7	breast:
25	chr14:105175368..105177558-chr14:105266041..105268999,2	MCF-7	breast:
26	chr14:105269764..105273524-chr14:105273712..105277284,3	K562	blood:
27	chr14:105153557..105156541-chr14:105256308..105258985,3	MCF-7	breast:
28	chr14:105269532..105276799-chr14:105278912..105285805,20	K562	blood:
29	chr14:105250763..105252757-chr14:105330393..105333309,2	K562	blood:
30	chr14:105266268..105268334-chr14:105486957..105488737,2	K562	blood:
31	chr14:105267306..105268128-chr14:105276242..105277034,2	MCF-7	breast:
32	chr14:105188879..105190553-chr14:105260910..105263562,2	MCF-7	breast:
33	chr14:105265057..105267677-chr3:49054198..49056753,2	MCF-7	breast:
34	chr14:105266435..105267408-chr14:105286766..105287693,2	MCF-7	breast:
35	chr10:102825608..102826586-chr14:105261508..105262019,2	Hela-S3	cervix:
36	chr14:105190071..105193724-chr14:105262102..105266779,4	K562	blood:
37	chr14:105189251..105191715-chr14:105260176..105263336,3	MCF-7	breast:
38	chr14:105268465..105270651-chr14:105635461..105637238,2	K562	blood:
39	chr14:105234733..105235477-chr14:105258446..105258985,2	MCF-7	breast:
40	chr14:105265912..105268902-chr14:105329301..105333250,7	MCF-7	breast:
41	chr14:104583312..104585180-chr14:105266957..105269171,2	MCF-7	breast:
42	chr14:105217632..105222660-chr14:105263642..105269157,6	K562	blood:
43	chr14:105183022..105185644-chr14:105256598..105259552,2	K562	blood:
44	chr14:105265110..105267765-chr14:105766806..105769681,2	K562	blood:
45	chr14:105264903..105267195-chr14:105323456..105325361,2	MCF-7	breast:
46	chr14:105217901..105222027-chr14:105264438..105269623,6	K562	blood:
47	chr14:105270335..105272175-chr14:105398279..105400751,2	K562	blood:
48	chr14:105216947..105220630-chr14:105265563..105270028,6	MCF-7	breast:
49	chr14:105188668..105192164-chr14:105264427..105268088,6	MCF-7	breast:
50	chr14:105265825..105268360-chr14:105330933..105332611,2	K562	blood:

(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
ENSG00000185100	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000258701	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000258593	chromatin interactions
ENSG00000143621	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000166183	chromatin interactions
ENSG00000179364	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000258430	chromatin interactions
ENSG00000207568	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000203485	chromatin interactions
ENSG00000256050	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000170779	chromatin interactions

Extended variants
information (count: 769 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2498789	chr14:105250045-105250046	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552967868	chr14:105250053-105250054	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572789384	chr14:105250061-105250062	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182486805	chr14:105250099-105250100	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188455638	chr14:105250131-105250132	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575387152	chr14:105250158-105250159	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544403535	chr14:105250159-105250160	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560917853	chr14:105250213-105250214	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374668787	chr14:105250223-105250224	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61759796	chr14:105250229-105250230	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546584997	chr14:105250246-105250247	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560219741	chr14:105250259-105250260	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192682199	chr14:105250297-105250298	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551828444	chr14:105250299-105250300	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571919277	chr14:105250304-105250305	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs5811153	chr14:105250370-105250371	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34907636	chr14:105250372-105250373	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61417473	chr14:105250375-105250376	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537200802	chr14:105250386-105250387	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550781846	chr14:105250419-105250420	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs567386077	chr14:105250426-105250427	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs113750262	chr14:105250439-105250440	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs367784990	chr14:105250450-105250451	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs575052198	chr14:105250576-105250577	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs61759795	chr14:105250644-105250645	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs61759794	chr14:105250655-105250656	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs544004241	chr14:105250699-105250700	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs61759793	chr14:105250724-105250725	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556663702	chr14:105250738-105250739	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs558612575	chr14:105250745-105250746	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs144187261	chr14:105250750-105250751	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs554388361	chr14:105250768-105250769	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558533234	chr14:105250790-105250791	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573785599	chr14:105250795-105250796	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184690341	chr14:105250807-105250808	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs148686406	chr14:105250824-105250825	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375949641	chr14:105250847-105250848	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561082543	chr14:105250903-105250904	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145970556	chr14:105250925-105250926	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188457850	chr14:105250940-105250941	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs61759792	chr14:105250952-105250953	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559677618	chr14:105250953-105250954	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531970100	chr14:105250968-105250969	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372707603	chr14:105251013-105251014	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369277554	chr14:105251065-105251066	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10149779	chr14:105251086-105251087	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs61759791	chr14:105251102-105251103	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369745846	chr14:105251124-105251125	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550743211	chr14:105251135-105251136	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545648924	chr14:105251137-105251138	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:1978 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105221600-105253800	Weak transcription	Psoas Muscle	Psoas
2	chr14:105235400-105251400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr14:105235400-105252600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:105235400-105259200	Strong transcription	NHLF	lung
5	chr14:105235400-105259400	Weak transcription	Right Atrium	heart
6	chr14:105235600-105252600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:105235600-105255600	Strong transcription	Dnd41	blood
8	chr14:105235600-105257600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:105238000-105250600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:105238000-105254000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:105238000-105257400	Weak transcription	NH-A	brain
12	chr14:105238200-105250200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:105238200-105258800	Strong transcription	Fetal Intestine Large	intestine
14	chr14:105238200-105259800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:105238400-105250600	Strong transcription	Liver	Liver
16	chr14:105238600-105250600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:105238600-105259600	Strong transcription	Fetal Intestine Small	intestine
18	chr14:105238800-105251200	Weak transcription	Stomach Mucosa	stomach
19	chr14:105238800-105258000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:105238800-105258600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:105239000-105251800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:105239000-105253800	Weak transcription	Hela-S3	cervix
23	chr14:105239000-105256800	Weak transcription	NHDF-Ad	bronchial
24	chr14:105239200-105251000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:105239400-105255600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:105239600-105250600	Strong transcription	Lung	lung
27	chr14:105239600-105250600	Strong transcription	Spleen	Spleen
28	chr14:105239600-105252600	Weak transcription	HSMMtube	muscle
29	chr14:105239800-105253600	Weak transcription	Osteobl	bone
30	chr14:105239800-105256800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:105239800-105256800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:105240000-105259800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:105240200-105253200	Weak transcription	Primary B cells from cord blood	blood
34	chr14:105240800-105252200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr14:105241800-105252400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:105242200-105250600	Weak transcription	Brain Anterior Caudate	brain
37	chr14:105242200-105252000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:105242200-105255600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:105242400-105254000	Weak transcription	HepG2	liver
40	chr14:105242400-105256200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:105242800-105259800	Weak transcription	K562	blood
42	chr14:105243000-105255800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:105243200-105250800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:105243200-105256000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:105243400-105253600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:105243400-105253600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:105243400-105258800	Weak transcription	HUVEC	blood vessel
48	chr14:105243400-105259800	Weak transcription	Aorta	Aorta
49	chr14:105243600-105251200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr14:105243600-105252000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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