Variant report

Variant	nsv967108
Chromosome Location	chr3:196255474-196263970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:196255645-196256010	K562	blood:	n/a	n/a
2	ATF2	chr3:196259971-196260565	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr3:196255377-196256066	GM12878	blood:	n/a	n/a
4	ATF2	chr3:196259925-196260624	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr3:196255602-196256025	A549	lung:	n/a	n/a
6	BACH1	chr3:196255561-196255850	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL11A	chr3:196260111-196260415	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr3:196255328-196256090	GM12878	blood:	n/a	chr3:196255700-196255709 chr3:196255697-196255710 chr3:196255770-196255783
9	BHLHE40	chr3:196255466-196256011	K562	blood:	n/a	chr3:196255764-196255780 chr3:196255835-196255851
10	BRCA1	chr3:196255705-196255903	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr3:196255747-196255889	H1-hESC	embryonic stem cell:	n/a	n/a
12	CBX3	chr3:196255387-196256033	K562	blood:	n/a	n/a
13	CCNT2	chr3:196255514-196255995	K562	blood:	n/a	n/a
14	CEBPB	chr3:196255647-196256124	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr3:196259843-196260535	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPD	chr3:196260316-196260613	K562	blood:	n/a	n/a
17	CHD1	chr3:196255724-196255737	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr3:196255684-196255897	GM12878	blood:	n/a	n/a
19	CHD2	chr3:196255553-196256033	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr3:196255861-196255889	HepG2	liver:	n/a	n/a
21	CHD2	chr3:196255631-196256028	K562	blood:	n/a	n/a
22	CHD2	chr3:196255902-196255996	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr3:196260172-196260585	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr3:196255359-196256021	A549	lung:	n/a	n/a
25	CREB1	chr3:196255696-196255949	A549	lung:	n/a	n/a
26	CTBP2	chr3:196255490-196256177	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTBP2	chr3:196260087-196260619	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr3:196255471-196256029	T-47D	breast:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
29	CTCF	chr3:196255720-196255870	A549	lung:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
30	CTCF	chr3:196255780-196255930	SAEC	small airway:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
31	CTCF	chr3:196255380-196255530	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr3:196255720-196255870	HRPEpiC	eye:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
33	CTCF	chr3:196255660-196255810	GM12878	blood:	n/a	n/a
34	CTCF	chr3:196255740-196255890	SK-N-SH_RA	brain:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
35	CTCF	chr3:196255720-196255870	GM12872	blood:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
36	CTCF	chr3:196255360-196255510	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr3:196255800-196255950	GM06990	blood:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
38	CTCF	chr3:196263639-196263701	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr3:196255588-196256005	IMR90	lung:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
40	CTCF	chr3:196255700-196255850	HPAF	blood vessel:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
41	CTCF	chr3:196255360-196255510	BJ	skin:	n/a	n/a
42	CTCF	chr3:196255720-196255870	HMEC	breast:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
43	CTCF	chr3:196255634-196255953	Fibrobl	skin:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
44	CTCF	chr3:196255668-196255922	GM10248	blood:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
45	CTCF	chr3:196255740-196255890	AoAF	blood vessel:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
46	CTCF	chr3:196255660-196255810	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr3:196255694-196255939	Kidney_OC	kidney:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
48	CTCF	chr3:196255720-196255870	HA-sp	spinal cord:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
49	CTCF	chr3:196263630-196263707	GM10248	blood:	n/a	n/a
50	CTCF	chr3:196255760-196255910	HEEpiC	esophagus:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:196256223-196256273	SK-N-MC	brain:	n/a
2	chr3:196256223-196256273	SK-N-MC	brain:	n/a
3	chr3:196255632-196255682	BE2_C	brain:	n/a
4	chr3:196260501-196260551	AoSMC	blood vessel:	n/a
5	chr3:196255907-196255957	ovcar-3	ovarian:	n/a
6	chr3:196258161-196258211	AoSMC	blood vessel:	n/a
7	chr3:196255907-196255957	Hela-S3	cervix:	n/a
8	chr3:196255998-196256048	HIPEpiC	eye:	n/a
9	chr3:196255632-196255682	NH-A	brain:	n/a
10	chr3:196263520-196263570	HRE	kidney:	n/a
11	chr3:196258161-196258211	HepG2	liver:	n/a
12	chr3:196260501-196260551	LNCaP	prostate:	n/a
13	chr3:196255907-196255957	GM12891	blood:	n/a
14	chr3:196263520-196263570	NH-A	brain:	n/a
15	chr3:196255632-196255682	AG10803	skin:	n/a
16	chr3:196263520-196263570	HIPEpiC	eye:	n/a
17	chr3:196255632-196255682	HCM	heart:	n/a
18	chr3:196263520-196263570	ProgFib	skin:	n/a
19	chr3:196255998-196256048	HCM	heart:	n/a
20	chr3:196255632-196255682	K562	blood:	n/a
21	chr3:196263520-196263570	AG09309	skin:	n/a
22	chr3:196255632-196255682	HepG2	liver:	n/a
23	chr3:196263520-196263570	A549	lung:	n/a
24	chr3:196255632-196255682	HNPCEpiC	eye:	n/a
25	chr3:196255998-196256048	NT2-D1	testis:	n/a
26	chr3:196255632-196255682	BJ	skin:	n/a
27	chr3:196255998-196256048	GM19239	blood:	n/a
28	chr3:196255632-196255682	Jurkat	blood:	n/a
29	chr3:196255632-196255682	HMEC	breast:	n/a
30	chr3:196256012-196256062	HEK293	kidney:	embryo
31	chr3:196260501-196260551	Hepatocyte	liver:	n/a
32	chr3:196255632-196255682	SK-N-MC	brain:	n/a
33	chr3:196256012-196256062	PANC-1	pancreas:	n/a
34	chr3:196258161-196258211	HMEC	breast:	n/a
35	chr3:196255632-196255682	AG09309	skin:	n/a
36	chr3:196255998-196256048	Hepatocyte	liver:	n/a
37	chr3:196263520-196263570	SK-N-MC	brain:	n/a
38	chr3:196263520-196263570	Hepatocyte	liver:	n/a
39	chr3:196255998-196256048	AG04449	skin:	fetal
40	chr3:196263520-196263570	BJ	skin:	n/a
41	chr3:196256012-196256062	GM12892	blood:	n/a
42	chr3:196256012-196256062	HL-60	blood:	n/a
43	chr3:196260501-196260551	NB4	blood:	n/a
44	chr3:196256223-196256273	AG09309	skin:	n/a
45	chr3:196256012-196256062	HepG2	liver:	n/a
46	chr3:196255907-196255957	HUVEC	blood vessel:	n/a
47	chr3:196263520-196263570	U87	brain:	n/a
48	chr3:196255632-196255682	SKMC	muscle:	n/a
49	chr3:196255998-196256048	AG09309	skin:	n/a
50	chr3:196256223-196256273	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:196250537..196252954-chr3:196257555..196260247,2	K562	blood:
2	chr3:196255847..196257386-chr3:196258042..196259736,2	K562	blood:
3	chr3:196255103..196257452-chr3:196261035..196263055,2	K562	blood:
4	chr3:196253926..196256027-chr3:196295277..196297106,2	K562	blood:
5	chr3:196255847..196257386-chr3:196258042..196259736,2	K562	blood:
6	chr3:196255773..196256767-chr3:196411387..196411995,2	K562	blood:
7	chr3:196256161..196258793-chr3:196292784..196296820,3	MCF-7	breast:
8	chr3:196259672..196262554-chr3:196667256..196669861,2	K562	blood:
9	chr2:55276186..55276706-chr3:196255375..196256006,2	HCT-116	colon:
10	chr3:196257095..196258753-chr3:196293641..196295458,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf43-1	chr3:196255412-196255662	NONHSAT094347

Variant related genes	Relation type
ENSG00000213358	TF binding region
ENSG00000225770	TF binding region
ENSG00000213358	CpG island
ENSG00000225770	CpG island
ENSG00000270170	chromatin interactions
ENSG00000185798	chromatin interactions
ENSG00000174013	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000213358	chromatin interactions
ENSG00000114503	chromatin interactions

Extended variants
information (count: 414 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568298881	chr3:196255490-196255491	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs558032914	chr3:196255542-196255543	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs115770441	chr3:196255555-196255556	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs139229570	chr3:196255562-196255563	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs59328777	chr3:196255606-196255607	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs6583314	chr3:196255639-196255640	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs58400165	chr3:196255709-196255710	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541013153	chr3:196255712-196255713	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs11711952	chr3:196255734-196255735	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs62410574	chr3:196255761-196255762	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs113377631	chr3:196255773-196255774	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs7625068	chr3:196255796-196255797	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531110008	chr3:196255799-196255800	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs368880842	chr3:196255826-196255827	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs561362782	chr3:196255837-196255838	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs528635995	chr3:196255839-196255840	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs547078532	chr3:196255842-196255843	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs571501430	chr3:196255861-196255862	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs386670188	chr3:196255862-196255863	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs9839347	chr3:196255870-196255871	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569645784	chr3:196255939-196255940	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs202199751	chr3:196255954-196255955	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs77266815	chr3:196255968-196255969	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs573511306	chr3:196256035-196256036	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs145350043	chr3:196256039-196256040	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs78862873	chr3:196256076-196256077	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs577531784	chr3:196256112-196256113	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs73219660	chr3:196256121-196256122	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183865377	chr3:196256159-196256160	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs140802340	chr3:196256167-196256168	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs9866935	chr3:196256173-196256174	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187620687	chr3:196256231-196256232	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs147678697	chr3:196256246-196256247	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs13324553	chr3:196256275-196256276	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs559054191	chr3:196256298-196256299	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs565415300	chr3:196256313-196256314	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs377061690	chr3:196256356-196256357	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs141423789	chr3:196256363-196256364	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs55893834	chr3:196256367-196256368	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs192688123	chr3:196256400-196256401	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs569607093	chr3:196256443-196256444	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183212162	chr3:196256476-196256477	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs56264978	chr3:196256488-196256489	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs186951542	chr3:196256502-196256503	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201507165	chr3:196256523-196256524	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs144986431	chr3:196256562-196256563	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs149090102	chr3:196256571-196256572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376197303	chr3:196256573-196256574	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs558318711	chr3:196256574-196256575	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs373899982	chr3:196256588-196256589	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196254600-196255600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:196254600-196255800	Enhancers	HepG2	liver
3	chr3:196255000-196256000	Active TSS	K562	blood
4	chr3:196255000-196256200	Active TSS	A549	lung
5	chr3:196255200-196255600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:196255200-196256200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr3:196255200-196256200	Enhancers	Primary B cells from cord blood	blood
8	chr3:196255400-196255600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
9	chr3:196255400-196255600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:196255400-196255600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:196255400-196255600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:196255400-196255600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:196255400-196255600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:196255400-196255600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:196255400-196255600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr3:196255400-196255600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr3:196255400-196255600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:196255400-196255600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr3:196255400-196255600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr3:196255400-196255600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:196255400-196255600	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr3:196255400-196255600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:196255400-196255600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:196255400-196255600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:196255400-196255600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr3:196255400-196255600	Active TSS	Brain Angular Gyrus	brain
27	chr3:196255400-196255600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:196255400-196255600	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr3:196255400-196255600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr3:196255400-196255600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
31	chr3:196255400-196255600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr3:196255400-196255600	Flanking Active TSS	GM12878-XiMat	blood
33	chr3:196255400-196255600	Flanking Active TSS	NH-A	brain
34	chr3:196255400-196255600	Flanking Active TSS	NHEK	skin
35	chr3:196255400-196255600	Flanking Active TSS	NHLF	lung
36	chr3:196255400-196255600	Flanking Active TSS	Osteobl	bone
37	chr3:196255400-196255800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr3:196255400-196255800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:196255400-196255800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:196255400-196255800	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr3:196255400-196255800	Active TSS	Brain Hippocampus Middle	brain
42	chr3:196255400-196255800	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr3:196255400-196255800	Active TSS	Fetal Lung	lung
44	chr3:196255400-196255800	Flanking Active TSS	Placenta	Placenta
45	chr3:196255400-196255800	Flanking Active TSS	Fetal Thymus	thymus
46	chr3:196255400-196255800	Active TSS	Gastric	stomach
47	chr3:196255400-196255800	Active TSS	Ovary	ovary
48	chr3:196255400-196255800	Flanking Active TSS	HMEC	breast
49	chr3:196255400-196256000	Active TSS	H9 Cell Line	embryonic stem cell
50	chr3:196255400-196256000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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