Variant report

Variant	rs16903703
Chromosome Location	chr5:37723380-37723381
allele	G/T
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	MAX	chr5:37722797-37723416	SK-N-SH	brain:	n/a	n/a
2	JUND	chr5:37722772-37723554	SK-N-SH	brain:	n/a	chr5:37723207-37723218
3	CTCF	chr5:37723340-37723490	HPAF	blood vessel:	n/a	n/a
4	JUND	chr5:37722992-37723390	Hela-S3	cervix:	n/a	chr5:37723207-37723218
5	NFIC	chr5:37722703-37723644	SK-N-SH	brain:	n/a	n/a
6	TEAD4	chr5:37722704-37723532	SK-N-SH	brain:	n/a	n/a
7	WRNIP1	chr5:37723015-37723508	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:37722740-37723421	U87	brain:	n/a	n/a
9	JUND	chr5:37722928-37724070	SK-N-SH	brain:	n/a	chr5:37723207-37723218 chr5:37723718-37723729
10	POU2F2	chr5:37722920-37723390	GM12891	blood:	n/a	n/a
11	RUNX3	chr5:37722649-37723494	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:37722630-37723595	U87	brain:	n/a	n/a
13	PBX3	chr5:37722742-37723491	SK-N-SH	brain:	n/a	n/a
14	FOSL2	chr5:37722894-37723403	A549	lung:	n/a	n/a
15	FOXM1	chr5:37722777-37723456	SK-N-SH	brain:	n/a	n/a
16	BATF	chr5:37722967-37723392	GM12878	blood:	n/a	chr5:37723209-37723220
17	TCF12	chr5:37722628-37723988	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr5:37722648-37723852	SK-N-SH	brain:	n/a	n/a
19	EP300	chr5:37722710-37723564	SK-N-SH	brain:	n/a	n/a
20	RAD21	chr5:37722904-37723432	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr5:37723280-37723430	BJ	skin:	n/a	n/a
22	POLR2A	chr5:37722837-37723444	SK-N-SH	brain:	n/a	n/a
23	CREB1	chr5:37722813-37723435	GM12878	blood:	n/a	n/a
24	FOS	chr5:37723031-37723386	MCF10A-Er-Src	breast:	n/a	chr5:37723207-37723218
25	CEBPB	chr5:37722910-37723425	HCT-116	colon:	n/a	n/a
26	FOSL1	chr5:37722925-37723475	HCT-116	colon:	n/a	n/a
27	CTCF	chr5:37723340-37723490	SAEC	small airway:	n/a	n/a
28	PBX3	chr5:37722706-37723498	SK-N-SH	brain:	n/a	n/a
29	EP300	chr5:37722691-37723626	SK-N-SH	brain:	n/a	n/a
30	CTCF	chr5:37723240-37723390	AG04449	skin:	n/a	n/a
31	CTCF	chr5:37723260-37723410	NHDF-neo	bronchial:	n/a	n/a
32	TCF12	chr5:37722635-37723669	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr5:37723145-37724097	SK-N-SH	brain:	n/a	n/a
34	JUND	chr5:37722697-37723558	SK-N-SH	brain:	n/a	chr5:37723207-37723218
35	FOSL1	chr5:37722923-37723417	HCT-116	colon:	n/a	n/a
36	FOS	chr5:37722941-37723679	HUVEC	blood vessel:	n/a	chr5:37723207-37723218
37	FOSL2	chr5:37722752-37723437	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr5:37722765-37723421	U87	brain:	n/a	n/a
39	RUNX3	chr5:37722790-37723382	GM12878	blood:	n/a	n/a
40	ATF3	chr5:37722947-37723383	K562	blood:	n/a	n/a
41	MTA3	chr5:37722877-37723390	GM12878	blood:	n/a	n/a
42	ATF2	chr5:37722812-37723380	GM12878	blood:	n/a	n/a
43	POLR2A	chr5:37722630-37723560	U87	brain:	n/a	n/a
44	JUND	chr5:37722966-37723392	HCT-116	colon:	n/a	chr5:37723207-37723218
45	NFIC	chr5:37722724-37723492	GM12878	blood:	n/a	n/a
46	JUND	chr5:37722974-37723410	HCT-116	colon:	n/a	chr5:37723207-37723218
47	TEAD4	chr5:37722709-37723566	SK-N-SH	brain:	n/a	n/a
48	FOS	chr5:37722918-37723783	MCF10A-Er-Src	breast:	n/a	chr5:37723207-37723218
49	EP300	chr5:37722824-37723414	SK-N-SH_RA	brain:	n/a	n/a
50	KAP1	chr5:37722910-37724031	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37723298..37724139-chr5:38192927..38193812,2	K562	blood:

Variant related genes	Relation type
WDR70	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10038414	1.00[EUR][1000 genomes]
rs10039768	1.00[EUR][1000 genomes]
rs10042970	1.00[EUR][1000 genomes]
rs10043213	0.87[ASW][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10050392	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10050932	1.00[EUR][1000 genomes]
rs10051811	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10053094	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10055123	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10055301	1.00[EUR][1000 genomes]
rs10055334	1.00[EUR][1000 genomes]
rs10055747	1.00[EUR][1000 genomes]
rs10058062	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10059214	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10060693	1.00[EUR][1000 genomes]
rs10063001	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10067239	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10067869	1.00[EUR][1000 genomes]
rs10071967	1.00[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10074536	1.00[EUR][1000 genomes]
rs10075851	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10076872	1.00[EUR][1000 genomes]
rs10078503	1.00[EUR][1000 genomes]
rs10473065	0.86[YRI][hapmap];0.90[AMR][1000 genomes]
rs1104717	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1104718	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12332422	1.00[EUR][1000 genomes]
rs12332493	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1400855	1.00[EUR][1000 genomes]
rs16903667	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16903675	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16903689	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16903704	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903706	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903711	1.00[CEU][hapmap]
rs1829294	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1973713	1.00[EUR][1000 genomes]
rs28876205	1.00[EUR][1000 genomes]
rs475517	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs481834	1.00[EUR][1000 genomes]
rs488315	1.00[EUR][1000 genomes]
rs489123	1.00[EUR][1000 genomes]
rs563999	1.00[EUR][1000 genomes]
rs587641	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs59176360	1.00[EUR][1000 genomes]
rs596461	1.00[EUR][1000 genomes]
rs61748201	1.00[EUR][1000 genomes]
rs626649	1.00[EUR][1000 genomes]
rs6451332	1.00[EUR][1000 genomes]
rs6451341	0.84[LWK][hapmap]
rs671077	1.00[EUR][1000 genomes]
rs6859972	1.00[EUR][1000 genomes]
rs6861640	1.00[CEU][hapmap]
rs6863124	1.00[EUR][1000 genomes]
rs6863547	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs6888597	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6898225	1.00[EUR][1000 genomes]
rs6898271	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7708301	1.00[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7708708	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs7710547	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs7714066	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7719190	1.00[EUR][1000 genomes]
rs7723389	1.00[EUR][1000 genomes]
rs7725297	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7727291	1.00[EUR][1000 genomes]
rs7727603	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7729195	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs7732315	1.00[EUR][1000 genomes]
rs7734593	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7736605	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs7736862	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7737210	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7737986	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9292658	1.00[EUR][1000 genomes]
rs9292659	1.00[EUR][1000 genomes]
rs9292660	1.00[EUR][1000 genomes]
rs9292661	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9292663	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs951579	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37685200-37743200	Weak transcription	Gastric	stomach
2	chr5:37685600-37727000	Weak transcription	Lung	lung
3	chr5:37688400-37723600	Weak transcription	Placenta	Placenta
4	chr5:37689600-37726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:37697000-37743800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:37702800-37723400	Weak transcription	Thymus	Thymus
7	chr5:37704400-37735400	Weak transcription	Brain Angular Gyrus	brain
8	chr5:37704600-37726800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:37705400-37724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:37710200-37735400	Weak transcription	Brain Substantia Nigra	brain
11	chr5:37714400-37725600	Enhancers	NHDF-Ad	bronchial
12	chr5:37715000-37724600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:37716400-37734800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:37717600-37737600	Weak transcription	Small Intestine	intestine
15	chr5:37717800-37724400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:37717800-37735200	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:37717800-37735200	Weak transcription	Fetal Brain Male	brain
18	chr5:37717800-37735400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:37717800-37735600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:37717800-37756200	Weak transcription	Right Ventricle	heart
21	chr5:37718200-37727000	Weak transcription	Fetal Brain Female	brain
22	chr5:37718200-37727000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:37718200-37727400	Weak transcription	Brain Germinal Matrix	brain
24	chr5:37718400-37735400	Weak transcription	Brain Anterior Caudate	brain
25	chr5:37718400-37735400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:37718400-37743200	Weak transcription	Aorta	Aorta
27	chr5:37718400-37745400	Weak transcription	Pancreas	Pancrea
28	chr5:37718400-37755800	Weak transcription	Spleen	Spleen
29	chr5:37718600-37723400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:37718600-37726800	Weak transcription	Liver	Liver
31	chr5:37718800-37725800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:37718800-37735600	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:37718800-37735600	Weak transcription	Fetal Heart	heart
34	chr5:37719000-37727000	Weak transcription	Fetal Lung	lung
35	chr5:37719200-37727000	Weak transcription	Fetal Intestine Large	intestine
36	chr5:37719200-37727000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:37719400-37724600	Weak transcription	HepG2	liver
38	chr5:37719400-37743000	Weak transcription	Fetal Intestine Small	intestine
39	chr5:37720000-37726000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:37720400-37723600	Enhancers	Fetal Stomach	stomach
41	chr5:37720400-37725600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:37720600-37723800	Strong transcription	Adipose Nuclei	Adipose
43	chr5:37720600-37725600	Enhancers	NHLF	lung
44	chr5:37720800-37723400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:37720800-37723800	Enhancers	HSMMtube	muscle
46	chr5:37720800-37730000	Strong transcription	Primary T cells from cord blood	blood
47	chr5:37721200-37723400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:37721200-37723800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr5:37721200-37728400	Strong transcription	Left Ventricle	heart
50	chr5:37721200-37730200	Strong transcription	Primary B cells from peripheral blood	blood

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