Variant report

Variant	rs10095737
Chromosome Location	chr8:10641152-10641153
allele	A/G
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	ATF2	chr8:10641139-10641593	GM12878	blood:	n/a	n/a
2	NFATC1	chr8:10641152-10641685	GM12878	blood:	n/a	n/a
3	FOXM1	chr8:10641102-10641640	GM12878	blood:	n/a	n/a
4	FOS	chr8:10640932-10641678	HUVEC	blood vessel:	n/a	chr8:10641273-10641282 chr8:10641365-10641376
5	GATA3	chr8:10640891-10641393	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr8:10640853-10641209	SH-SY5Y	brain:	n/a	n/a
7	FOS	chr8:10641110-10641690	MCF10A-Er-Src	breast:	n/a	chr8:10641273-10641282 chr8:10641365-10641376
8	IRF4	chr8:10641093-10641555	GM12878	blood:	n/a	n/a
9	KAP1	chr8:10640927-10641432	HEK293	kidney:	n/a	n/a
10	RUNX3	chr8:10641099-10641709	GM12878	blood:	n/a	n/a
11	IKZF1	chr8:10641089-10641622	GM12878	blood:	n/a	n/a
12	PBX3	chr8:10640967-10641699	SK-N-SH	brain:	n/a	n/a
13	NFIC	chr8:10640919-10641951	GM12878	blood:	n/a	n/a
14	GATA2	chr8:10640864-10641238	SH-SY5Y	brain:	n/a	n/a
15	CUX1	chr8:10641093-10641507	K562	blood:	n/a	n/a
16	GATA3	chr8:10640747-10641504	SK-N-SH	brain:	n/a	n/a
17	GATA2	chr8:10640840-10641447	HUVEC	blood vessel:	n/a	n/a
18	E2F4	chr8:10641084-10641368	MCF10A-Er-Src	breast:	n/a	n/a
19	ATF2	chr8:10641097-10641653	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000252565	TF binding region

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10089615	0.86[ASN][1000 genomes]
rs10091836	0.98[ASN][1000 genomes]
rs10092781	0.99[ASN][1000 genomes]
rs10094907	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10097531	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10099021	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099137	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10099907	0.93[ASN][1000 genomes]
rs10100265	0.84[ASN][1000 genomes]
rs10107180	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10107289	0.87[ASN][1000 genomes]
rs10107303	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109034	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10113332	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10113343	0.98[ASN][1000 genomes]
rs1115866	0.86[ASN][1000 genomes]
rs1115867	0.86[ASN][1000 genomes]
rs11250069	0.93[ASN][1000 genomes]
rs11250070	0.97[ASN][1000 genomes]
rs11250071	0.96[ASN][1000 genomes]
rs11250074	0.86[ASN][1000 genomes]
rs12056936	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12550169	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12550720	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12679010	0.82[ASN][1000 genomes]
rs12679155	0.80[ASN][1000 genomes]
rs12679178	0.80[ASN][1000 genomes]
rs12681175	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12681375	0.80[ASN][1000 genomes]
rs12682565	0.86[ASN][1000 genomes]
rs1430867	0.93[ASN][1000 genomes]
rs17152302	0.92[ASN][1000 genomes]
rs17152305	0.93[ASN][1000 genomes]
rs1821001	0.98[ASN][1000 genomes]
rs1821002	0.86[ASN][1000 genomes]
rs2005309	0.81[ASN][1000 genomes]
rs2005311	0.92[ASN][1000 genomes]
rs2033369	1.00[ASN][1000 genomes]
rs2116092	0.92[ASN][1000 genomes]
rs2116095	0.84[ASN][1000 genomes]
rs2116096	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280047	0.95[ASN][1000 genomes]
rs2409663	0.84[ASN][1000 genomes]
rs2409669	0.82[ASN][1000 genomes]
rs28429578	0.80[ASN][1000 genomes]
rs28570522	0.85[ASN][1000 genomes]
rs28588745	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28592638	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2898248	0.87[ASN][1000 genomes]
rs2898251	0.81[ASN][1000 genomes]
rs4240669	0.85[ASN][1000 genomes]
rs4321967	0.86[ASN][1000 genomes]
rs4841441	0.85[ASN][1000 genomes]
rs6601520	0.95[ASN][1000 genomes]
rs6601521	0.83[ASN][1000 genomes]
rs6601522	0.84[ASN][1000 genomes]
rs6601523	0.84[ASN][1000 genomes]
rs6601524	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601525	0.98[ASN][1000 genomes]
rs6981530	0.94[ASN][1000 genomes]
rs6985218	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6989072	0.95[ASN][1000 genomes]
rs6993841	0.86[ASN][1000 genomes]
rs6994595	0.96[ASN][1000 genomes]
rs7002117	0.80[ASN][1000 genomes]
rs7002137	0.93[ASN][1000 genomes]
rs7010926	0.93[ASN][1000 genomes]
rs7014168	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014285	0.93[ASN][1000 genomes]
rs7015129	0.99[ASN][1000 genomes]
rs714371	0.80[ASN][1000 genomes]
rs733395	0.95[ASN][1000 genomes]
rs733396	0.95[ASN][1000 genomes]
rs73542560	0.92[ASN][1000 genomes]
rs73544343	0.97[ASN][1000 genomes]
rs736668	0.95[ASN][1000 genomes]
rs736669	0.95[ASN][1000 genomes]
rs752446	0.81[ASN][1000 genomes]
rs7813706	0.86[ASN][1000 genomes]
rs7814142	0.86[ASN][1000 genomes]
rs7820819	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7821812	0.87[EUR][1000 genomes]
rs7823088	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7826180	0.96[ASN][1000 genomes]
rs7826189	0.98[ASN][1000 genomes]
rs7826218	0.95[ASN][1000 genomes]
rs7826392	0.95[ASN][1000 genomes]
rs7826458	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7830528	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7834466	0.86[ASN][1000 genomes]
rs7836194	0.87[ASN][1000 genomes]
rs7838341	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs891554	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs891555	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs891556	0.89[ASN][1000 genomes]
rs919555	0.93[ASN][1000 genomes]
rs9644730	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9657541	0.99[AFR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
8	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1024806	chr8:10605438-10662555	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1031709	chr8:10610545-10657726	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2764105	chr8:10610557-10657726	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
14	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1023085	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv539470	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
18	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
19	nsv1026230	chr8:10618928-10652924	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv539472	chr8:10618928-10652924	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10610800-10662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:10618800-10646200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:10618800-10665200	Weak transcription	Fetal Brain Female	brain
4	chr8:10619200-10644800	Weak transcription	Small Intestine	intestine
5	chr8:10619200-10656400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:10619400-10661600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:10620000-10669800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:10620200-10645000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:10621200-10662000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:10621400-10656000	Weak transcription	HepG2	liver
11	chr8:10622800-10656000	Weak transcription	A549	lung
12	chr8:10623200-10650000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:10623400-10646400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:10623400-10656800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:10623400-10662600	Weak transcription	Fetal Thymus	thymus
16	chr8:10623400-10662800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr8:10623400-10665000	Weak transcription	Fetal Intestine Large	intestine
18	chr8:10623600-10643800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:10623600-10644200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:10623600-10648800	Weak transcription	Fetal Intestine Small	intestine
21	chr8:10623600-10667000	Weak transcription	Thymus	Thymus
22	chr8:10623800-10648800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:10623800-10649600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:10623800-10656800	Weak transcription	Gastric	stomach
25	chr8:10624000-10649600	Weak transcription	Pancreas	Pancrea
26	chr8:10624200-10644000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:10624800-10642400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:10624800-10646800	Weak transcription	Brain Germinal Matrix	brain
29	chr8:10630400-10646200	Weak transcription	GM12878-XiMat	blood
30	chr8:10634400-10645800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:10634400-10646400	Weak transcription	Lung	lung
32	chr8:10634400-10646600	Weak transcription	Spleen	Spleen
33	chr8:10634600-10647200	Weak transcription	Fetal Stomach	stomach
34	chr8:10634800-10642000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:10634800-10645800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:10635000-10643200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:10635000-10647000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr8:10635000-10652200	Weak transcription	Liver	Liver
39	chr8:10635200-10642000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:10635400-10642000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:10635400-10664400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:10635600-10643200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:10635600-10643800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:10635600-10644000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:10635600-10645600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr8:10635600-10645800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:10635600-10646200	Weak transcription	Esophagus	oesophagus
48	chr8:10635600-10646600	Weak transcription	Right Ventricle	heart
49	chr8:10635600-10656800	Weak transcription	Ovary	ovary
50	chr8:10635800-10642000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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