Variant report

Variant	rs730085
Chromosome Location	chr8:61651614-61651615
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	EP300	chr8:61650798-61651671	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:61646233..61649362-chr8:61650520..61653582,3	K562	blood:
2	chr8:61650732..61652286-chr8:61655462..61657046,2	K562	blood:
3	chr8:61651342..61653464-chr8:61667353..61670158,2	K562	blood:

Variant related genes	Relation type
CHD7	TF binding region
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10093135	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10103011	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10109193	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1038351	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1038352	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10448027	0.88[EUR][1000 genomes]
rs10808711	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10808712	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10808713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957154	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10957155	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10957156	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957158	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957161	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11985638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11986742	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11988338	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11990495	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11991467	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11992809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11993480	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11993490	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11993896	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11995234	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12544305	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12681737	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13255519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13264014	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13269752	0.86[EUR][1000 genomes]
rs13277976	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1384688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1483206	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16926407	0.81[ASN][1000 genomes]
rs1905305	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1964573	0.84[EUR][1000 genomes]
rs2035456	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2035457	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2054666	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2054667	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2128713	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2326598	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28653462	0.91[ASN][1000 genomes]
rs2875984	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4237037	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4237038	0.81[EUR][1000 genomes]
rs4289855	0.88[EUR][1000 genomes]
rs4301480	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4307377	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[MEX][hapmap]
rs4391471	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4392940	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4449834	1.00[CHB][hapmap]
rs4500113	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4526395	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs4540437	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4562360	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4581092	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737565	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs4738815	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4738818	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4738820	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4738821	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738822	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738824	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738827	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4738831	1.00[CHB][hapmap]
rs4738832	1.00[CHB][hapmap]
rs6471894	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6471896	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471897	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471901	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6471902	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471903	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs6471905	1.00[CHB][hapmap]
rs6982898	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6988582	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6994180	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6995557	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6996597	0.84[EUR][1000 genomes]
rs6996775	0.80[EUR][1000 genomes]
rs6997208	0.84[EUR][1000 genomes]
rs7000766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7000957	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7002806	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7005873	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs7009754	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7011972	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7012450	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7017676	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7814114	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7816126	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7816621	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.81[ASN][1000 genomes]
rs7823484	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7826035	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7834076	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7834977	0.86[CHB][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7836586	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7838426	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7840098	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7842389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7842498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7843033	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7845701	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7846065	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs900502	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9298040	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9298042	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643371	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9650201	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61635000-61654200	Weak transcription	Fetal Intestine Small	intestine
2	chr8:61637000-61654600	Weak transcription	Hela-S3	cervix
3	chr8:61638600-61654000	Weak transcription	NHEK	skin
4	chr8:61638600-61664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:61644200-61659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:61644800-61659400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:61645000-61651800	Weak transcription	Fetal Brain Female	brain
8	chr8:61645000-61654200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:61645000-61654200	Weak transcription	Colonic Mucosa	Colon
10	chr8:61645200-61654200	Weak transcription	Fetal Intestine Large	intestine
11	chr8:61645400-61655000	Weak transcription	A549	lung
12	chr8:61646200-61652200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:61646200-61656400	Weak transcription	Liver	Liver
14	chr8:61646400-61654400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:61647000-61653600	Weak transcription	Fetal Brain Male	brain
16	chr8:61647400-61655200	Weak transcription	HepG2	liver
17	chr8:61648400-61652000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:61648600-61653800	Weak transcription	Primary B cells from cord blood	blood
19	chr8:61648600-61654200	Weak transcription	Primary T cells from cord blood	blood
20	chr8:61648800-61652800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:61648800-61654000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:61648800-61654200	Weak transcription	Fetal Thymus	thymus
23	chr8:61648800-61656600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:61648800-61663800	Weak transcription	HUVEC	blood vessel
25	chr8:61649000-61654200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:61649000-61654800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:61649000-61663800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:61649200-61652200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:61649200-61652400	Weak transcription	Brain Angular Gyrus	brain
30	chr8:61649200-61653400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:61649200-61653600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:61649200-61654200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:61649200-61654200	Weak transcription	Fetal Stomach	stomach
34	chr8:61649200-61654200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:61649200-61654200	Weak transcription	Spleen	Spleen
36	chr8:61649200-61654400	Weak transcription	Gastric	stomach
37	chr8:61649200-61654600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:61649200-61660800	Weak transcription	Small Intestine	intestine
39	chr8:61649400-61652400	Weak transcription	Brain Anterior Caudate	brain
40	chr8:61649400-61653200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:61649400-61654000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:61649400-61654000	Weak transcription	GM12878-XiMat	blood
43	chr8:61649400-61654200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:61649400-61654200	Weak transcription	Adipose Nuclei	Adipose
45	chr8:61649400-61654200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr8:61649400-61654400	Weak transcription	K562	blood
47	chr8:61650600-61654200	Enhancers	HSMM	muscle
48	chr8:61650800-61653800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:61650800-61654000	Enhancers	Fetal Heart	heart
50	chr8:61651000-61652200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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