Variant report

Variant	rs6471903
Chromosome Location	chr8:61740277-61740278
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61739971..61741580-chr8:61744602..61746196,2	K562	blood:
2	chr8:61739971..61742969-chr8:61743968..61746196,2	K562	blood:
3	chr8:61738648..61741057-chr8:61768794..61770353,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10093135	0.82[EUR][1000 genomes]
rs10103011	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10109193	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1038351	0.85[EUR][1000 genomes]
rs1038352	0.84[EUR][1000 genomes]
rs10448027	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10808711	0.82[EUR][1000 genomes]
rs10808712	0.83[CEU][hapmap];0.89[CHB][hapmap]
rs10808713	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs10957154	0.82[EUR][1000 genomes]
rs10957155	0.82[EUR][1000 genomes]
rs10957156	0.94[CEU][hapmap];0.89[CHB][hapmap];0.81[EUR][1000 genomes]
rs10957158	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10957161	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10957162	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11985638	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs11986059	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11986742	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11988338	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11989183	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11990495	0.83[EUR][1000 genomes]
rs11991467	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11992809	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs11993480	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11993896	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11995234	0.83[EUR][1000 genomes]
rs12544305	0.94[CEU][hapmap];0.89[CHB][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs13255519	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs13264014	0.82[EUR][1000 genomes]
rs13277976	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1384688	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1483206	0.82[EUR][1000 genomes]
rs1905305	0.83[EUR][1000 genomes]
rs2035456	0.94[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes]
rs2035457	0.82[EUR][1000 genomes]
rs2054666	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2054667	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2128713	0.94[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs2326598	0.89[EUR][1000 genomes]
rs2875984	0.87[EUR][1000 genomes]
rs4237037	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4237038	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4289855	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4301480	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4307377	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4387010	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4391471	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4392940	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4416857	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4449834	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500113	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4507803	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4526395	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4540437	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4562360	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4581092	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4737563	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4737565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738815	0.94[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs4738818	0.94[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs4738820	0.85[EUR][1000 genomes]
rs4738821	0.89[EUR][1000 genomes]
rs4738822	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4738824	0.91[EUR][1000 genomes]
rs4738827	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4738831	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738832	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471894	0.94[CEU][hapmap];0.89[CHB][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs6471896	0.94[CEU][hapmap];0.89[CHB][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs6471897	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6471898	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6471901	0.91[EUR][1000 genomes]
rs6471902	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471905	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6982898	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6988582	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs6989150	0.80[YRI][hapmap]
rs6994180	0.82[EUR][1000 genomes]
rs6994642	0.81[LWK][hapmap];0.83[YRI][hapmap]
rs6995557	0.82[EUR][1000 genomes]
rs6996597	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6996775	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997208	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6997222	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000766	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs7000957	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7002806	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7005873	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7009754	0.91[EUR][1000 genomes]
rs7011972	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs7012450	0.81[EUR][1000 genomes]
rs7016832	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017676	0.89[EUR][1000 genomes]
rs730085	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs7814114	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7816126	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7816621	0.84[CEU][hapmap];0.89[CHB][hapmap]
rs7823484	0.89[EUR][1000 genomes]
rs7826035	0.94[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs7834977	0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7836586	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs7838426	0.84[EUR][1000 genomes]
rs7840098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7842389	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7842498	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7843033	0.85[EUR][1000 genomes]
rs7844902	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7845701	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs7846065	0.82[EUR][1000 genomes]
rs900502	0.94[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs9298040	0.82[EUR][1000 genomes]
rs9298042	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9643371	0.84[CEU][hapmap];0.89[CHB][hapmap]
rs9650201	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	nsv1019330	chr8:61697104-61744335	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv890946	chr8:61726879-61802076	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61691200-61742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:61695000-61743000	Weak transcription	Placenta	Placenta
3	chr8:61704400-61745000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:61705600-61742400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:61705600-61742600	Weak transcription	Spleen	Spleen
6	chr8:61705600-61743000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:61705600-61743000	Weak transcription	Fetal Stomach	stomach
8	chr8:61705600-61743000	Weak transcription	Lung	lung
9	chr8:61705800-61742400	Weak transcription	Gastric	stomach
10	chr8:61705800-61755000	Weak transcription	Psoas Muscle	Psoas
11	chr8:61711000-61742400	Weak transcription	Pancreas	Pancrea
12	chr8:61711800-61743800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:61718200-61740400	Weak transcription	Brain Angular Gyrus	brain
14	chr8:61718200-61749400	Weak transcription	Fetal Kidney	kidney
15	chr8:61718800-61781000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:61720400-61742400	Weak transcription	NH-A	brain
17	chr8:61720600-61742400	Weak transcription	Fetal Brain Female	brain
18	chr8:61720800-61752600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:61722000-61742800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:61723400-61741400	Weak transcription	NHEK	skin
21	chr8:61726800-61749600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:61728200-61749000	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:61728800-61741000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:61728800-61749400	Weak transcription	Small Intestine	intestine
25	chr8:61729000-61740800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:61729200-61742200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:61729200-61751600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:61729600-61742400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:61729800-61743000	Weak transcription	K562	blood
30	chr8:61730200-61741600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:61730200-61743000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:61730800-61742400	Weak transcription	Colonic Mucosa	Colon
33	chr8:61731800-61751400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:61732000-61740400	Strong transcription	Primary B cells from cord blood	blood
35	chr8:61732000-61752000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:61732400-61740400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:61733000-61743000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:61733200-61750800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:61733600-61740400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:61734000-61741000	Weak transcription	Adipose Nuclei	Adipose
41	chr8:61735200-61742800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:61736400-61740400	Strong transcription	HSMM	muscle
43	chr8:61736400-61746200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:61736400-61746400	Strong transcription	Dnd41	blood
45	chr8:61736400-61752600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:61737200-61741600	Weak transcription	Fetal Thymus	thymus
47	chr8:61737200-61742600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:61737400-61742200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:61737400-61747400	Weak transcription	Fetal Brain Male	brain
50	chr8:61737600-61742400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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