Variant report

Variant	rs6471894
Chromosome Location	chr8:61613404-61613405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61590866..61593326-chr8:61611712..61615687,3	MCF-7	breast:
2	chr8:61612592..61618600-chr8:61619190..61622495,7	MCF-7	breast:
3	chr8:61612691..61616083-chr8:61619050..61621954,3	K562	blood:
4	chr8:61590260..61597729-chr8:61611560..61624694,18	MCF-7	breast:
5	chr8:61599554..61605342-chr8:61607995..61613853,8	K562	blood:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10093135	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10103011	0.89[EUR][1000 genomes]
rs10109193	0.89[EUR][1000 genomes]
rs1038351	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1038352	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10448027	0.89[EUR][1000 genomes]
rs10808711	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10808712	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10808713	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10957154	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957155	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957158	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10957161	0.88[EUR][1000 genomes]
rs11985638	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11986742	0.88[EUR][1000 genomes]
rs11988338	0.88[EUR][1000 genomes]
rs11990117	0.88[ASN][1000 genomes]
rs11990495	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11991467	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11992809	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11993480	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11993490	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11993896	0.88[EUR][1000 genomes]
rs11995234	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11997122	0.88[ASN][1000 genomes]
rs12544305	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12681737	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13255519	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13264014	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13269752	0.82[EUR][1000 genomes]
rs13277976	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1384688	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1483206	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16926407	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1905305	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1964573	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2035456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2035457	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2054666	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2054667	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2128713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2326598	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2875984	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4237037	0.86[EUR][1000 genomes]
rs4237038	0.82[EUR][1000 genomes]
rs4289855	0.89[EUR][1000 genomes]
rs4301480	0.89[EUR][1000 genomes]
rs4307377	0.89[CHB][hapmap];0.81[CHD][hapmap]
rs4391471	0.88[EUR][1000 genomes]
rs4392940	0.90[EUR][1000 genomes]
rs4449834	0.89[CHB][hapmap]
rs4500113	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4526395	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs4540437	0.89[EUR][1000 genomes]
rs4562360	0.89[EUR][1000 genomes]
rs4581092	0.89[EUR][1000 genomes]
rs4737563	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4737565	0.94[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs4738815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4738818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4738820	0.91[EUR][1000 genomes]
rs4738821	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4738822	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4738824	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4738827	0.89[EUR][1000 genomes]
rs4738831	0.89[CHB][hapmap]
rs4738832	0.89[CHB][hapmap]
rs6471896	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471897	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471898	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471901	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6471902	0.86[EUR][1000 genomes]
rs6471903	0.94[CEU][hapmap];0.89[CHB][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs6471905	0.89[CHB][hapmap]
rs6982898	0.89[EUR][1000 genomes]
rs6988582	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6994180	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6995557	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6996597	0.85[EUR][1000 genomes]
rs6996775	0.81[EUR][1000 genomes]
rs6997208	0.85[EUR][1000 genomes]
rs6997222	0.80[EUR][1000 genomes]
rs7000766	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7000957	0.89[EUR][1000 genomes]
rs7002806	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7005873	0.89[CHB][hapmap];0.81[CHD][hapmap]
rs7009754	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7011972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7012450	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7017676	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs730085	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]
rs7814114	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7816126	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7816621	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7823484	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7826035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7834076	0.86[EUR][1000 genomes]
rs7834977	0.86[CHB][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7836586	0.94[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7838426	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7840098	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7842389	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7842498	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7843033	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7845701	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7846065	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs900502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9298040	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9298042	0.87[EUR][1000 genomes]
rs9643371	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9650201	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1027929	chr8:61569620-61617812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1017564	chr8:61577791-61617812	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	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
8	nsv1019809	chr8:61597918-61624034	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv539631	chr8:61597918-61624034	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61594200-61617600	Weak transcription	Hela-S3	cervix
2	chr8:61597000-61619800	Weak transcription	HMEC	breast
3	chr8:61598200-61619800	Weak transcription	HepG2	liver
4	chr8:61603400-61616200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr8:61603400-61620600	Weak transcription	Fetal Intestine Large	intestine
6	chr8:61603400-61626200	Weak transcription	Fetal Thymus	thymus
7	chr8:61604400-61614200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:61605800-61615400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:61606400-61620400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:61607200-61619800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:61607400-61615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:61607400-61619800	Weak transcription	Fetal Lung	lung
13	chr8:61607400-61627000	Weak transcription	Spleen	Spleen
14	chr8:61607600-61614000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:61607600-61614200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:61607600-61615000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:61607600-61615800	Weak transcription	Small Intestine	intestine
18	chr8:61607600-61616200	Weak transcription	Right Atrium	heart
19	chr8:61607600-61620400	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:61607800-61615000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:61608200-61615000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:61608600-61615800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:61609200-61614600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:61609200-61619800	Weak transcription	HSMM	muscle
25	chr8:61609200-61620400	Weak transcription	NH-A	brain
26	chr8:61610400-61615400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:61610600-61614600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:61610600-61620000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:61610800-61615600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:61611200-61613600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr8:61611400-61613600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:61611600-61613600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:61612000-61614200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr8:61612400-61617400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:61612600-61614800	Enhancers	Brain Germinal Matrix	brain
36	chr8:61612600-61616200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:61612600-61616400	Enhancers	Fetal Heart	heart
38	chr8:61612600-61622000	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:61612800-61613600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:61612800-61616200	Enhancers	Primary B cells from cord blood	blood
41	chr8:61613000-61613600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:61613000-61613600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:61613000-61613600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:61613000-61613600	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr8:61613000-61613600	Enhancers	Pancreas	Pancrea
46	chr8:61613000-61613600	Enhancers	Right Ventricle	heart
47	chr8:61613000-61613600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr8:61613000-61613600	Enhancers	Stomach Mucosa	stomach
49	chr8:61613000-61613600	Genic enhancers	GM12878-XiMat	blood
50	chr8:61613000-61613800	Enhancers	Brain Inferior Temporal Lobe	brain

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