Variant report

Variant	rs7011972
Chromosome Location	chr8:61626532-61626533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61625249..61627166-chr8:61648012..61650874,2	MCF-7	breast:
2	chr8:61625213..61627892-chr8:61636447..61639072,2	K562	blood:
3	chr8:61429938..61430523-chr8:61626386..61627209,2	MCF-7	breast:
4	chr8:61619832..61624344-chr8:61624507..61628732,6	MCF-7	breast:
5	chr8:61590503..61594203-chr8:61625080..61629360,7	MCF-7	breast:
6	chr20:49126608..49127384-chr8:61626322..61626995,2	Hela-S3	cervix:
7	chr8:61591174..61593947-chr8:61626496..61632032,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction
ENSG00000196396	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10093135	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103011	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10109193	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1038351	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1038352	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10448027	0.89[EUR][1000 genomes]
rs10808711	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808712	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10808713	0.91[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957154	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957155	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957158	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957161	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11985638	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11986742	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11988338	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11990117	0.86[ASN][1000 genomes]
rs11990495	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11991467	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11992809	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11993480	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11993490	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11993896	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11995234	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997122	0.86[ASN][1000 genomes]
rs12544305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12681737	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13255519	0.92[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13264014	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13269752	0.82[EUR][1000 genomes]
rs13277976	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1384688	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1483206	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16926407	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1905305	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1964573	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2035456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2035457	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2054666	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2054667	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2128713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2326598	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28653462	0.87[ASN][1000 genomes]
rs2875984	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4237037	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4237038	0.82[EUR][1000 genomes]
rs4289855	0.89[EUR][1000 genomes]
rs4301480	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4307377	0.89[CHB][hapmap];0.81[CHD][hapmap];0.86[MEX][hapmap]
rs4391471	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4392940	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4449834	0.89[CHB][hapmap]
rs4500113	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4526395	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs4540437	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4562360	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4581092	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4737563	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[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];0.92[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4738818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738820	0.91[EUR][1000 genomes]
rs4738821	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4738822	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4738824	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4738827	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4738831	0.89[CHB][hapmap]
rs4738832	0.89[CHB][hapmap]
rs6471894	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]
rs6471896	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];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471897	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471898	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471901	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471902	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471903	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs6471905	0.89[CHB][hapmap]
rs6982898	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6988582	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6994180	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6995557	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[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[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];0.93[ASN][1000 genomes]
rs7000957	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7002806	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7005873	0.89[CHB][hapmap];0.81[CHD][hapmap]
rs7009754	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7012450	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017676	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs730085	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]
rs7814114	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7816126	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7816621	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7823484	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7826035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834076	0.86[EUR][1000 genomes]
rs7834977	0.86[CHB][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7836586	0.92[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7838426	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7840098	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7842389	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7842498	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7843033	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7845701	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7846065	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs900502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9298040	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9298042	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9643371	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9650201	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
6	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
7	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
8	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61607400-61627000	Weak transcription	Spleen	Spleen
2	chr8:61615600-61644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:61621200-61646400	Weak transcription	Fetal Brain Male	brain
4	chr8:61621400-61627200	Weak transcription	Stomach Mucosa	stomach
5	chr8:61621400-61632200	Weak transcription	HepG2	liver
6	chr8:61621600-61626600	Weak transcription	Lung	lung
7	chr8:61621600-61626600	Weak transcription	Pancreas	Pancrea
8	chr8:61621600-61627200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:61621600-61628000	Weak transcription	K562	blood
10	chr8:61621600-61628200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:61621600-61628400	Weak transcription	Brain Angular Gyrus	brain
12	chr8:61621600-61634200	Weak transcription	Primary T cells from cord blood	blood
13	chr8:61621600-61636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:61621800-61628000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:61621800-61628400	Weak transcription	HSMMtube	muscle
16	chr8:61621800-61638200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:61622000-61627000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:61622000-61627200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:61622000-61628200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:61622000-61628800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:61622200-61631400	Weak transcription	Primary B cells from cord blood	blood
22	chr8:61623000-61627000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:61623200-61627400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:61623200-61628400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:61623200-61635800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:61623400-61626600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:61623400-61626800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:61623400-61627000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:61623400-61627000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:61623400-61627000	Weak transcription	Gastric	stomach
31	chr8:61623400-61627400	Weak transcription	Psoas Muscle	Psoas
32	chr8:61623400-61628000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:61623400-61628400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:61623400-61632400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:61623400-61633000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:61623800-61627200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:61623800-61627400	Weak transcription	Brain Substantia Nigra	brain
38	chr8:61623800-61628200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:61624000-61628400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:61624200-61628400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:61626000-61626600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:61626000-61626600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:61626000-61626600	Enhancers	Fetal Heart	heart
44	chr8:61626000-61627600	Active TSS	Colon Smooth Muscle	Colon
45	chr8:61626000-61627600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr8:61626200-61626600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr8:61626200-61626600	Enhancers	Esophagus	oesophagus
48	chr8:61626200-61626600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr8:61626200-61626600	Enhancers	Fetal Thymus	thymus
50	chr8:61626200-61626600	Enhancers	Left Ventricle	heart

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