Variant report

Variant	rs11991467
Chromosome Location	chr8:61679374-61679375
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61676134..61677689-chr8:61677907..61680647,2	MCF-7	breast:
2	chr8:61590330..61593541-chr8:61678134..61679718,3	MCF-7	breast:
3	chr8:61678725..61681401-chr8:61683493..61686141,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10093135	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10103011	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109193	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1038351	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1038352	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10448027	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10808711	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10808712	0.86[ASN][1000 genomes]
rs10808713	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957154	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10957155	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10957156	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957158	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957161	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957162	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11985638	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986059	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11986742	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11988338	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11989183	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11990495	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11992809	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993480	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11993490	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11993896	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11995234	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12544305	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12681737	0.86[ASN][1000 genomes]
rs13255519	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13264014	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13277976	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384688	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483206	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16926407	0.81[ASN][1000 genomes]
rs1905305	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1964573	0.82[EUR][1000 genomes]
rs2035456	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2035457	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2054666	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054667	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128713	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2326598	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28653462	0.91[ASN][1000 genomes]
rs2875984	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4237037	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4237038	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4289855	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4301480	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4307377	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4387010	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4391471	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4392940	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4416857	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4500113	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4507803	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4526395	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4540437	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4562360	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4581092	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737563	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737565	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4738815	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4738818	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4738820	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4738821	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738822	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738824	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738827	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738832	0.83[EUR][1000 genomes]
rs6471894	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6471896	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471897	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471898	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471901	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471902	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6471903	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6471905	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6982898	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6988582	0.93[EUR][1000 genomes]
rs6994180	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6995557	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6996597	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6996775	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6997208	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6997222	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7000766	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7000957	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7002806	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005873	0.82[EUR][1000 genomes]
rs7009754	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011972	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7012450	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016832	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7017676	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs730085	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7814114	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7816126	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7816621	0.81[ASN][1000 genomes]
rs7823484	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826035	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7834076	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7834977	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7836586	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7838426	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7840098	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7842389	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842498	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843033	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844902	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7845701	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7846065	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs900502	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9298040	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9298042	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9643371	0.81[ASN][1000 genomes]
rs9650201	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv1797364	chr8:61658362-61696231	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61657000-61690400	Weak transcription	HepG2	liver
2	chr8:61658400-61683200	Weak transcription	Fetal Intestine Large	intestine
3	chr8:61664600-61679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:61665000-61681000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:61672000-61681000	Weak transcription	NHEK	skin
6	chr8:61672000-61694400	Weak transcription	A549	lung
7	chr8:61672200-61693400	Weak transcription	Hela-S3	cervix
8	chr8:61672200-61694000	Weak transcription	HUVEC	blood vessel
9	chr8:61672400-61679600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:61672600-61679600	Weak transcription	HSMMtube	muscle
11	chr8:61672600-61681000	Weak transcription	Fetal Brain Female	brain
12	chr8:61672600-61685400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:61672800-61680000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:61675000-61679400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:61675000-61679600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:61675000-61679600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:61675000-61679800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:61675000-61682400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:61675000-61683200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:61675000-61687000	Weak transcription	Fetal Stomach	stomach
21	chr8:61675400-61679400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:61675400-61679600	Weak transcription	Fetal Lung	lung
23	chr8:61675600-61679800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:61676200-61679800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:61676400-61679600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:61676400-61679800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:61676400-61679800	Weak transcription	K562	blood
28	chr8:61676400-61687000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:61677000-61691800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:61677200-61683200	Enhancers	Fetal Heart	heart
31	chr8:61677400-61680600	Enhancers	Left Ventricle	heart
32	chr8:61677400-61682000	Enhancers	GM12878-XiMat	blood
33	chr8:61677600-61679600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:61677600-61679600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:61677600-61679600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:61677600-61679600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:61677600-61680600	Enhancers	Psoas Muscle	Psoas
38	chr8:61677800-61679600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:61677800-61679600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:61678000-61679600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:61678000-61687600	Enhancers	Primary B cells from peripheral blood	blood
42	chr8:61678200-61679400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:61678200-61679800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:61678200-61681200	Enhancers	Spleen	Spleen
45	chr8:61678200-61681400	Enhancers	Dnd41	blood
46	chr8:61678200-61683600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:61678400-61687400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr8:61678400-61687600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr8:61678600-61679800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr8:61678600-61680600	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links