Variant report

Variant	rs11970637
Chromosome Location	chr6:128559281-128559282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128552552..128554388-chr6:128558888..128560797,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152894	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10046162	0.82[EUR][1000 genomes]
rs10485160	0.82[YRI][hapmap]
rs10485161	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10485162	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499136	0.82[EUR][1000 genomes]
rs10499137	1.00[CHB][hapmap]
rs10499138	1.00[EUR][1000 genomes]
rs11962214	1.00[CHB][hapmap]
rs11962916	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11968433	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12110357	1.00[CHB][hapmap]
rs1339188	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17053270	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055270	1.00[CHB][hapmap]
rs17055274	1.00[CHB][hapmap]
rs17055290	1.00[EUR][1000 genomes]
rs17055300	1.00[EUR][1000 genomes]
rs17055360	1.00[EUR][1000 genomes]
rs17055365	1.00[EUR][1000 genomes]
rs17055403	1.00[EUR][1000 genomes]
rs17055412	1.00[EUR][1000 genomes]
rs17055415	1.00[EUR][1000 genomes]
rs17055421	1.00[EUR][1000 genomes]
rs17055443	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17055445	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17055461	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055472	0.81[YRI][hapmap]
rs17055477	0.82[YRI][hapmap]
rs17055488	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1738273	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1738283	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1738288	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1738290	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1768358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856497	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28874136	0.82[EUR][1000 genomes]
rs4131020	1.00[EUR][1000 genomes]
rs41439546	1.00[CHB][hapmap]
rs4496822	0.82[EUR][1000 genomes]
rs4895832	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897244	1.00[EUR][1000 genomes]
rs4897245	1.00[EUR][1000 genomes]
rs4897246	1.00[EUR][1000 genomes]
rs4897247	1.00[EUR][1000 genomes]
rs4897248	1.00[EUR][1000 genomes]
rs4897249	1.00[EUR][1000 genomes]
rs4897250	1.00[EUR][1000 genomes]
rs55828045	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56042959	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56932458	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57797601	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58652879	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58706847	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59341107	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60264538	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60436012	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61111040	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6900798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905735	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909380	1.00[EUR][1000 genomes]
rs6910587	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913738	1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6918772	1.00[EUR][1000 genomes]
rs6929394	1.00[EUR][1000 genomes]
rs6929623	1.00[EUR][1000 genomes]
rs6933133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938199	1.00[EUR][1000 genomes]
rs730202	0.81[YRI][hapmap]
rs73588698	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73590666	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73592613	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73592686	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73773990	0.82[EUR][1000 genomes]
rs742736	0.81[YRI][hapmap]
rs7751187	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs7752113	0.82[EUR][1000 genomes]
rs7754637	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768121	1.00[EUR][1000 genomes]
rs7769070	1.00[CHB][hapmap]
rs7772200	1.00[EUR][1000 genomes]
rs7772941	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9321113	0.82[YRI][hapmap]
rs9372886	0.82[YRI][hapmap]
rs9375555	0.81[YRI][hapmap]
rs9375556	0.86[YRI][hapmap]
rs9388627	0.82[YRI][hapmap]
rs9402024	0.82[YRI][hapmap]
rs9402030	0.81[YRI][hapmap]
rs9491909	0.82[EUR][1000 genomes]
rs9784773	0.82[YRI][hapmap]
rs981998	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv886651	chr6:128450019-128565778	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128488200-128565200	Weak transcription	Fetal Stomach	stomach
2	chr6:128492600-128567800	Weak transcription	Ovary	ovary
3	chr6:128506000-128561000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:128520400-128573800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:128522000-128560800	Weak transcription	Primary T cells from cord blood	blood
6	chr6:128527600-128561000	Weak transcription	Esophagus	oesophagus
7	chr6:128528400-128561000	Weak transcription	Fetal Brain Male	brain
8	chr6:128529800-128561000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:128531000-128562400	Weak transcription	Aorta	Aorta
10	chr6:128531200-128562400	Weak transcription	HSMMtube	muscle
11	chr6:128531200-128567800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:128531200-128573800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:128532000-128561000	Weak transcription	Osteobl	bone
14	chr6:128536800-128560600	Weak transcription	Fetal Lung	lung
15	chr6:128537200-128561000	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:128537600-128573800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:128540200-128559600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:128540200-128561000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:128540200-128564800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:128540400-128560400	Weak transcription	Fetal Thymus	thymus
21	chr6:128540400-128560400	Weak transcription	HUVEC	blood vessel
22	chr6:128540400-128569400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:128540600-128561000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:128540800-128562400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:128544200-128562400	Weak transcription	Gastric	stomach
26	chr6:128544200-128563200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:128551400-128561000	Weak transcription	Right Atrium	heart
28	chr6:128551400-128565800	Weak transcription	Psoas Muscle	Psoas
29	chr6:128551400-128584400	Weak transcription	Pancreas	Pancrea
30	chr6:128552600-128560400	Weak transcription	Fetal Intestine Large	intestine
31	chr6:128552600-128562400	Weak transcription	Fetal Intestine Small	intestine
32	chr6:128553200-128573800	Weak transcription	NHLF	lung
33	chr6:128553400-128564400	Weak transcription	Lung	lung
34	chr6:128553800-128561000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:128553800-128570600	Weak transcription	Liver	Liver
36	chr6:128554000-128561000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:128554600-128564200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr6:128555000-128561000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:128555000-128564400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:128555200-128561000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:128555200-128561000	Weak transcription	Right Ventricle	heart
42	chr6:128555200-128584400	Weak transcription	HMEC	breast
43	chr6:128555600-128595800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:128555800-128564800	Weak transcription	Fetal Brain Female	brain
45	chr6:128556000-128560400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:128556600-128564400	Strong transcription	HepG2	liver
47	chr6:128557000-128561000	Weak transcription	Fetal Kidney	kidney
48	chr6:128557000-128561000	Weak transcription	NHDF-Ad	bronchial
49	chr6:128557000-128561000	Weak transcription	NHEK	skin
50	chr6:128557800-128561000	Weak transcription	Thymus	Thymus

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