Variant report

Variant	rs7926314
Chromosome Location	chr11:46027176-46027177
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45961429..45964338-chr11:46026133..46027935,2	MCF-7	breast:
2	chr11:46019054..46021565-chr11:46025255..46027912,2	K562	blood:
3	chr11:46021583..46025208-chr11:46025456..46028440,3	K562	blood:
4	chr11:46024538..46028805-chr11:46032055..46036011,4	K562	blood:
5	chr11:45927204..45929356-chr11:46025400..46027265,2	K562	blood:

Variant related genes	Relation type
ENSG00000234776	Chromatin interaction
ENSG00000255498	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10742774	1.00[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10769176	1.00[CEU][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10769179	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838535	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10838541	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11038716	1.00[CEU][hapmap]
rs11038720	0.82[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11038723	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11038739	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs11038742	0.95[CEU][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs11038743	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs11038745	0.99[ASN][1000 genomes]
rs1125290	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1125291	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12277800	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1996573	1.00[CEU][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2860404	0.87[CHD][hapmap];0.87[JPT][hapmap]
rs2945997	0.87[ASN][1000 genomes]
rs2945999	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs2946001	0.91[ASN][1000 genomes]
rs2946003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2946004	0.91[ASN][1000 genomes]
rs2959084	0.87[JPT][hapmap]
rs2959087	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2959090	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2959091	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2959098	0.97[ASN][1000 genomes]
rs2959099	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2959101	0.89[CHD][hapmap]
rs2959102	0.84[ASN][1000 genomes]
rs4073513	0.84[CHD][hapmap];0.87[JPT][hapmap]
rs4144718	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4237659	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4237660	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4756044	1.00[CEU][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs4756045	0.80[AMR][1000 genomes]
rs4756051	0.83[CHB][hapmap];0.87[JPT][hapmap];0.83[YRI][hapmap]
rs4756055	0.87[JPT][hapmap]
rs56852527	0.81[EUR][1000 genomes]
rs6485654	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108028	0.82[ASN][1000 genomes]
rs7108186	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7128184	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7130281	0.97[ASN][1000 genomes]
rs72904370	0.82[EUR][1000 genomes]
rs7935308	0.96[ASN][1000 genomes]
rs7948502	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950336	0.82[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7950391	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884668	0.81[CEU][hapmap]
rs939107	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs950105	0.87[JPT][hapmap]
rs953230	0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523952	chr11:45983385-46028281	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	nsv522527	chr11:46024183-46033104	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv972948	chr11:46025325-46031491	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46001400-46070400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:46002000-46042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:46002000-46056200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:46012800-46031000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:46012800-46062800	Weak transcription	GM12878-XiMat	blood
6	chr11:46016200-46048200	Weak transcription	Esophagus	oesophagus
7	chr11:46016800-46044000	Weak transcription	Primary T cells from cord blood	blood
8	chr11:46017000-46032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:46022000-46033600	Weak transcription	Primary B cells from cord blood	blood
10	chr11:46022000-46074600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:46022600-46028200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:46023000-46028000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:46023000-46029000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr11:46023400-46027600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:46023400-46038200	Weak transcription	A549	lung
16	chr11:46023400-46041800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:46023400-46047800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:46023400-46048200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:46023600-46041600	Weak transcription	Ovary	ovary
20	chr11:46023600-46046400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:46024000-46028000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:46024800-46042600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:46025000-46028200	Enhancers	Fetal Lung	lung
24	chr11:46025400-46028400	Weak transcription	Right Atrium	heart
25	chr11:46025600-46027600	Weak transcription	Fetal Heart	heart
26	chr11:46025600-46029200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr11:46025600-46031000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:46025600-46033600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:46025600-46033600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:46025600-46041800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:46025600-46047400	Weak transcription	HSMMtube	muscle
32	chr11:46025600-46056200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:46025800-46031000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:46026000-46030800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:46026000-46031200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:46026000-46032000	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:46026200-46033400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:46026200-46055600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:46026400-46027800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:46026400-46032400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:46026400-46033800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:46026400-46034000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:46026400-46047800	Weak transcription	HSMM	muscle
44	chr11:46026600-46027800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr11:46026600-46031200	Weak transcription	K562	blood
46	chr11:46026600-46031400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:46026800-46027800	Weak transcription	Fetal Brain Male	brain
48	chr11:46026800-46033600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:46027000-46027400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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