Variant report

Variant	rs975261
Chromosome Location	chr11:72664488-72664489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72664177..72665992-chr11:72667609..72669662,2	K562	blood:
2	chr11:72642359..72644585-chr11:72662494..72664932,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1025411	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10732893	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10736788	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10736789	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10736791	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10751219	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10898888	1.00[EUR][1000 genomes]
rs10898892	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235608	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11824394	1.00[EUR][1000 genomes]
rs12099370	1.00[EUR][1000 genomes]
rs1380574	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1380575	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2060072	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2365906	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3903492	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4373969	1.00[EUR][1000 genomes]
rs4594026	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4944015	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4944019	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944814	0.89[ASW][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944817	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs55787543	1.00[EUR][1000 genomes]
rs55838097	1.00[EUR][1000 genomes]
rs55888199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56133665	1.00[EUR][1000 genomes]
rs56154220	1.00[EUR][1000 genomes]
rs56283764	1.00[EUR][1000 genomes]
rs56316448	1.00[EUR][1000 genomes]
rs57731198	1.00[EUR][1000 genomes]
rs58192366	1.00[EUR][1000 genomes]
rs59925945	1.00[EUR][1000 genomes]
rs60219481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60812177	1.00[EUR][1000 genomes]
rs60877622	1.00[EUR][1000 genomes]
rs6592494	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592495	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs6592502	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102424	1.00[EUR][1000 genomes]
rs7107817	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7115321	1.00[EUR][1000 genomes]
rs7117786	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7118144	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122566	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7130559	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72984941	0.83[EUR][1000 genomes]
rs72984946	1.00[EUR][1000 genomes]
rs72984947	1.00[EUR][1000 genomes]
rs72984948	1.00[EUR][1000 genomes]
rs7395081	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7930535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7946019	1.00[EUR][1000 genomes]
rs7951614	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs898384	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs994305	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

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	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2422418	chr11:72646518-72807865	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv555411	chr11:72647296-72800970	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72633000-72680000	Weak transcription	Dnd41	blood
2	chr11:72633000-72684000	Weak transcription	Primary T cells from cord blood	blood
3	chr11:72633200-72668400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:72633400-72679400	Weak transcription	Fetal Thymus	thymus
5	chr11:72636200-72694800	Weak transcription	Adipose Nuclei	Adipose
6	chr11:72636400-72680200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr11:72636400-72712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:72637000-72721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:72637400-72666000	Weak transcription	Ovary	ovary
10	chr11:72637400-72666400	Weak transcription	Right Ventricle	heart
11	chr11:72641800-72680200	Weak transcription	HSMMtube	muscle
12	chr11:72643600-72676400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:72643800-72668400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:72643800-72673000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:72647200-72670800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:72647200-72680800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:72649000-72721600	Weak transcription	Thymus	Thymus
18	chr11:72649600-72681600	Weak transcription	Aorta	Aorta
19	chr11:72649800-72679400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:72650400-72666600	Weak transcription	HepG2	liver
21	chr11:72651400-72666400	Weak transcription	HUVEC	blood vessel
22	chr11:72651400-72696600	Weak transcription	Brain Anterior Caudate	brain
23	chr11:72651600-72680400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:72651600-72680600	Weak transcription	Fetal Stomach	stomach
25	chr11:72651800-72674600	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:72651800-72680800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:72652000-72666000	Weak transcription	Brain Substantia Nigra	brain
28	chr11:72652200-72666000	Weak transcription	Left Ventricle	heart
29	chr11:72653400-72681800	Weak transcription	Pancreas	Pancrea
30	chr11:72654000-72671200	Weak transcription	HSMM	muscle
31	chr11:72658200-72666800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:72658400-72671400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:72658600-72668600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:72661800-72668000	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr11:72662000-72665600	Enhancers	Fetal Heart	heart
36	chr11:72662200-72680800	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:72662400-72665200	Enhancers	Fetal Intestine Large	intestine
38	chr11:72662400-72668000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr11:72662600-72666000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:72662600-72670600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:72662600-72674600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:72662600-72680800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:72662800-72671400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:72663000-72669000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:72663000-72675000	Weak transcription	Liver	Liver
46	chr11:72663200-72673000	Weak transcription	Osteobl	bone
47	chr11:72663200-72682600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:72663200-72683600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:72663400-72679400	Weak transcription	NHDF-Ad	bronchial
50	chr11:72663600-72666000	Weak transcription	Lung	lung

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