Variant report

Variant	rs6592502
Chromosome Location	chr11:72657722-72657723
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	chr11:72656692..72659445-chr11:72660931..72662895,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1025411	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10732893	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]
rs10736788	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10736789	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10736791	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]
rs10751219	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10898888	1.00[EUR][1000 genomes]
rs10898892	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235608	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11824394	1.00[EUR][1000 genomes]
rs12099370	1.00[EUR][1000 genomes]
rs1380574	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];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]
rs1835644	0.89[AFR][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	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]
rs4944814	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][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]
rs555773	0.90[AFR][1000 genomes]
rs55787543	1.00[EUR][1000 genomes]
rs55838097	1.00[EUR][1000 genomes]
rs55888199	0.80[AFR][1000 genomes];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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60812177	1.00[EUR][1000 genomes]
rs60877622	1.00[EUR][1000 genomes]
rs6592494	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][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]
rs7102424	1.00[EUR][1000 genomes]
rs7107817	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7115321	1.00[EUR][1000 genomes]
rs7117786	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7118144	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.83[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];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];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[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7930535	0.81[AFR][1000 genomes];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];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs975261	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]
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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72630800-72662400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:72633000-72680000	Weak transcription	Dnd41	blood
3	chr11:72633000-72684000	Weak transcription	Primary T cells from cord blood	blood
4	chr11:72633200-72668400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:72633400-72679400	Weak transcription	Fetal Thymus	thymus
6	chr11:72636200-72694800	Weak transcription	Adipose Nuclei	Adipose
7	chr11:72636400-72680200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:72636400-72712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:72637000-72721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:72637400-72666000	Weak transcription	Ovary	ovary
11	chr11:72637400-72666400	Weak transcription	Right Ventricle	heart
12	chr11:72641800-72680200	Weak transcription	HSMMtube	muscle
13	chr11:72643600-72676400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:72643800-72668400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:72643800-72673000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:72644000-72662000	Weak transcription	Osteobl	bone
17	chr11:72644600-72662000	Weak transcription	Liver	Liver
18	chr11:72647200-72670800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:72647200-72680800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:72647400-72662200	Weak transcription	Fetal Lung	lung
21	chr11:72648800-72660200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:72648800-72661800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:72649000-72721600	Weak transcription	Thymus	Thymus
24	chr11:72649600-72681600	Weak transcription	Aorta	Aorta
25	chr11:72649800-72657800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:72649800-72679400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:72650400-72658000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:72650400-72666600	Weak transcription	HepG2	liver
29	chr11:72651400-72662400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:72651400-72666400	Weak transcription	HUVEC	blood vessel
31	chr11:72651400-72696600	Weak transcription	Brain Anterior Caudate	brain
32	chr11:72651600-72680400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:72651600-72680600	Weak transcription	Fetal Stomach	stomach
34	chr11:72651800-72674600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:72651800-72680800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:72652000-72666000	Weak transcription	Brain Substantia Nigra	brain
37	chr11:72652200-72666000	Weak transcription	Left Ventricle	heart
38	chr11:72653200-72660800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:72653400-72664200	Weak transcription	Fetal Intestine Small	intestine
40	chr11:72653400-72681800	Weak transcription	Pancreas	Pancrea
41	chr11:72654000-72657800	Weak transcription	Primary B cells from cord blood	blood
42	chr11:72654000-72671200	Weak transcription	HSMM	muscle
43	chr11:72657000-72658400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr11:72657000-72658800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr11:72657600-72658600	ZNF genes & repeats	GM12878-XiMat	blood

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