Variant report

Variant	rs573529
Chromosome Location	chr11:72687549-72687550
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72686975..72688834-chr11:72691101..72692704,2	MCF-7	breast:
2	chr11:72687090..72688837-chr11:72693209..72695483,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12223361	1.00[AFR][1000 genomes]
rs1783576	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1785213	1.00[EUR][1000 genomes]
rs58006230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105776	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72636200-72694800	Weak transcription	Adipose Nuclei	Adipose
2	chr11:72636400-72712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:72637000-72721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:72649000-72721600	Weak transcription	Thymus	Thymus
5	chr11:72651400-72696600	Weak transcription	Brain Anterior Caudate	brain
6	chr11:72666200-72689600	Weak transcription	Esophagus	oesophagus
7	chr11:72666600-72721600	Weak transcription	Lung	lung
8	chr11:72667000-72700600	Weak transcription	Brain Angular Gyrus	brain
9	chr11:72669400-72689600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:72669800-72721800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:72671000-72689400	Weak transcription	Fetal Lung	lung
12	chr11:72673000-72708000	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:72675000-72692000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:72675000-72692800	Weak transcription	HepG2	liver
15	chr11:72675200-72700600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:72675600-72696600	Weak transcription	Brain Substantia Nigra	brain
17	chr11:72675600-72696800	Weak transcription	Fetal Kidney	kidney
18	chr11:72675800-72690600	Weak transcription	Liver	Liver
19	chr11:72675800-72700800	Weak transcription	Spleen	Spleen
20	chr11:72679400-72687600	Enhancers	NHDF-Ad	bronchial
21	chr11:72679600-72687600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:72680200-72687600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:72680200-72689600	Weak transcription	Fetal Thymus	thymus
24	chr11:72680600-72687800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:72681400-72690400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:72681800-72689400	Weak transcription	HUVEC	blood vessel
27	chr11:72681800-72720200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:72682000-72689400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:72682000-72690200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:72682000-72695000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:72682000-72695600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:72682000-72701400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:72682000-72710600	Weak transcription	Aorta	Aorta
34	chr11:72682200-72695200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:72682200-72696600	Weak transcription	Colonic Mucosa	Colon
36	chr11:72682600-72696600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:72682800-72689600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:72682800-72690600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr11:72682800-72690800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:72682800-72697200	Weak transcription	K562	blood
41	chr11:72682800-72700800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:72682800-72721600	Weak transcription	Right Ventricle	heart
43	chr11:72683000-72694800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:72683000-72706600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:72683400-72687600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:72684000-72692600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:72684000-72701000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:72684000-72712800	Weak transcription	Small Intestine	intestine
49	chr11:72684000-72721600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:72684200-72687600	Enhancers	HSMM	muscle

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