Variant report

Variant	rs6592520
Chromosome Location	chr11:73048267-73048268
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73046705..73048894-chr11:73069950..73071689,2	K562	blood:
2	chr11:73035604..73038970-chr11:73047692..73050704,4	K562	blood:
3	chr11:73046247..73049825-chr11:73086101..73089098,3	MCF-7	breast:
4	chr11:73035604..73038970-chr11:73047692..73050704,3	K562	blood:
5	chr11:73036618..73038343-chr11:73047458..73049963,2	MCF-7	breast:
6	chr11:73008083..73009994-chr11:73047285..73048973,2	MCF-7	breast:
7	chr11:73013244..73016848-chr11:73045967..73048517,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10898917	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11235729	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11820037	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820929	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11821094	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11823923	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824050	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824614	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827650	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275766	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282282	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293998	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294659	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894076	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027760	0.96[ASN][1000 genomes]
rs2027761	0.92[ASN][1000 genomes]
rs2027763	0.96[ASN][1000 genomes]
rs2298807	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741149	0.96[ASN][1000 genomes]
rs55771351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56363880	0.96[ASN][1000 genomes]
rs56397594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56801796	0.81[EUR][1000 genomes]
rs57592318	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57893472	0.96[ASN][1000 genomes]
rs58364325	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60700454	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61037777	0.96[ASN][1000 genomes]
rs61131329	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61705659	0.92[ASN][1000 genomes]
rs6592519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592521	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102787	0.96[ASN][1000 genomes]
rs7105681	0.96[ASN][1000 genomes]
rs7105705	0.96[ASN][1000 genomes]
rs7107905	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7115605	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122560	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7125978	0.96[ASN][1000 genomes]
rs7131383	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930880	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7933754	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949364	0.96[ASN][1000 genomes]
rs876480	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947837	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73044800-73053000	Weak transcription	Aorta	Aorta
2	chr11:73045800-73053400	Weak transcription	Pancreas	Pancrea
3	chr11:73046000-73051000	Weak transcription	Esophagus	oesophagus
4	chr11:73046200-73049200	Weak transcription	Ovary	ovary
5	chr11:73046400-73051000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:73046400-73051200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:73046400-73051200	Weak transcription	Left Ventricle	heart
8	chr11:73046400-73052800	Weak transcription	Brain Germinal Matrix	brain
9	chr11:73046400-73052800	Weak transcription	Lung	lung
10	chr11:73046400-73053000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:73046400-73053200	Weak transcription	Gastric	stomach
12	chr11:73046400-73053400	Weak transcription	Brain Substantia Nigra	brain
13	chr11:73046600-73049000	Weak transcription	Adipose Nuclei	Adipose
14	chr11:73046600-73049800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:73046600-73051000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:73046600-73051000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:73046600-73051000	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:73046600-73051000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:73046600-73051200	Weak transcription	NHEK	skin
20	chr11:73046600-73053000	Weak transcription	Right Atrium	heart
21	chr11:73046600-73053400	Weak transcription	Colonic Mucosa	Colon
22	chr11:73046600-73053400	Weak transcription	Fetal Brain Male	brain
23	chr11:73046600-73058600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:73046600-73058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:73046600-73061600	Weak transcription	Primary B cells from cord blood	blood
26	chr11:73046600-73075400	Weak transcription	A549	lung
27	chr11:73046800-73053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:73047000-73048800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:73047000-73048800	Weak transcription	NHDF-Ad	bronchial
30	chr11:73047000-73048800	Strong transcription	Osteobl	bone
31	chr11:73047000-73049000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:73047000-73049000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:73047000-73049000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:73047000-73049000	Weak transcription	Placenta	Placenta
35	chr11:73047000-73049000	Weak transcription	Right Ventricle	heart
36	chr11:73047000-73049000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:73047000-73049200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:73047000-73049200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:73047000-73049200	Strong transcription	Fetal Intestine Large	intestine
40	chr11:73047000-73049400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:73047000-73051000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:73047000-73051000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:73047000-73051000	Weak transcription	Brain Anterior Caudate	brain
44	chr11:73047000-73051000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:73047000-73052800	Weak transcription	Liver	Liver
46	chr11:73047000-73053000	Strong transcription	Fetal Stomach	stomach
47	chr11:73047000-73053200	Weak transcription	Fetal Brain Female	brain
48	chr11:73047000-73053200	Strong transcription	Fetal Intestine Small	intestine
49	chr11:73047000-73053200	Weak transcription	HSMM	muscle
50	chr11:73047000-73053400	Weak transcription	Fetal Kidney	kidney

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