Variant report

Variant	rs539311
Chromosome Location	chr11:75067918-75067919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75067230..75070089-chr11:75082011..75083842,2	MCF-7	breast:
2	chr11:75061810..75065838-chr11:75066153..75069996,4	MCF-7	breast:
3	chr11:75067548..75069783-chr11:75074663..75077055,2	MCF-7	breast:
4	chr11:75060264..75064517-chr11:75067052..75070249,4	MCF-7	breast:
5	chr11:75065936..75068463-chr11:75068645..75070545,2	K562	blood:

Variant related genes	Relation type
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11236400	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12290249	0.83[EUR][1000 genomes]
rs2510894	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs506412	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs508798	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs518115	0.82[EUR][1000 genomes]
rs519947	0.81[EUR][1000 genomes]
rs527106	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs582477	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs677106	0.81[AMR][1000 genomes];0.84[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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75063600-75076800	Weak transcription	Hela-S3	cervix
2	chr11:75064200-75068200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:75064200-75068600	Weak transcription	Small Intestine	intestine
4	chr11:75064200-75086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:75064600-75071800	Weak transcription	Primary B cells from cord blood	blood
6	chr11:75066600-75076000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:75067000-75068000	Enhancers	Primary T cells from cord blood	blood
8	chr11:75067000-75068000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:75067000-75068000	Enhancers	HMEC	breast
10	chr11:75067000-75068800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:75067200-75076400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:75067400-75068000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:75067400-75068000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:75067400-75068200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:75067400-75068200	Enhancers	HSMM	muscle
16	chr11:75067400-75069000	Enhancers	HUVEC	blood vessel
17	chr11:75067600-75068000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:75067600-75068000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:75067600-75068000	Enhancers	NHDF-Ad	bronchial
20	chr11:75067600-75068200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:75067600-75068200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr11:75067600-75068200	Enhancers	HSMMtube	muscle
23	chr11:75067600-75068600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:75067600-75068800	Enhancers	Spleen	Spleen
25	chr11:75067600-75069000	Enhancers	Fetal Muscle Leg	muscle
26	chr11:75067800-75068000	Enhancers	Lung	lung
27	chr11:75067800-75068200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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