Variant report

Variant	rs59982630
Chromosome Location	chr11:120180430-120180431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120172975..120174511-chr11:120180188..120181790,2	MCF-7	breast:
2	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
3	chr11:120177470..120179089-chr11:120179127..120181642,2	K562	blood:
4	chr11:120177200..120179089-chr11:120179127..120181932,2	K562	blood:
5	chr11:120179013..120183815-chr11:120184501..120187839,4	MCF-7	breast:
6	chr11:120179002..120180619-chr11:120195965..120197864,2	K562	blood:

Variant related genes	Relation type
ENSG00000181264	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1043467	1.00[EUR][1000 genomes]
rs11217836	1.00[EUR][1000 genomes]
rs12270828	1.00[EUR][1000 genomes]
rs12279547	1.00[EUR][1000 genomes]
rs12279552	1.00[EUR][1000 genomes]
rs12287078	1.00[EUR][1000 genomes]
rs12288721	1.00[EUR][1000 genomes]
rs34217050	1.00[EUR][1000 genomes]
rs35985298	1.00[EUR][1000 genomes]
rs56861657	1.00[AMR][1000 genomes]
rs57912743	1.00[AMR][1000 genomes]
rs59801719	1.00[EUR][1000 genomes]
rs60577845	1.00[AMR][1000 genomes]
rs60676831	1.00[EUR][1000 genomes]
rs73584172	1.00[EUR][1000 genomes]
rs73584179	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr11:120173200-120181200	Weak transcription	Fetal Intestine Large	intestine
2	chr11:120173800-120181200	Weak transcription	Fetal Intestine Small	intestine
3	chr11:120176000-120183600	Weak transcription	Small Intestine	intestine
4	chr11:120176400-120187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:120176600-120181800	Weak transcription	Colonic Mucosa	Colon
6	chr11:120177200-120187600	Weak transcription	Gastric	stomach
7	chr11:120177600-120180800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:120177800-120182200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:120177800-120187200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:120177800-120187400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:120178000-120184800	Weak transcription	NHEK	skin
12	chr11:120178000-120187200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:120178000-120187400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:120178200-120184800	Weak transcription	Placenta	Placenta
15	chr11:120178200-120187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:120178200-120187800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:120178400-120187400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:120179000-120187200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:120179200-120187200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:120179400-120187000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:120179800-120180600	Weak transcription	Lung	lung
22	chr11:120179800-120180800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr11:120180000-120180600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
24	chr11:120180000-120182400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:120180200-120181200	Weak transcription	Stomach Mucosa	stomach
26	chr11:120180400-120180600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
27	chr11:120180400-120185800	Weak transcription	Esophagus	oesophagus

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