Variant report

Variant	rs12290190
Chromosome Location	chr11:75434496-75434497
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75433887..75434795-chr11:75578561..75579159,2	MCF-7	breast:
2	chr11:75434018..75434855-chr11:75578862..75579600,2	K562	blood:
3	chr11:75434323..75434879-chr11:75513918..75514849,2	MCF-7	breast:
4	chr11:75434325..75436917-chr11:75510297..75512123,2	MCF-7	breast:
5	chr11:75434277..75434872-chr11:75514073..75514916,2	K562	blood:
6	chr11:75433968..75434843-chr11:75511712..75512681,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254814	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12274372	0.85[AMR][1000 genomes]
rs12288807	0.85[AMR][1000 genomes]
rs59187373	0.85[AMR][1000 genomes]
rs59484939	0.85[AMR][1000 genomes]
rs73504503	0.85[AMR][1000 genomes]
rs73504505	0.85[AMR][1000 genomes]
rs73504506	0.85[AMR][1000 genomes]
rs73504507	0.85[AMR][1000 genomes]
rs73504509	0.85[AMR][1000 genomes]
rs73504523	0.85[AMR][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75429600-75439600	Weak transcription	Fetal Stomach	stomach
2	chr11:75429800-75436800	Weak transcription	Right Atrium	heart
3	chr11:75430200-75436800	Weak transcription	Right Ventricle	heart
4	chr11:75430400-75434800	Weak transcription	Fetal Heart	heart
5	chr11:75431000-75439800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:75431200-75436800	Weak transcription	Left Ventricle	heart
7	chr11:75431200-75437000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:75432600-75435200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:75433200-75434800	Enhancers	Colonic Mucosa	Colon
10	chr11:75433200-75443200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:75433600-75435000	Enhancers	Fetal Intestine Large	intestine
12	chr11:75433600-75435200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:75433800-75434600	Weak transcription	HMEC	breast
14	chr11:75433800-75434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:75433800-75439600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:75434000-75435000	Weak transcription	Adipose Nuclei	Adipose
17	chr11:75434000-75435200	Enhancers	Liver	Liver
18	chr11:75434000-75435200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:75434000-75435200	Enhancers	HepG2	liver
20	chr11:75434000-75436800	Genic enhancers	Fetal Intestine Small	intestine
21	chr11:75434200-75435200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:75434200-75435400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:75434400-75434600	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:75434400-75441200	Strong transcription	Rectal Mucosa Donor 29	rectum

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