Variant report

Variant	rs12291587
Chromosome Location	chr11:63571197-63571198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63570205..63572019-chr11:63580900..63582897,2	MCF-7	breast:
2	chr11:63568932..63571893-chr11:63593228..63594762,2	MCF-7	breast:
3	chr11:63568859..63571826-chr11:63579605..63584324,5	K562	blood:
4	chr11:63535611..63537592-chr11:63569044..63572004,3	MCF-7	breast:
5	chr11:63534835..63538239-chr11:63570214..63572925,3	MCF-7	breast:
6	chr11:63569529..63574543-chr11:63580305..63583483,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255651	Chromatin interaction
ENSG00000168005	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11551215	0.89[EUR][1000 genomes]
rs12278871	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12285245	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2957205	1.00[ASN][1000 genomes]
rs2959885	1.00[ASN][1000 genomes]
rs3016160	1.00[ASN][1000 genomes]
rs3740635	0.92[ASN][1000 genomes]
rs41509648	1.00[EUR][1000 genomes]
rs510804	1.00[ASN][1000 genomes]
rs580155	0.92[ASN][1000 genomes]
rs58508927	0.84[EUR][1000 genomes]
rs598301	0.92[ASN][1000 genomes]
rs623539	1.00[ASN][1000 genomes]
rs7113873	1.00[ASN][1000 genomes]
rs7122132	1.00[EUR][1000 genomes]
rs73492249	0.92[ASN][1000 genomes]
rs73492251	0.92[ASN][1000 genomes]
rs73492252	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3413647	chr11:63550425-63582789	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63565000-63573800	Weak transcription	Right Atrium	heart
2	chr11:63567600-63580000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:63569600-63575800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:63569800-63571400	Flanking Active TSS	Hela-S3	cervix
5	chr11:63569800-63575000	Enhancers	Placenta	Placenta
6	chr11:63570000-63571200	Enhancers	HMEC	breast
7	chr11:63570000-63571800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr11:63570200-63571200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:63570200-63571200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:63570200-63571200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:63570200-63571200	Enhancers	HSMM	muscle
12	chr11:63570200-63571200	Enhancers	K562	blood
13	chr11:63570200-63572200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:63570200-63572600	Enhancers	Fetal Intestine Small	intestine
15	chr11:63570200-63576800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:63570400-63571200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:63570400-63571200	Enhancers	NHLF	lung
18	chr11:63570400-63572000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:63570400-63572400	Enhancers	Fetal Intestine Large	intestine
20	chr11:63570400-63572400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr11:63570400-63572600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:63570400-63572800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr11:63570600-63578600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:63570600-63579200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:63570600-63580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:63570800-63571400	Enhancers	Osteobl	bone
27	chr11:63570800-63571800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:63570800-63572000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:63570800-63572000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:63570800-63572400	Enhancers	NHEK	skin
31	chr11:63570800-63578800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:63571000-63572200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:63571000-63573800	Weak transcription	Lung	lung
34	chr11:63571000-63578800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:63571000-63578800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:63571000-63580000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:63571000-63580000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:63571000-63580000	Weak transcription	A549	lung

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