Variant report

Variant	rs12466415
Chromosome Location	chr2:20064698-20064699
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20063399..20066786-chr2:20072740..20074746,3	K562	blood:
2	chr2:20063170..20065730-chr2:20100500..20102018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271991	Chromatin interaction
ENSG00000183891	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2276607	0.92[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5021924	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873711	chr2:19950864-20073860	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv873712	chr2:19955245-20131079	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv455819	chr2:19987440-20095690	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv581155	chr2:19987440-20095690	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv873714	chr2:20019616-20113088	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv873715	chr2:20059323-20144372	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20060600-20065200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:20062200-20066600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:20062200-20068200	Weak transcription	NHDF-Ad	bronchial
4	chr2:20063000-20065200	Enhancers	Fetal Thymus	thymus
5	chr2:20063000-20065600	Enhancers	GM12878-XiMat	blood
6	chr2:20063600-20067800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:20063600-20068000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:20063600-20068000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:20063600-20068000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:20063600-20068000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:20063600-20068000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:20063600-20068000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:20063600-20068200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:20063600-20068200	Weak transcription	Fetal Lung	lung
15	chr2:20063600-20068400	Weak transcription	Lung	lung
16	chr2:20063600-20070600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:20063800-20066000	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:20063800-20067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:20063800-20068000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:20063800-20068000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:20063800-20068000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:20063800-20068000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:20063800-20068200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:20063800-20068200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:20063800-20068200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:20063800-20068200	Weak transcription	Right Ventricle	heart
27	chr2:20063800-20068200	Weak transcription	Osteobl	bone
28	chr2:20063800-20068400	Weak transcription	Colonic Mucosa	Colon
29	chr2:20063800-20068400	Weak transcription	Esophagus	oesophagus
30	chr2:20063800-20068400	Weak transcription	Left Ventricle	heart
31	chr2:20063800-20068400	Weak transcription	Pancreas	Pancrea
32	chr2:20064000-20068200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:20064600-20064800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr2:20064600-20065000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:20064600-20065200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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