Variant report

Variant	rs11891249
Chromosome Location	chr2:40622721-40622722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11904797	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72941959	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40617200-40623600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:40617600-40622800	Enhancers	Fetal Heart	heart
3	chr2:40619000-40624600	Weak transcription	Right Atrium	heart
4	chr2:40620800-40622800	Enhancers	Primary B cells from cord blood	blood
5	chr2:40621000-40622800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:40621000-40622800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:40621000-40623000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:40621000-40623000	Enhancers	Fetal Brain Male	brain
9	chr2:40621000-40623000	Enhancers	Placenta	Placenta
10	chr2:40621000-40623000	Enhancers	HMEC	breast
11	chr2:40621000-40624400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:40621200-40623000	Enhancers	NHEK	skin
13	chr2:40621200-40624800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:40621400-40624400	Weak transcription	Right Ventricle	heart
15	chr2:40621800-40622800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:40621800-40622800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:40621800-40622800	Enhancers	NH-A	brain
18	chr2:40621800-40623000	Enhancers	Osteobl	bone
19	chr2:40621800-40623800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:40622000-40622800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:40622000-40622800	Enhancers	Brain Anterior Caudate	brain
22	chr2:40622000-40622800	Enhancers	HSMMtube	muscle
23	chr2:40622000-40623000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:40622000-40623000	Enhancers	Fetal Kidney	kidney
25	chr2:40622000-40623000	Enhancers	NHLF	lung
26	chr2:40622000-40623200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:40622000-40623400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:40622000-40623600	Enhancers	Rectal Smooth Muscle	rectum
29	chr2:40622000-40623600	Enhancers	NHDF-Ad	bronchial
30	chr2:40622000-40623800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:40622000-40624200	Enhancers	Dnd41	blood
32	chr2:40622000-40625000	Enhancers	Colon Smooth Muscle	Colon
33	chr2:40622200-40622800	Enhancers	Aorta	Aorta
34	chr2:40622200-40623000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:40622200-40623000	Enhancers	Adipose Nuclei	Adipose
36	chr2:40622200-40623600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr2:40622200-40635600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr2:40622400-40622800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:40622400-40622800	Enhancers	Liver	Liver
40	chr2:40622400-40622800	Weak transcription	Fetal Brain Female	brain
41	chr2:40622400-40622800	Enhancers	Left Ventricle	heart
42	chr2:40622400-40622800	Enhancers	Psoas Muscle	Psoas
43	chr2:40622400-40623000	Enhancers	Brain Hippocampus Middle	brain
44	chr2:40622400-40623000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:40622600-40622800	Enhancers	Fetal Lung	lung
46	chr2:40622600-40622800	Enhancers	A549	lung
47	chr2:40622600-40623000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr2:40622600-40623200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:40622600-40623200	Enhancers	HSMM	muscle
50	chr2:40622600-40627600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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