Variant report

Variant	rs291401
Chromosome Location	chr2:191117120-191117121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1866848	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2251866	1.00[AFR][1000 genomes]
rs2664265	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs291457	0.91[AFR][1000 genomes]
rs698602	1.00[YRI][hapmap]
rs698605	0.81[AFR][1000 genomes]
rs785050	0.81[AFR][1000 genomes]
rs785051	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv875620	chr2:191100723-191141593	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv875621	chr2:191117120-191177131	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:191056800-191131800	Weak transcription	NHEK	skin
3	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
4	chr2:191089000-191128800	Weak transcription	Gastric	stomach
5	chr2:191096800-191117400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:191099400-191131800	Weak transcription	HMEC	breast
7	chr2:191100000-191122400	Weak transcription	Colonic Mucosa	Colon
8	chr2:191100000-191150400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:191100400-191128000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:191104400-191151000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:191105000-191180000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:191106000-191117200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:191106200-191117200	Strong transcription	Liver	Liver
14	chr2:191106200-191117400	Strong transcription	Adipose Nuclei	Adipose
15	chr2:191106200-191132200	Weak transcription	Hela-S3	cervix
16	chr2:191106600-191117200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:191106600-191131800	Weak transcription	NHLF	lung
18	chr2:191106800-191117200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:191106800-191118000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:191107000-191122400	Strong transcription	Primary B cells from cord blood	blood
21	chr2:191107400-191122800	Weak transcription	HSMMtube	muscle
22	chr2:191107400-191150600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:191107600-191117200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:191107800-191125600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:191108000-191129400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:191108200-191122400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:191108200-191129200	Weak transcription	Spleen	Spleen
28	chr2:191108200-191135400	Weak transcription	Right Ventricle	heart
29	chr2:191108200-191180000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:191108800-191118200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:191108800-191124600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:191109000-191122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:191109200-191119800	Weak transcription	Left Ventricle	heart
34	chr2:191109600-191120000	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:191109600-191120400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:191109600-191122200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:191109600-191122400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:191109600-191122400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:191109600-191122400	Weak transcription	Fetal Brain Male	brain
40	chr2:191109600-191122400	Weak transcription	Lung	lung
41	chr2:191109600-191122400	Weak transcription	Thymus	Thymus
42	chr2:191109600-191123200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:191109600-191124000	Weak transcription	Esophagus	oesophagus
44	chr2:191109600-191126600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:191109600-191128000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:191109600-191135800	Weak transcription	Fetal Brain Female	brain
47	chr2:191109800-191118200	Weak transcription	NH-A	brain
48	chr2:191109800-191121600	Weak transcription	A549	lung
49	chr2:191109800-191122400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:191109800-191122400	Weak transcription	Placenta	Placenta

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