Variant report

Variant	rs11809291
Chromosome Location	chr1:62533561-62533562
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55972190	0.98[AFR][1000 genomes]
rs56146113	0.98[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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 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	chr1:62459200-62550000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:62460000-62544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:62469000-62533600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:62484400-62562200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:62495200-62544800	Weak transcription	Liver	Liver
6	chr1:62508200-62628400	Weak transcription	Colonic Mucosa	Colon
7	chr1:62515400-62552400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:62519000-62541600	Weak transcription	HMEC	breast
9	chr1:62519000-62550000	Weak transcription	Primary T cells from cord blood	blood
10	chr1:62519000-62550000	Weak transcription	Pancreas	Pancrea
11	chr1:62519000-62552000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:62521800-62546200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:62523200-62533600	Weak transcription	Psoas Muscle	Psoas
14	chr1:62530600-62534000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:62530800-62541400	Weak transcription	Fetal Kidney	kidney
16	chr1:62531000-62534200	Weak transcription	Fetal Lung	lung
17	chr1:62531400-62533600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:62531800-62533600	Weak transcription	Fetal Heart	heart
19	chr1:62531800-62533600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:62531800-62534000	Weak transcription	Aorta	Aorta
21	chr1:62531800-62534000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:62532000-62534600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:62532200-62534000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:62532400-62534200	Weak transcription	NHEK	skin
25	chr1:62532400-62552400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:62532600-62533600	Weak transcription	Left Ventricle	heart
27	chr1:62532600-62533800	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:62532600-62534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:62532600-62534000	Weak transcription	Fetal Stomach	stomach
30	chr1:62532600-62534000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:62532600-62544600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:62532600-62545000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:62532600-62548800	Weak transcription	Fetal Intestine Small	intestine
34	chr1:62532600-62550000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:62532600-62550600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:62532600-62552400	Weak transcription	Esophagus	oesophagus
37	chr1:62532600-62557400	Weak transcription	Spleen	Spleen
38	chr1:62532600-62568200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:62532600-62569200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:62532600-62587600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:62532800-62533800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:62532800-62545000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:62532800-62552800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:62532800-62569000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:62533000-62534200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:62533200-62534200	Enhancers	Right Ventricle	heart
47	chr1:62533400-62534200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr1:62533400-62534600	Enhancers	Right Atrium	heart
49	chr1:62533400-62534800	Enhancers	Colon Smooth Muscle	Colon
50	chr1:62533400-62550000	Weak transcription	Fetal Intestine Large	intestine

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