Variant report

Variant	rs11161469
Chromosome Location	chr1:85317858-85317859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10127586	0.86[EUR][1000 genomes]
rs10127852	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2389788	0.86[EUR][1000 genomes]
rs4265445	0.86[EUR][1000 genomes]
rs4617419	0.84[EUR][1000 genomes]
rs942683	0.86[EUR][1000 genomes]
rs942684	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85289400-85330800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:85313000-85332800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:85313400-85319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:85313400-85320400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:85313600-85330600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:85313600-85357200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:85313800-85319000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:85313800-85319000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:85314000-85319000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:85314000-85319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:85314000-85319000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:85314000-85319200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:85314000-85319200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:85314000-85330400	Weak transcription	Pancreas	Pancrea
15	chr1:85314200-85319600	Weak transcription	Stomach Mucosa	stomach
16	chr1:85314400-85319000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:85314400-85319200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:85314400-85320400	Weak transcription	Left Ventricle	heart
19	chr1:85314600-85319200	Weak transcription	Colonic Mucosa	Colon
20	chr1:85314600-85328400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:85315000-85318600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:85315200-85322000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:85315600-85336400	Weak transcription	Right Ventricle	heart
24	chr1:85316200-85320800	Enhancers	Placenta	Placenta
25	chr1:85316400-85318400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:85316400-85318800	Enhancers	NHLF	lung
27	chr1:85316600-85318600	Enhancers	NHDF-Ad	bronchial
28	chr1:85316600-85319000	Weak transcription	Fetal Intestine Large	intestine
29	chr1:85316600-85319600	Weak transcription	Fetal Heart	heart
30	chr1:85316600-85321600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:85316800-85319200	Weak transcription	Fetal Intestine Small	intestine
32	chr1:85317000-85318000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:85317000-85318600	Enhancers	Hela-S3	cervix
34	chr1:85317200-85318400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:85317200-85319400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:85317600-85318000	Weak transcription	HMEC	breast
37	chr1:85317600-85318200	Weak transcription	Esophagus	oesophagus
38	chr1:85317600-85319400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:85317600-85319400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:85317600-85319800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:85317600-85319800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:85317600-85319800	Weak transcription	Osteobl	bone
43	chr1:85317600-85320000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:85317600-85322200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:85317800-85318000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:85317800-85318000	Weak transcription	NHEK	skin
47	chr1:85317800-85319800	Weak transcription	NH-A	brain

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