Variant report

Variant	rs942683
Chromosome Location	chr1:85319741-85319742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10127586	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10127852	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161469	0.86[EUR][1000 genomes]
rs12133105	1.00[ASN][1000 genomes]
rs13374798	1.00[ASN][1000 genomes]
rs1359607	1.00[ASN][1000 genomes]
rs2389787	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389788	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35604148	1.00[ASN][1000 genomes]
rs4265445	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400627	1.00[ASN][1000 genomes]
rs4617419	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs72717001	1.00[ASN][1000 genomes]
rs72717002	1.00[ASN][1000 genomes]
rs72718706	1.00[ASN][1000 genomes]
rs72718707	1.00[ASN][1000 genomes]
rs72718708	1.00[ASN][1000 genomes]
rs942684	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:66 , 50 per page) page: 1 2

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	chr1:85313400-85320400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:85313600-85330600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:85313600-85357200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:85314000-85330400	Weak transcription	Pancreas	Pancrea
7	chr1:85314400-85320400	Weak transcription	Left Ventricle	heart
8	chr1:85314600-85328400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:85315200-85322000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:85315600-85336400	Weak transcription	Right Ventricle	heart
11	chr1:85316200-85320800	Enhancers	Placenta	Placenta
12	chr1:85316600-85321600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:85317600-85319800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:85317600-85319800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:85317600-85319800	Weak transcription	Osteobl	bone
16	chr1:85317600-85320000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:85317600-85322200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:85317800-85319800	Weak transcription	NH-A	brain
19	chr1:85319000-85320000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:85319000-85320400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:85319000-85320600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:85319000-85320600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:85319000-85320800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:85319000-85320800	Enhancers	Fetal Intestine Large	intestine
25	chr1:85319000-85321200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:85319000-85321400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:85319000-85321400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:85319000-85321400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:85319000-85321400	Enhancers	HMEC	breast
30	chr1:85319000-85321600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:85319000-85321600	Enhancers	Hela-S3	cervix
32	chr1:85319000-85322000	Enhancers	NHDF-Ad	bronchial
33	chr1:85319200-85320000	Enhancers	Colonic Mucosa	Colon
34	chr1:85319200-85320000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:85319200-85320400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:85319200-85320800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:85319200-85320800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:85319200-85320800	Enhancers	Esophagus	oesophagus
39	chr1:85319200-85321000	Enhancers	Fetal Intestine Small	intestine
40	chr1:85319200-85321000	Enhancers	NHLF	lung
41	chr1:85319200-85321200	Enhancers	Primary hematopoietic stem cells	blood
42	chr1:85319200-85321200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr1:85319400-85320800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr1:85319400-85320800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr1:85319400-85321000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr1:85319400-85321000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:85319400-85321200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:85319400-85321200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr1:85319400-85321200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:85319400-85321200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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