Variant report

Variant	rs57414975
Chromosome Location	chr5:94910761-94910762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11949777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11951564	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11951853	0.83[AFR][1000 genomes]
rs11953259	1.00[AMR][1000 genomes]
rs11958573	1.00[AMR][1000 genomes]
rs17084844	0.89[AFR][1000 genomes]
rs17084856	0.84[AFR][1000 genomes]
rs17084871	0.84[AFR][1000 genomes]
rs17084888	0.83[AFR][1000 genomes]
rs17084908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17084925	0.83[AFR][1000 genomes]
rs2881774	0.89[AFR][1000 genomes]
rs56742088	0.83[AFR][1000 genomes]
rs57520226	0.83[AFR][1000 genomes]
rs57901676	1.00[AMR][1000 genomes]
rs58364348	0.83[AFR][1000 genomes]
rs59601824	0.83[AFR][1000 genomes]
rs59728284	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60632886	0.89[AFR][1000 genomes]
rs73147905	0.94[AFR][1000 genomes]
rs73147915	0.94[AFR][1000 genomes]
rs73147917	0.94[AFR][1000 genomes]
rs73147919	0.94[AFR][1000 genomes]
rs73147928	0.84[AFR][1000 genomes]
rs73147929	0.94[AFR][1000 genomes]
rs73147938	0.89[AFR][1000 genomes]
rs73147967	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73147968	0.89[AFR][1000 genomes]
rs73147970	0.83[AFR][1000 genomes]
rs7703196	1.00[AMR][1000 genomes]
rs7708692	0.94[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	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830408	chr5:94894032-94915995	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94892200-94934400	Weak transcription	Fetal Stomach	stomach
2	chr5:94892200-94936600	Weak transcription	Fetal Lung	lung
3	chr5:94892400-94911200	Weak transcription	HMEC	breast
4	chr5:94892400-94921000	Weak transcription	Psoas Muscle	Psoas
5	chr5:94892400-94922400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:94892400-94926000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:94892400-94926200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:94892400-94926200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:94892400-94926200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:94892400-94926600	Weak transcription	NH-A	brain
11	chr5:94892400-94937200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:94894000-94919000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:94898200-94926000	Weak transcription	Thymus	Thymus
14	chr5:94900400-94942400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:94900600-94913200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:94900600-94919600	Weak transcription	K562	blood
17	chr5:94900600-94921200	Weak transcription	Pancreas	Pancrea
18	chr5:94901000-94916400	Weak transcription	Fetal Brain Male	brain
19	chr5:94901600-94926400	Weak transcription	HUVEC	blood vessel
20	chr5:94902000-94925800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:94902000-94936600	Weak transcription	HSMMtube	muscle
22	chr5:94903200-94911800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:94903600-94925800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:94904000-94926800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:94904200-94911800	Weak transcription	Fetal Intestine Small	intestine
26	chr5:94904200-94919600	Weak transcription	Fetal Heart	heart
27	chr5:94904600-94926200	Weak transcription	GM12878-XiMat	blood
28	chr5:94904600-94936600	Weak transcription	Adipose Nuclei	Adipose
29	chr5:94904600-94939400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:94904800-94926400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:94904800-94926600	Weak transcription	Left Ventricle	heart
32	chr5:94904800-94931600	Weak transcription	Liver	Liver
33	chr5:94905000-94912600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:94905000-94925800	Weak transcription	Dnd41	blood
35	chr5:94905000-94926000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:94905000-94936600	Weak transcription	Fetal Intestine Large	intestine
37	chr5:94905000-94936600	Weak transcription	Ovary	ovary
38	chr5:94905000-94936800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:94905000-94936800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:94905000-94939200	Weak transcription	Aorta	Aorta
41	chr5:94905000-94940600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:94905200-94919600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:94905200-94926400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:94905400-94925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:94905400-94926400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:94905600-94918600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:94905600-94925800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:94906200-94919000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:94906200-94926000	Weak transcription	Fetal Thymus	thymus
50	chr5:94906400-94916600	Weak transcription	Primary B cells from cord blood	blood

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