Variant report

Variant	rs336375
Chromosome Location	chr4:142987112-142987113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11729372	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11932936	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1353603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355426	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390989	0.80[AFR][1000 genomes]
rs1390990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397735	1.00[CHB][hapmap]
rs1511253	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511255	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1849061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs189211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1912712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645788	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645800	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667094	0.86[JPT][hapmap]
rs2667095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667109	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336293	0.85[ASN][1000 genomes]
rs336294	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs336299	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs336301	0.85[ASN][1000 genomes]
rs336302	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs336303	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs336304	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs336306	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs336311	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs336313	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs336314	0.85[ASN][1000 genomes]
rs336316	0.85[ASN][1000 genomes]
rs336317	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs336325	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs336327	0.85[ASN][1000 genomes]
rs336329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336330	0.85[CHB][hapmap]
rs336336	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs336368	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336370	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336372	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs336373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336374	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs336378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775636	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs3775638	0.83[ASN][1000 genomes]
rs4342262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4499771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv830096	chr4:142867099-143023761	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv428775	chr4:142943213-143050195	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv830097	chr4:142949705-143136372	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3468281	chr4:142985184-142987548	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	inside rSNPs	diseases
8	esv3468282	chr4:142985292-142987374	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142948400-143029200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:142959200-142995600	Weak transcription	Fetal Heart	heart
3	chr4:142961800-143009600	Weak transcription	A549	lung
4	chr4:142962200-143002200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:142963400-143001000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:142963400-143002200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:142966000-142987600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:142966000-143010000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:142966000-143013800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:142974600-142987600	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:142977400-142987400	Weak transcription	HSMMtube	muscle
12	chr4:142977400-142987600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:142977400-142987600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:142978000-142994000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:142978000-143002200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:142978200-142987600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:142978200-142987600	Weak transcription	HSMM	muscle
18	chr4:142978200-142997400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:142978200-143001400	Weak transcription	Dnd41	blood
20	chr4:142978200-143006200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:142978800-142988800	Weak transcription	NHEK	skin
22	chr4:142979200-142994600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:142983600-142987400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:142983600-142987600	Weak transcription	Left Ventricle	heart
25	chr4:142983800-142987600	Weak transcription	Aorta	Aorta
26	chr4:142984400-142987800	Weak transcription	Osteobl	bone
27	chr4:142984600-142987400	Weak transcription	Primary T cells from cord blood	blood
28	chr4:142984600-142995400	Weak transcription	HMEC	breast
29	chr4:142984800-142987400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:142985800-142987400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:142985800-143011000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:142986400-142988000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:142986600-142987200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:142986600-142989200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr4:142986800-142988400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:142986800-142988400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:142987000-142987600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:142987000-142988400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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