Variant report

Variant	rs336374
Chromosome Location	chr4:142988110-142988111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11729372	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11932936	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1353603	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355425	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355426	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390987	0.99[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390988	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390990	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390991	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511253	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511255	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1849061	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs189211	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1912712	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645788	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645800	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667095	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667108	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667109	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667110	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667117	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667118	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336293	0.85[ASN][1000 genomes]
rs336294	0.85[ASN][1000 genomes]
rs336299	0.85[ASN][1000 genomes]
rs336301	0.85[ASN][1000 genomes]
rs336302	0.83[ASN][1000 genomes]
rs336303	0.83[ASN][1000 genomes]
rs336304	0.83[ASN][1000 genomes]
rs336306	0.83[ASN][1000 genomes]
rs336311	0.85[ASN][1000 genomes]
rs336313	0.85[ASN][1000 genomes]
rs336314	0.85[ASN][1000 genomes]
rs336316	0.85[ASN][1000 genomes]
rs336317	0.85[ASN][1000 genomes]
rs336325	0.85[ASN][1000 genomes]
rs336327	0.85[ASN][1000 genomes]
rs336329	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336336	0.83[ASN][1000 genomes]
rs336366	0.96[AFR][1000 genomes]
rs336368	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336370	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336372	1.00[ASN][1000 genomes]
rs336373	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336375	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336376	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336377	0.87[ASN][1000 genomes]
rs336378	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336379	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336380	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336381	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336382	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336383	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775636	0.85[ASN][1000 genomes]
rs3775638	0.83[ASN][1000 genomes]
rs4342262	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4499771	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695279	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

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	chr4:142966000-143010000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:142966000-143013800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:142978000-142994000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:142978000-143002200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr4:142978200-142997400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:142978200-143001400	Weak transcription	Dnd41	blood
13	chr4:142978200-143006200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:142978800-142988800	Weak transcription	NHEK	skin
15	chr4:142979200-142994600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:142984600-142995400	Weak transcription	HMEC	breast
17	chr4:142985800-143011000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:142986600-142989200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr4:142986800-142988400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:142986800-142988400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:142987000-142988400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:142987200-142989200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:142987400-142988800	Strong transcription	Primary T cells from cord blood	blood
24	chr4:142987400-142989000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:142987600-142988200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:142987600-142988200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr4:142987600-142988200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:142987600-142988200	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr4:142987600-142988200	ZNF genes & repeats	Left Ventricle	heart
30	chr4:142987600-142988400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:142987600-142988400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:142987600-142996600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:142987800-142988400	ZNF genes & repeats	Fetal Stomach	stomach
34	chr4:142987800-142991000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:142987800-142996400	Weak transcription	HSMMtube	muscle
36	chr4:142987800-142997400	Weak transcription	HSMM	muscle
37	chr4:142988000-142988800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:142988000-143015400	Weak transcription	Aorta	Aorta

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