Variant report

Variant	rs336377
Chromosome Location	chr4:142986050-142986051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11729372	0.84[ASN][1000 genomes]
rs11932936	0.87[ASN][1000 genomes]
rs1353603	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1355425	0.87[ASN][1000 genomes]
rs1355426	0.87[ASN][1000 genomes]
rs1390987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1390988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1390990	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1390991	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1397735	1.00[CHB][hapmap]
rs1511253	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1511255	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1849061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs189211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1912712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2645788	0.87[ASN][1000 genomes]
rs2645800	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2667094	0.86[JPT][hapmap]
rs2667095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2667108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2667109	0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2667110	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2667117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2667118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs336294	0.85[CHB][hapmap]
rs336299	0.85[CHB][hapmap]
rs336302	0.85[CHB][hapmap]
rs336303	0.85[CHB][hapmap]
rs336304	0.85[CHB][hapmap]
rs336306	0.85[CHB][hapmap]
rs336311	0.82[CHB][hapmap]
rs336313	0.85[CHB][hapmap]
rs336317	0.85[CHB][hapmap]
rs336325	0.85[CHB][hapmap]
rs336329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs336330	0.85[CHB][hapmap]
rs336336	0.85[CHB][hapmap]
rs336368	0.87[ASN][1000 genomes]
rs336370	0.87[ASN][1000 genomes]
rs336372	0.87[ASN][1000 genomes]
rs336373	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs336374	0.87[ASN][1000 genomes]
rs336375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs336376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs336378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs336379	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs336380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs336381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs336382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs336383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3775636	0.85[CHB][hapmap]
rs4342262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4499771	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7695279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[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:39 , 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	chr4:142966000-142987000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:142966000-142987600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:142966000-143010000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:142966000-143013800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:142974600-142987600	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:142977400-142987400	Weak transcription	HSMMtube	muscle
13	chr4:142977400-142987600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:142977400-142987600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:142977600-142986200	Weak transcription	NHDF-Ad	bronchial
16	chr4:142978000-142986600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:142978000-142994000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:142978000-143002200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr4:142978200-142986600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:142978200-142986800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:142978200-142987000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:142978200-142987600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:142978200-142987600	Weak transcription	HSMM	muscle
24	chr4:142978200-142997400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:142978200-143001400	Weak transcription	Dnd41	blood
26	chr4:142978200-143006200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:142978800-142988800	Weak transcription	NHEK	skin
28	chr4:142979200-142994600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:142982600-142986800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:142983600-142987400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:142983600-142987600	Weak transcription	Left Ventricle	heart
32	chr4:142983800-142987600	Weak transcription	Aorta	Aorta
33	chr4:142984400-142987800	Weak transcription	Osteobl	bone
34	chr4:142984600-142986400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:142984600-142987400	Weak transcription	Primary T cells from cord blood	blood
36	chr4:142984600-142995400	Weak transcription	HMEC	breast
37	chr4:142984800-142987400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr4:142985800-142987400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:142985800-143011000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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