Variant report

Variant	rs3775630
Chromosome Location	chr4:143015738-143015739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10000301	0.87[YRI][hapmap]
rs10000975	0.91[ASN][1000 genomes]
rs10003401	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10003713	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10006183	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10006255	0.91[ASN][1000 genomes]
rs10006284	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10006285	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10007791	0.83[ASN][1000 genomes]
rs10013734	1.00[GIH][hapmap]
rs10018171	0.90[ASN][1000 genomes]
rs10018345	0.93[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs10026333	0.90[ASN][1000 genomes]
rs10029467	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10030014	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10030954	0.89[ASN][1000 genomes]
rs10032149	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10032157	0.90[ASN][1000 genomes]
rs10032328	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10032526	0.93[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10033103	0.90[ASN][1000 genomes]
rs10519618	0.81[JPT][hapmap]
rs10519631	1.00[GIH][hapmap]
rs10519633	1.00[GIH][hapmap]
rs12330961	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12331260	0.89[ASN][1000 genomes]
rs12498546	0.93[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12500675	0.89[ASN][1000 genomes]
rs12500731	0.90[ASN][1000 genomes]
rs12500835	0.87[TSI][hapmap]
rs12501475	0.85[CEU][hapmap];0.81[JPT][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs12505349	0.85[CEU][hapmap];0.81[JPT][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs12508643	0.88[ASN][1000 genomes]
rs12511892	0.83[ASN][1000 genomes]
rs12639889	0.86[ASN][1000 genomes]
rs12639936	0.84[ASN][1000 genomes]
rs12640533	0.85[ASN][1000 genomes]
rs12640550	0.89[ASN][1000 genomes]
rs12641407	0.90[ASN][1000 genomes]
rs12642708	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12642756	0.92[ASN][1000 genomes]
rs12643489	0.85[CEU][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs12644579	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs1390993	1.00[GIH][hapmap]
rs17015544	0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17015559	0.89[ASN][1000 genomes]
rs17015594	1.00[GIH][hapmap];0.88[TSI][hapmap]
rs17654944	1.00[GIH][hapmap]
rs2270657	0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2270658	0.91[ASN][1000 genomes]
rs2270659	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2276942	0.94[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2627828	1.00[GIH][hapmap]
rs2627829	1.00[GIH][hapmap]
rs28373344	0.89[ASN][1000 genomes]
rs28458916	0.91[ASN][1000 genomes]
rs28588595	0.91[ASN][1000 genomes]
rs28605546	0.88[ASN][1000 genomes]
rs28667237	0.87[AFR][1000 genomes]
rs28708386	0.90[ASN][1000 genomes]
rs3756117	0.92[CHB][hapmap];0.90[ASN][1000 genomes]
rs3775616	0.85[CEU][hapmap];0.81[JPT][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs3775639	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3775640	0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3775641	0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3775642	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3775643	0.85[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs3775644	0.86[ASN][1000 genomes]
rs3775647	0.82[ASN][1000 genomes]
rs3775648	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3775649	0.82[ASN][1000 genomes]
rs3775650	0.88[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap]
rs3775651	0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap]
rs3775652	0.88[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap]
rs3775653	0.88[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap]
rs3775654	0.88[CHB][hapmap];0.92[GIH][hapmap];0.83[JPT][hapmap]
rs3775655	0.82[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.83[JPT][hapmap]
rs3775657	0.88[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap]
rs3775658	0.88[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap]
rs3822140	0.89[ASN][1000 genomes]
rs4501295	1.00[GIH][hapmap]
rs4956318	0.82[CEU][hapmap]
rs4956435	1.00[GIH][hapmap];0.88[TSI][hapmap]
rs4956436	0.82[CEU][hapmap]
rs55666838	0.87[ASN][1000 genomes]
rs55679069	0.85[ASN][1000 genomes]
rs55728718	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55784399	0.86[ASN][1000 genomes]
rs56024852	0.86[ASN][1000 genomes]
rs56156331	0.86[ASN][1000 genomes]
rs56334109	0.87[ASN][1000 genomes]
rs58531376	0.91[ASN][1000 genomes]
rs59505980	0.80[EUR][1000 genomes]
rs67277330	0.90[ASN][1000 genomes]
rs6813782	0.89[ASN][1000 genomes]
rs6813798	0.87[ASN][1000 genomes]
rs6827500	0.92[ASN][1000 genomes]
rs6828680	0.80[ASN][1000 genomes]
rs6829180	0.83[ASN][1000 genomes]
rs6837581	0.89[ASN][1000 genomes]
rs6842783	0.81[CHB][hapmap];0.91[GIH][hapmap];0.89[ASN][1000 genomes]
rs6845623	0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6848191	0.92[ASN][1000 genomes]
rs6848385	0.92[ASN][1000 genomes]
rs6850756	0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6853904	0.88[ASN][1000 genomes]
rs72716496	0.80[EUR][1000 genomes]
rs72718408	0.82[EUR][1000 genomes]
rs72718440	0.91[ASN][1000 genomes]
rs72946978	0.91[ASN][1000 genomes]
rs7697702	1.00[GIH][hapmap];0.88[TSI][hapmap]
rs9308148	0.92[GIH][hapmap]
rs9985602	0.90[ASN][1000 genomes]
rs9986085	0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9995208	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9995231	0.89[ASN][1000 genomes]
rs9998887	0.92[ASN][1000 genomes]
rs9999736	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142948400-143029200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:142988200-143029400	Weak transcription	Left Ventricle	heart
3	chr4:142990000-143051200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:142997800-143024600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:143001400-143040600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:143002600-143041800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:143004000-143017000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:143004000-143021800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:143004600-143051600	Weak transcription	Pancreas	Pancrea
10	chr4:143006200-143016400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:143007200-143016800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:143007400-143025400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:143007600-143024800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:143008000-143025600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:143010400-143043400	Weak transcription	Psoas Muscle	Psoas
16	chr4:143010400-143057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:143012400-143023000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr4:143012400-143040600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:143012800-143017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:143013000-143016400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:143013000-143016400	Weak transcription	Osteobl	bone
22	chr4:143013000-143016600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:143013000-143016800	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:143013000-143017000	Weak transcription	NHLF	lung
25	chr4:143013200-143015800	Strong transcription	HSMMtube	muscle
26	chr4:143013400-143016800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:143013400-143017000	Weak transcription	Fetal Heart	heart
28	chr4:143013600-143016800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:143014000-143016400	Weak transcription	HUVEC	blood vessel
30	chr4:143014000-143016600	Strong transcription	NHEK	skin
31	chr4:143014000-143016800	Strong transcription	HSMM	muscle
32	chr4:143014000-143017600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:143014000-143017600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:143014000-143035800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:143014200-143016400	Weak transcription	Primary T cells from cord blood	blood
36	chr4:143014200-143016600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:143014200-143021800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:143014400-143022600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:143014600-143016400	Weak transcription	NHDF-Ad	bronchial
40	chr4:143014600-143016600	Weak transcription	NH-A	brain
41	chr4:143014600-143026200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:143014600-143049600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:143015000-143016000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:143015200-143016400	Strong transcription	HMEC	breast
45	chr4:143015200-143017600	Strong transcription	Dnd41	blood
46	chr4:143015400-143015800	Enhancers	Esophagus	oesophagus
47	chr4:143015400-143015800	Strong transcription	Fetal Muscle Leg	muscle
48	chr4:143015400-143015800	Genic enhancers	Hela-S3	cervix
49	chr4:143015400-143016000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr4:143015400-143016000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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