Variant report

Variant	rs2627805
Chromosome Location	chr4:143134024-143134025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10002140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10010617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10013734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10013826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10020099	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10026164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10027089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10027480	0.84[ASN][1000 genomes]
rs1039132	0.87[EUR][1000 genomes]
rs1039133	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs1039134	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10519631	1.00[CEU][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10519633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10519638	0.82[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12500835	0.94[EUR][1000 genomes]
rs12502271	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs12503726	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs12507662	0.92[EUR][1000 genomes]
rs1390992	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1390993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1497142	0.94[ASN][1000 genomes]
rs1497143	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1497144	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17015583	0.87[EUR][1000 genomes]
rs17015594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17015598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17646885	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17646914	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17654944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1845974	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1874574	0.90[EUR][1000 genomes]
rs1907110	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1907123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1907131	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1907132	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1907133	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1907136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2055211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2322543	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2627803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627821	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2627825	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2627826	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2627828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2627829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2627830	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2627831	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2636652	1.00[JPT][hapmap]
rs2636661	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2636664	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2636665	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2636687	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2636689	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2636690	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2645824	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28602561	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3102442	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3104278	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3104279	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3775648	0.82[CEU][hapmap]
rs3775674	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4574489	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4956317	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs4956318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4956435	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4956436	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4956437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56044460	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs66532978	0.87[EUR][1000 genomes]
rs66588504	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66625631	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67288745	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67746056	0.94[EUR][1000 genomes]
rs67935763	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68037727	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6816247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6852106	0.94[EUR][1000 genomes]
rs72718464	0.87[EUR][1000 genomes]
rs72718482	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72718498	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72720404	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72720416	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72720418	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72722457	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72722463	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7695458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7697702	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs7699731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9308148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	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
3	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
4	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143070400-143134400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:143072000-143137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:143082400-143134800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:143095000-143154200	Weak transcription	Left Ventricle	heart
6	chr4:143112600-143137600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:143114600-143150600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:143116800-143141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:143122600-143143600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:143128800-143135000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:143128800-143157200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:143128800-143158600	Weak transcription	NHDF-Ad	bronchial
13	chr4:143129000-143134800	Weak transcription	HSMMtube	muscle
14	chr4:143129000-143153400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:143129000-143155200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:143129000-143157200	Weak transcription	Dnd41	blood
17	chr4:143129200-143147400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:143129200-143152200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:143129200-143155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:143129200-143157200	Weak transcription	NHEK	skin
21	chr4:143129200-143169600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:143129600-143134400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:143129600-143139000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:143130200-143134400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:143130200-143134600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:143130200-143157200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:143130400-143134400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:143131600-143152200	Weak transcription	HSMM	muscle
29	chr4:143133200-143137200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:143133400-143135800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:143133600-143135400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:143133600-143157200	Weak transcription	HMEC	breast
33	chr4:143133800-143134200	Enhancers	Fetal Heart	heart
34	chr4:143133800-143134400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:143133800-143134800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
36	chr4:143133800-143135600	Strong transcription	Primary T cells from cord blood	blood
37	chr4:143133800-143146200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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