Variant report

Variant	rs17015754
Chromosome Location	chr4:143140139-143140140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10001631	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10003428	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1219271	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1219273	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1219274	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs17015623	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17015729	0.94[EUR][1000 genomes]
rs17015774	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17705389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2322544	0.83[EUR][1000 genomes]
rs2322546	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2322547	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2322548	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636646	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2636652	0.83[CEU][hapmap];0.80[TSI][hapmap]
rs28420315	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28448773	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28529144	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28533923	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28584886	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28611471	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28647625	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28672226	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28690972	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28705116	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336388	0.86[EUR][1000 genomes]
rs3775664	0.90[TSI][hapmap]
rs4629539	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818542	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835967	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844709	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6846839	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847049	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722471	0.85[ASN][1000 genomes]
rs7672615	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
4	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
5	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 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	chr4:143095000-143154200	Weak transcription	Left Ventricle	heart
3	chr4:143114600-143150600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:143116800-143141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:143122600-143143600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:143128800-143157200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:143128800-143158600	Weak transcription	NHDF-Ad	bronchial
8	chr4:143129000-143153400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:143129000-143155200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:143129000-143157200	Weak transcription	Dnd41	blood
11	chr4:143129200-143147400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:143129200-143152200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:143129200-143155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:143129200-143157200	Weak transcription	NHEK	skin
15	chr4:143129200-143169600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:143130200-143157200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:143131600-143152200	Weak transcription	HSMM	muscle
18	chr4:143133600-143157200	Weak transcription	HMEC	breast
19	chr4:143133800-143146200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:143134800-143144000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:143135000-143150600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:143135400-143140800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:143135400-143141400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:143135400-143141400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:143135400-143184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:143135600-143143800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr4:143135800-143144000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:143135800-143146000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:143137600-143140200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:143137600-143143600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:143137800-143143200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:143139000-143147200	Weak transcription	Primary T cells from cord blood	blood
33	chr4:143139400-143157200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:143139400-143159600	Weak transcription	HSMMtube	muscle
35	chr4:143139600-143143600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:143140000-143140200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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