Variant report

Variant	rs17705389
Chromosome Location	chr4:143132651-143132652
allele	C/T
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	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10003428	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11724936	0.86[AMR][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];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17015729	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17015754	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]
rs17015774	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17015778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17015779	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2322544	0.83[EUR][1000 genomes]
rs2322546	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2322547	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2322548	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2627810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2636646	0.83[EUR][1000 genomes]
rs2636652	0.83[CEU][hapmap];0.80[TSI][hapmap]
rs28420315	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28448773	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28529144	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28533923	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28584886	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28611471	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28647625	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28672226	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28690972	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28705116	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs336388	0.86[EUR][1000 genomes]
rs3775664	0.84[ASW][hapmap];0.94[LWK][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap]
rs4629539	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6818542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6818735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6835967	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6844709	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6846839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6847049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7672615	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7691738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[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	chr4:143125200-143133800	Weak transcription	Fetal Heart	heart
11	chr4:143128800-143135000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:143128800-143157200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:143128800-143158600	Weak transcription	NHDF-Ad	bronchial
14	chr4:143129000-143133800	Weak transcription	Primary T cells from cord blood	blood
15	chr4:143129000-143134800	Weak transcription	HSMMtube	muscle
16	chr4:143129000-143153400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:143129000-143155200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:143129000-143157200	Weak transcription	Dnd41	blood
19	chr4:143129200-143132800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:143129200-143147400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:143129200-143152200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:143129200-143155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:143129200-143157200	Weak transcription	NHEK	skin
24	chr4:143129200-143169600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:143129400-143133000	Weak transcription	HMEC	breast
26	chr4:143129600-143133200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:143129600-143134400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:143129600-143139000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:143130000-143133600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:143130200-143133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:143130200-143134400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr4:143130200-143134600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr4:143130200-143157200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:143130400-143134400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:143130800-143133000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:143131600-143132800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:143131600-143152200	Weak transcription	HSMM	muscle

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