Variant report

Variant	rs9812419
Chromosome Location	chr3:23879862-23879863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:23877439..23880001-chr3:23880133..23883001,2	K562	blood:
2	chr3:23871538..23873491-chr3:23878847..23880848,2	MCF-7	breast:
3	chr3:23870792..23874280-chr3:23876265..23880497,5	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10084748	1.00[ASN][1000 genomes]
rs1037635	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11129128	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs13070128	1.00[ASN][1000 genomes]
rs13087250	1.00[ASN][1000 genomes]
rs13316457	1.00[ASN][1000 genomes]
rs13317815	0.83[MEX][hapmap]
rs1567579	1.00[ASN][1000 genomes]
rs1567580	1.00[ASN][1000 genomes]
rs28524116	1.00[ASN][1000 genomes]
rs34036067	1.00[ASN][1000 genomes]
rs34058540	1.00[ASN][1000 genomes]
rs34082882	1.00[ASN][1000 genomes]
rs34866549	1.00[ASN][1000 genomes]
rs34953164	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35136361	1.00[ASN][1000 genomes]
rs35755171	1.00[ASN][1000 genomes]
rs35755253	1.00[ASN][1000 genomes]
rs36060625	0.82[EUR][1000 genomes]
rs36063721	1.00[ASN][1000 genomes]
rs36089963	1.00[ASN][1000 genomes]
rs3762775	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs3935253	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs4131404	1.00[ASN][1000 genomes]
rs4300960	1.00[ASN][1000 genomes]
rs4490300	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs4535169	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4602333	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs4858096	1.00[ASN][1000 genomes]
rs4858554	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4858556	1.00[ASN][1000 genomes]
rs4858564	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs55932805	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6550808	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs66609380	1.00[ASN][1000 genomes]
rs67002637	1.00[ASN][1000 genomes]
rs67236598	1.00[ASN][1000 genomes]
rs67606949	1.00[ASN][1000 genomes]
rs6767005	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775878	1.00[ASN][1000 genomes]
rs6776201	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776568	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778577	0.83[MEX][hapmap]
rs6790140	1.00[ASN][1000 genomes]
rs6791805	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6803214	1.00[ASN][1000 genomes]
rs71324126	1.00[ASN][1000 genomes]
rs73150266	1.00[ASN][1000 genomes]
rs73150299	1.00[ASN][1000 genomes]
rs7610689	1.00[ASN][1000 genomes]
rs7610935	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7611018	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs954748	1.00[ASN][1000 genomes]
rs9809225	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs9853954	1.00[ASN][1000 genomes]
rs9855481	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs9859567	0.80[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9863176	1.00[ASN][1000 genomes]
rs9875577	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9882067	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9883834	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834637	chr3:23703928-23886144	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23853000-23882000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:23853000-23887400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:23853200-23893200	Weak transcription	Thymus	Thymus
4	chr3:23853400-23885600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:23855000-23900200	Weak transcription	HSMM	muscle
6	chr3:23857600-23894000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:23857600-23900000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:23862000-23881400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:23862000-23882000	Weak transcription	Fetal Intestine Large	intestine
10	chr3:23867000-23881400	Weak transcription	HepG2	liver
11	chr3:23868000-23884800	Weak transcription	NHDF-Ad	bronchial
12	chr3:23868000-23897800	Weak transcription	HUVEC	blood vessel
13	chr3:23868200-23881800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:23868200-23883600	Weak transcription	Left Ventricle	heart
15	chr3:23868200-23893000	Weak transcription	Fetal Thymus	thymus
16	chr3:23868600-23881200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:23869600-23881400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:23871000-23880200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:23871200-23883600	Weak transcription	Ovary	ovary
20	chr3:23871200-23899000	Weak transcription	Pancreas	Pancrea
21	chr3:23871400-23897400	Weak transcription	Primary T cells from cord blood	blood
22	chr3:23872000-23897400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:23872400-23881800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:23872600-23886800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:23873000-23887800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr3:23873800-23881800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:23873800-23893000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:23873800-23898000	Weak transcription	NHEK	skin
29	chr3:23874400-23882200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:23874400-23888000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:23875200-23880400	Enhancers	Primary hematopoietic stem cells	blood
32	chr3:23876200-23880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:23876200-23881400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:23876200-23883600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr3:23876800-23882000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:23876800-23906800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:23877000-23880600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr3:23877000-23882000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:23877800-23880200	Enhancers	Psoas Muscle	Psoas
40	chr3:23878200-23881400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:23878200-23881600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:23878200-23882000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:23878200-23883600	Weak transcription	A549	lung
44	chr3:23878400-23880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:23878400-23881800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:23878400-23882000	Weak transcription	Small Intestine	intestine
47	chr3:23878400-23883200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:23878400-23887800	Weak transcription	Right Ventricle	heart
49	chr3:23878400-23898000	Weak transcription	Liver	Liver
50	chr3:23878600-23880000	Enhancers	GM12878-XiMat	blood

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