Variant report

Variant	rs7519761
Chromosome Location	chr1:222012300-222012301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12125690	0.92[YRI][hapmap]
rs4308986	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4528124	0.83[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7515604	0.82[JPT][hapmap]
rs7544656	0.82[JPT][hapmap]
rs9441981	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222000600-222019000	Weak transcription	Lung	lung
2	chr1:222004200-222012800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:222005800-222019000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:222006200-222012600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:222006800-222012600	Weak transcription	Esophagus	oesophagus
6	chr1:222008200-222013400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:222008400-222012600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:222008600-222012600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:222008600-222012600	Weak transcription	NHEK	skin
10	chr1:222008800-222013800	Weak transcription	Fetal Lung	lung
11	chr1:222008800-222018800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:222009000-222012800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:222009400-222012600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:222009400-222012800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:222009600-222012800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:222009600-222013200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:222009800-222012600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:222010200-222012600	Weak transcription	HMEC	breast
19	chr1:222010400-222015200	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:222010600-222012600	Weak transcription	Hela-S3	cervix
21	chr1:222010600-222015000	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:222010800-222013800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:222011200-222014000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:222011400-222014000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:222011400-222015000	Enhancers	HUVEC	blood vessel
26	chr1:222011600-222012800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:222011600-222012800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:222011600-222013600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr1:222011600-222015600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:222011600-222018800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:222011800-222012800	Enhancers	GM12878-XiMat	blood
32	chr1:222011800-222013000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:222011800-222013000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:222011800-222013400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:222011800-222015600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:222011800-222016000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:222012000-222012400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:222012000-222013000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:222012000-222013600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:222012200-222012800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:222012200-222013200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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