Variant report

Variant	rs9310523
Chromosome Location	chr3:17626394-17626395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:17622861..17624843-chr3:17625072..17627372,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10212255	1.00[ASN][1000 genomes]
rs11717644	1.00[ASN][1000 genomes]
rs11720653	1.00[ASN][1000 genomes]
rs12494513	1.00[ASN][1000 genomes]
rs13085441	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13093375	1.00[ASN][1000 genomes]
rs13317478	1.00[ASN][1000 genomes]
rs13320693	1.00[ASN][1000 genomes]
rs13327810	1.00[ASN][1000 genomes]
rs13353435	1.00[ASN][1000 genomes]
rs17043494	1.00[ASN][1000 genomes]
rs17043539	1.00[ASN][1000 genomes]
rs17043541	1.00[ASN][1000 genomes]
rs17273020	1.00[ASN][1000 genomes]
rs34892692	1.00[ASN][1000 genomes]
rs6442681	1.00[ASN][1000 genomes]
rs6772394	1.00[ASN][1000 genomes]
rs67851870	1.00[ASN][1000 genomes]
rs6787756	1.00[ASN][1000 genomes]
rs6799259	1.00[ASN][1000 genomes]
rs7623979	1.00[ASN][1000 genomes]
rs7632989	1.00[ASN][1000 genomes]
rs7644020	1.00[ASN][1000 genomes]
rs7645756	1.00[ASN][1000 genomes]
rs7648883	1.00[ASN][1000 genomes]
rs7651278	1.00[ASN][1000 genomes]
rs9810675	1.00[ASN][1000 genomes]
rs9812199	1.00[ASN][1000 genomes]
rs9821955	1.00[ASN][1000 genomes]
rs9847461	1.00[ASN][1000 genomes]
rs9848610	1.00[ASN][1000 genomes]
rs9853571	1.00[ASN][1000 genomes]
rs9854201	1.00[ASN][1000 genomes]
rs9855515	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9869999	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9870741	1.00[ASN][1000 genomes]
rs9880971	1.00[ASN][1000 genomes]
rs9881089	1.00[ASN][1000 genomes]
rs9881850	1.00[ASN][1000 genomes]
rs9883518	1.00[ASN][1000 genomes]
rs9985472	0.95[AMR][1000 genomes];0.94[EUR][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	nsv876591	chr3:17246392-17671992	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv915606	chr3:17357042-17668263	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv999460	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv536510	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1013069	chr3:17560456-17783372	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17616000-17663600	Weak transcription	Left Ventricle	heart
2	chr3:17619800-17631600	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:17620000-17631600	Weak transcription	Brain Substantia Nigra	brain
4	chr3:17620200-17627400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:17621600-17627400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:17621600-17627400	Weak transcription	Osteobl	bone
7	chr3:17621600-17629800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr3:17621600-17631400	Weak transcription	Fetal Thymus	thymus
9	chr3:17621800-17627000	Weak transcription	HUVEC	blood vessel
10	chr3:17622000-17630800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:17622000-17632200	Weak transcription	Primary T cells from cord blood	blood
12	chr3:17622200-17631200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:17622200-17638800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:17622600-17627000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:17622600-17631200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr3:17622600-17631600	Weak transcription	Primary B cells from cord blood	blood
17	chr3:17622800-17631000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:17623200-17627400	Weak transcription	Dnd41	blood
19	chr3:17623600-17627000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:17623600-17627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:17623600-17631400	Weak transcription	Fetal Lung	lung
22	chr3:17623800-17627400	Weak transcription	A549	lung
23	chr3:17623800-17631400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:17624200-17627000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:17625400-17633000	Weak transcription	Psoas Muscle	Psoas

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