Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173310785..173313074-chr1:173313117..173314644,2	K562	blood:
2	chr1:173306339..173310503-chr1:173312166..173315307,4	K562	blood:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10912600	0.80[ASN][1000 genomes]
rs10912602	0.80[ASN][1000 genomes]
rs11576547	0.90[ASN][1000 genomes]
rs11577537	0.90[ASN][1000 genomes]
rs11577727	0.90[ASN][1000 genomes]
rs11802759	0.80[ASN][1000 genomes]
rs12723393	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12736195	0.90[ASN][1000 genomes]
rs12742673	0.90[ASN][1000 genomes]
rs12750865	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1342036	1.00[ASN][1000 genomes]
rs1539258	0.90[ASN][1000 genomes]
rs1557121	0.80[ASN][1000 genomes]
rs17346550	0.90[ASN][1000 genomes]
rs1857066	0.80[ASN][1000 genomes]
rs2027498	0.80[ASN][1000 genomes]
rs2027499	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2105325	0.80[ASN][1000 genomes]
rs2153775	0.80[ASN][1000 genomes]
rs2422349	0.80[ASN][1000 genomes]
rs34746916	0.90[ASN][1000 genomes]
rs34972373	0.90[ASN][1000 genomes]
rs35407548	0.90[ASN][1000 genomes]
rs35538218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4298771	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4382762	0.80[ASN][1000 genomes]
rs4916215	0.90[ASN][1000 genomes]
rs4916340	0.80[ASN][1000 genomes]
rs6681162	0.83[ASN][1000 genomes]
rs6681482	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7528321	0.80[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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv523009	chr1:173305632-173324296	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17350669	GORAB	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173299200-173316600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:173299800-173316600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:173300600-173329200	Weak transcription	Primary T cells from cord blood	blood
4	chr1:173301400-173321200	Weak transcription	Ovary	ovary
5	chr1:173309200-173324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:173311400-173315000	Weak transcription	Gastric	stomach
7	chr1:173311400-173315200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:173311600-173313000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:173311600-173314200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:173311600-173315200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:173311800-173334000	Weak transcription	HSMMtube	muscle
12	chr1:173312000-173313400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:173312000-173315000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:173312000-173315000	Weak transcription	HSMM	muscle

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