Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86905357..86907939-chr1:86912947..86914769,2	K562	blood:
2	chr1:86906490..86909038-chr1:86911078..86912632,2	K562	blood:

Variant related genes	Relation type
ENSG00000137975	Chromatin interaction

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11161808	0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs12023726	0.83[AMR][1000 genomes]
rs12023799	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12029568	0.83[AMR][1000 genomes]
rs12030666	0.83[AMR][1000 genomes]
rs12032435	0.83[AMR][1000 genomes]
rs12034967	0.83[AMR][1000 genomes]
rs12037028	0.83[AMR][1000 genomes]
rs12038844	0.83[AMR][1000 genomes]
rs12039899	0.83[AMR][1000 genomes]
rs12042822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12043873	0.83[AMR][1000 genomes]
rs12045012	0.83[AMR][1000 genomes]
rs12046199	0.83[AMR][1000 genomes]
rs12047304	0.83[AMR][1000 genomes]
rs12047913	0.83[AMR][1000 genomes]
rs12048082	0.83[AMR][1000 genomes]
rs12048329	0.83[AMR][1000 genomes]
rs12747430	0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs2274999	0.83[AMR][1000 genomes]
rs28688345	0.83[AMR][1000 genomes]
rs36096788	0.93[ASN][1000 genomes]
rs3737671	0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3765509	0.83[AMR][1000 genomes]
rs3765984	0.93[ASN][1000 genomes]
rs3765987	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs3820041	0.93[ASN][1000 genomes]
rs4497186	0.83[AMR][1000 genomes]
rs4656103	0.93[ASN][1000 genomes]
rs55812833	0.97[ASN][1000 genomes]
rs55825812	0.97[ASN][1000 genomes]
rs55857117	0.90[ASN][1000 genomes]
rs56187142	0.97[ASN][1000 genomes]
rs57955693	0.90[ASN][1000 genomes]
rs58658794	0.90[ASN][1000 genomes]
rs59775624	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86896600-86914400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:86897200-86922600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:86897200-86922800	Strong transcription	HMEC	breast
4	chr1:86897400-86916000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:86902000-86913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:86902200-86907200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:86902400-86907000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:86902400-86907400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:86903400-86926800	Weak transcription	Esophagus	oesophagus
10	chr1:86905800-86909400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:86906200-86907000	Weak transcription	NHEK	skin
12	chr1:86906800-86908000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:86906800-86908000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:86906800-86908000	Enhancers	Dnd41	blood
15	chr1:86906800-86908200	Enhancers	Primary T cells from cord blood	blood
16	chr1:86906800-86908200	Enhancers	Thymus	Thymus
17	chr1:86906800-86909000	Enhancers	Fetal Thymus	thymus

Quick Search: