Variant report

Variant	rs2252797
Chromosome Location	chr8:11382659-11382660
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10108511	1.00[JPT][hapmap]
rs1042701	1.00[JPT][hapmap]
rs2127127	1.00[JPT][hapmap]
rs2252534	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2264306	0.96[YRI][hapmap]
rs2409798	1.00[JPT][hapmap]
rs2618434	0.91[YRI][hapmap]
rs2618443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2618445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2618446	0.94[ASN][1000 genomes]
rs2618450	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2618451	1.00[CHB][hapmap]
rs2729940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2736364	0.89[ASN][1000 genomes]
rs6983727	1.00[JPT][hapmap]
rs7464263	1.00[JPT][hapmap]
rs7822958	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2252797	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11372200-11386000	Weak transcription	Spleen	Spleen
2	chr8:11380800-11385400	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr8:11381800-11382800	Flanking Active TSS	Dnd41	blood
4	chr8:11382000-11382800	Enhancers	Thymus	Thymus
5	chr8:11382000-11383400	Enhancers	Fetal Thymus	thymus
6	chr8:11382200-11382800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:11382200-11382800	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:11382200-11382800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:11382200-11382800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:11382200-11382800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:11382200-11382800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:11382200-11382800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:11382600-11382800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:11382600-11382800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:11382600-11382800	Enhancers	GM12878-XiMat	blood
16	chr8:11382600-11382800	Enhancers	HMEC	breast
17	chr8:11382600-11382800	Bivalent Enhancer	HUVEC	blood vessel
18	chr8:11382600-11382800	Flanking Active TSS	NHDF-Ad	bronchial
19	chr8:11382600-11384400	Weak transcription	Primary B cells from cord blood	blood

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links