Variant report

Variant	rs11817012
Chromosome Location	chr10:49695173-49695174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49692019..49695584-chr10:49695676..49700242,5	K562	blood:
2	chr10:49692001..49694152-chr10:49695095..49697176,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10776606	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1077960	0.88[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857577	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10857578	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10857579	0.95[CHB][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10857580	0.89[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10857582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101348	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs11101349	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs12763969	0.84[JPT][hapmap]
rs12768718	0.83[JPT][hapmap]
rs2377354	0.84[JPT][hapmap]
rs3888298	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3889332	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3910908	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4080664	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4838413	0.84[JPT][hapmap]
rs4838596	0.85[CHB][hapmap]
rs4838608	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs4838609	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs6537565	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs7070411	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7098760	0.82[CHB][hapmap];0.83[JPT][hapmap]

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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49679800-49704200	Weak transcription	NH-A	brain
2	chr10:49679800-49704200	Weak transcription	NHDF-Ad	bronchial
3	chr10:49685600-49701000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:49685800-49704800	Weak transcription	HUVEC	blood vessel
5	chr10:49687000-49704400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr10:49687600-49703800	Weak transcription	HSMMtube	muscle
7	chr10:49687800-49699200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:49688800-49699400	Weak transcription	Osteobl	bone
9	chr10:49689200-49698200	Weak transcription	NHLF	lung
10	chr10:49689200-49701400	Weak transcription	Right Atrium	heart
11	chr10:49689400-49695400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:49689400-49699000	Weak transcription	Brain Hippocampus Middle	brain
13	chr10:49689400-49701000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:49689600-49695200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:49692600-49696200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr10:49693000-49701800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:49693400-49695600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr10:49693600-49697200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:49694800-49695400	Strong transcription	HSMM	muscle
20	chr10:49694800-49695600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:49694800-49696000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:49694800-49696800	Enhancers	K562	blood
23	chr10:49694800-49697400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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