Variant report

Variant	rs1077960
Chromosome Location	chr10:49698113-49698114
allele	A/C
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	chr10:49696721..49698715-chr10:49730106..49732575,2	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10776606	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857577	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10857578	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10857579	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10857580	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10857582	0.88[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817012	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]
rs3888298	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3889332	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3910908	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4080664	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4838596	0.81[CHB][hapmap];0.87[CHD][hapmap]
rs7070411	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	chr10:49689400-49699000	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:49689400-49701000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:49693000-49701800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:49695400-49699200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:49696200-49698800	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr10:49696600-49698600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:49696800-49702600	Weak transcription	HSMM	muscle
18	chr10:49697200-49698400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr10:49697200-49700600	Weak transcription	K562	blood
20	chr10:49697400-49698600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr10:49698000-49699200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:49698000-49699200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:49698000-49731200	Weak transcription	Aorta	Aorta

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