Variant report

Variant	rs7091343
Chromosome Location	chr10:49698532-49698533
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49698395..49701025-chr10:49710345..49712604,2	K562	blood:
2	chr10:49698265..49700401-chr10:49714707..49717015,2	K562	blood:
3	chr10:49698335..49701028-chr10:49818067..49819689,2	K562	blood:
4	chr10:49692019..49695584-chr10:49695676..49700242,5	K562	blood:
5	chr10:49696721..49698715-chr10:49730106..49732575,2	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10776605	1.00[MEX][hapmap]
rs10857581	0.82[LWK][hapmap];1.00[MEX][hapmap]
rs1867575	1.00[MEX][hapmap]
rs3867450	1.00[MEX][hapmap]
rs4838411	1.00[MEX][hapmap]
rs4838603	1.00[MEX][hapmap]
rs935278	0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][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:24 , 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	chr10:49689200-49701400	Weak transcription	Right Atrium	heart
10	chr10:49689400-49699000	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:49689400-49701000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:49693000-49701800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:49695400-49699200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:49696200-49698800	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr10:49696600-49698600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:49696800-49702600	Weak transcription	HSMM	muscle
17	chr10:49697200-49700600	Weak transcription	K562	blood
18	chr10:49697400-49698600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr10:49698000-49699200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:49698000-49699200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
22	chr10:49698200-49699800	Strong transcription	NHLF	lung
23	chr10:49698200-49702600	Enhancers	Brain Substantia Nigra	brain
24	chr10:49698400-49703800	Enhancers	Primary hematopoietic stem cells	blood

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