Variant report

Variant	rs10080595
Chromosome Location	chr6:139907744-139907745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139689865..139691753-chr6:139907672..139909566,2	MCF-7	breast:
2	chr6:139695373..139699220-chr6:139907427..139911701,8	MCF-7	breast:
3	chr6:139691228..139695923-chr6:139905258..139909765,7	K562	blood:
4	chr6:139691841..139699576-chr6:139900868..139917289,34	MCF-7	breast:
5	chr6:139691228..139697226-chr6:139904818..139909765,9	K562	blood:
6	chr6:139902793..139905980-chr6:139905991..139910426,4	MCF-7	breast:
7	chr6:139907382..139909260-chr6:139922632..139925256,2	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1124117	0.89[YRI][hapmap]
rs1124118	0.89[MKK][hapmap];0.89[YRI][hapmap]
rs4275075	0.89[YRI][hapmap]
rs9484290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9495530	0.83[AMR][1000 genomes]
rs9495531	0.83[AMR][1000 genomes]
rs9495533	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9495534	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv970368	chr6:139903788-139911187	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139899600-139908800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:139900000-139908800	Weak transcription	Fetal Lung	lung
3	chr6:139900200-139909000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:139900400-139908800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:139900400-139908800	Weak transcription	Fetal Intestine Large	intestine
6	chr6:139900800-139908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:139900800-139919200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:139902400-139909200	Weak transcription	Right Ventricle	heart
9	chr6:139902600-139908000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:139904600-139908600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:139904800-139908200	Weak transcription	HSMM	muscle
12	chr6:139904800-139908200	Weak transcription	NHDF-Ad	bronchial
13	chr6:139904800-139908800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:139904800-139908800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:139904800-139908800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:139905000-139908200	Weak transcription	NHLF	lung
17	chr6:139905000-139908600	Weak transcription	HMEC	breast
18	chr6:139905000-139908600	Weak transcription	NH-A	brain
19	chr6:139905000-139908600	Weak transcription	NHEK	skin
20	chr6:139905000-139908800	Weak transcription	Osteobl	bone
21	chr6:139905400-139908200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:139906200-139908000	Weak transcription	HUVEC	blood vessel
23	chr6:139906200-139909200	Weak transcription	Placenta	Placenta
24	chr6:139906800-139913400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:139906800-139913800	Enhancers	Fetal Kidney	kidney
26	chr6:139907000-139907800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr6:139907000-139907800	Enhancers	K562	blood
28	chr6:139907200-139908200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:139907200-139909000	Enhancers	A549	lung
30	chr6:139907200-139919800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr6:139907400-139907800	Enhancers	Ovary	ovary
32	chr6:139907400-139908200	Enhancers	Fetal Heart	heart
33	chr6:139907400-139909400	Enhancers	HepG2	liver
34	chr6:139907400-139910200	Enhancers	Stomach Mucosa	stomach
35	chr6:139907600-139907800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr6:139907600-139907800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr6:139907600-139908600	Enhancers	Hela-S3	cervix
38	chr6:139907600-139908800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:139907600-139909000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr6:139907600-139909200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:139907600-139909200	Weak transcription	Left Ventricle	heart
42	chr6:139907600-139910600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:139907600-139913800	Weak transcription	Pancreas	Pancrea
44	chr6:139907600-139918400	Weak transcription	Fetal Brain Male	brain
45	chr6:139907600-139925200	Weak transcription	Aorta	Aorta

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