Variant report

Variant	rs7591708
Chromosome Location	chr2:63022050-63022051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63016408..63018608-chr2:63020047..63022575,3	MCF-7	breast:
2	chr2:63014382..63017181-chr2:63021418..63024030,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10153716	0.84[ASN][1000 genomes]
rs12713469	0.89[ASW][hapmap];0.89[GIH][hapmap];0.89[LWK][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap]
rs13410889	0.82[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.85[ASN][1000 genomes]
rs1468748	0.81[CHB][hapmap];0.89[CHD][hapmap]
rs17027429	0.88[CHD][hapmap]
rs1828398	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs1877026	0.82[CHB][hapmap]
rs2080227	0.82[CHB][hapmap]
rs2421816	0.86[CHD][hapmap]
rs2430386	0.82[ASN][1000 genomes]
rs2539978	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs2539982	0.83[ASN][1000 genomes]
rs2539990	0.85[ASN][1000 genomes]
rs2710637	0.89[CHD][hapmap];0.81[JPT][hapmap]
rs2710651	0.85[ASN][1000 genomes]
rs360808	0.96[CEU][hapmap];0.87[GIH][hapmap];0.87[LWK][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs4671051	0.85[ASN][1000 genomes]
rs4671448	0.87[CEU][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6545972	0.88[CHD][hapmap]
rs6545973	0.88[CHD][hapmap]
rs6714241	0.89[ASW][hapmap];0.88[CHD][hapmap];0.91[LWK][hapmap];0.89[YRI][hapmap]
rs7557501	0.88[CHD][hapmap]
rs7562149	0.82[CHB][hapmap];0.93[CHD][hapmap];0.84[ASN][1000 genomes]
rs7567923	0.91[CHD][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	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7591708	WDPCP	cis	lymphoblastoid	seeQTL
rs7591708	COMMD1	cis	cerebellum	SCAN
rs7591708	MDH1	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62982200-63033400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:63010800-63032800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:63013600-63022200	Weak transcription	HMEC	breast
4	chr2:63017000-63029000	Weak transcription	Ovary	ovary
5	chr2:63017000-63032600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:63017000-63033400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:63017000-63037400	Weak transcription	NHLF	lung
8	chr2:63017400-63022200	Weak transcription	Fetal Lung	lung
9	chr2:63017400-63022400	Weak transcription	Adipose Nuclei	Adipose
10	chr2:63017400-63032800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:63017400-63049400	Weak transcription	Fetal Heart	heart
12	chr2:63018200-63033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:63019200-63022600	Enhancers	HepG2	liver
14	chr2:63019600-63043400	Weak transcription	Brain Angular Gyrus	brain
15	chr2:63020000-63026600	Weak transcription	Dnd41	blood
16	chr2:63020400-63022200	Enhancers	NHDF-Ad	bronchial
17	chr2:63020400-63024800	Enhancers	Liver	Liver
18	chr2:63020600-63022800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:63020600-63023400	Enhancers	Colon Smooth Muscle	Colon
20	chr2:63020600-63023800	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:63020600-63082000	Weak transcription	Pancreas	Pancrea
22	chr2:63020800-63040200	Weak transcription	Left Ventricle	heart
23	chr2:63021200-63022800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:63021200-63022800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:63021400-63022200	Enhancers	Osteobl	bone
26	chr2:63021600-63022400	Enhancers	NH-A	brain
27	chr2:63021600-63022400	Enhancers	NHEK	skin
28	chr2:63021600-63022600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr2:63021800-63022400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:63021800-63022400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:63021800-63022400	Enhancers	HSMM	muscle
32	chr2:63021800-63022600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:63021800-63022800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:63021800-63022800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:63021800-63022800	Enhancers	Fetal Kidney	kidney
36	chr2:63021800-63023200	Enhancers	HUVEC	blood vessel
37	chr2:63021800-63023600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:63022000-63022400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:63022000-63022400	Flanking Active TSS	A549	lung
40	chr2:63022000-63022400	Enhancers	Hela-S3	cervix
41	chr2:63022000-63022800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:63022000-63022800	Enhancers	Brain Hippocampus Middle	brain
43	chr2:63022000-63023400	Enhancers	Cortex derived primary cultured neurospheres	brain

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