Variant report

Variant	rs791595
Chromosome Location	chr7:127862802-127862803
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	chr7:127861984..127865041-chr7:127865310..127867337,3	K562	blood:
2	chr7:127862647..127864792-chr7:127867370..127870104,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34494123	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4728093	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731420	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs791597	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv5945	chr7:127852004-127880768	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv429811	chr7:127857891-127889049	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Type 2 diabetes	23945395	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs791595	KCP	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127844000-127875600	Weak transcription	Right Atrium	heart
2	chr7:127850000-127867400	Weak transcription	Spleen	Spleen
3	chr7:127856000-127863600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:127860800-127863400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:127861400-127863200	Enhancers	NHLF	lung
6	chr7:127861400-127863400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:127861400-127863400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:127861400-127863400	Enhancers	HMEC	breast
9	chr7:127861400-127863400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr7:127861600-127863200	Enhancers	Primary B cells from cord blood	blood
11	chr7:127861600-127863400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:127861600-127863400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:127861600-127863400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:127861600-127863400	Enhancers	Adipose Nuclei	Adipose
15	chr7:127861600-127863400	Enhancers	HSMMtube	muscle
16	chr7:127861600-127863400	Enhancers	Osteobl	bone
17	chr7:127861600-127863600	Enhancers	HSMM	muscle
18	chr7:127861800-127863400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:127861800-127863400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:127861800-127863400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:127862200-127863000	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:127862200-127863000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:127862200-127863600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr7:127862400-127863400	Enhancers	Hela-S3	cervix
25	chr7:127862400-127863800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:127862600-127863400	Enhancers	NHDF-Ad	bronchial
27	chr7:127862800-127863200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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