Variant report

Variant	rs7563955
Chromosome Location	chr2:40622176-40622177
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13405660	0.89[ASN][1000 genomes]
rs13417463	0.83[ASN][1000 genomes]
rs55661117	0.83[ASN][1000 genomes]
rs58215370	0.94[ASN][1000 genomes]
rs72941907	0.89[ASN][1000 genomes]
rs73926638	0.83[ASN][1000 genomes]
rs73928973	0.94[ASN][1000 genomes]
rs73928975	0.94[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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7563955	SLC8A1	cis	Whole Blood	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40612600-40622600	Weak transcription	HSMM	muscle
2	chr2:40617200-40623600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:40617600-40622800	Enhancers	Fetal Heart	heart
4	chr2:40619000-40624600	Weak transcription	Right Atrium	heart
5	chr2:40620000-40622400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:40620800-40622800	Enhancers	Primary B cells from cord blood	blood
7	chr2:40621000-40622200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:40621000-40622800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:40621000-40622800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:40621000-40623000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:40621000-40623000	Enhancers	Fetal Brain Male	brain
12	chr2:40621000-40623000	Enhancers	Placenta	Placenta
13	chr2:40621000-40623000	Enhancers	HMEC	breast
14	chr2:40621000-40624400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:40621200-40622600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:40621200-40623000	Enhancers	NHEK	skin
17	chr2:40621200-40624800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr2:40621400-40622400	Weak transcription	Liver	Liver
19	chr2:40621400-40622400	Enhancers	Fetal Brain Female	brain
20	chr2:40621400-40622400	Weak transcription	Fetal Lung	lung
21	chr2:40621400-40622400	Weak transcription	Left Ventricle	heart
22	chr2:40621400-40624400	Weak transcription	Right Ventricle	heart
23	chr2:40621800-40622200	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:40621800-40622200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:40621800-40622200	Weak transcription	Adipose Nuclei	Adipose
26	chr2:40621800-40622200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr2:40621800-40622800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:40621800-40622800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:40621800-40622800	Enhancers	NH-A	brain
30	chr2:40621800-40623000	Enhancers	Osteobl	bone
31	chr2:40621800-40623800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:40622000-40622400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr2:40622000-40622600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:40622000-40622800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:40622000-40622800	Enhancers	Brain Anterior Caudate	brain
36	chr2:40622000-40622800	Enhancers	HSMMtube	muscle
37	chr2:40622000-40623000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:40622000-40623000	Enhancers	Fetal Kidney	kidney
39	chr2:40622000-40623000	Enhancers	NHLF	lung
40	chr2:40622000-40623200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:40622000-40623400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:40622000-40623600	Enhancers	Rectal Smooth Muscle	rectum
43	chr2:40622000-40623600	Enhancers	NHDF-Ad	bronchial
44	chr2:40622000-40623800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:40622000-40624200	Enhancers	Dnd41	blood
46	chr2:40622000-40625000	Enhancers	Colon Smooth Muscle	Colon

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