Variant report

Variant	rs2957705
Chromosome Location	chr11:10375899-10375900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10840392	0.82[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10840395	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2860284	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2896536	0.88[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2923083	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2923105	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2957704	0.99[ASN][1000 genomes]
rs2957710	0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2957719	0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2957705	ZNF215	cis	cerebellum	SCAN
rs2957705	PTH	cis	cerebellum	SCAN
rs2957705	ARFIP2	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10369800-10378000	Enhancers	Placenta	Placenta
2	chr11:10371200-10376200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr11:10373400-10376000	Weak transcription	Fetal Kidney	kidney
4	chr11:10373600-10376200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:10373600-10376400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:10373600-10376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:10373600-10376600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:10373600-10376600	Weak transcription	HMEC	breast
9	chr11:10373600-10388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:10373800-10377400	Enhancers	Adipose Nuclei	Adipose
11	chr11:10374000-10376400	Weak transcription	NHEK	skin
12	chr11:10374000-10376600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:10374000-10377400	Weak transcription	NHDF-Ad	bronchial
14	chr11:10374200-10376000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:10374200-10376000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:10374200-10376000	Weak transcription	Hela-S3	cervix
17	chr11:10374200-10376000	Weak transcription	NHLF	lung
18	chr11:10374200-10376200	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:10374200-10376200	Weak transcription	Right Atrium	heart
20	chr11:10374200-10376600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr11:10374200-10386400	Weak transcription	Small Intestine	intestine
22	chr11:10374400-10376000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:10374600-10376200	Weak transcription	HSMMtube	muscle
24	chr11:10374800-10376200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:10374800-10376400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:10374800-10376800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:10375400-10376200	Enhancers	Lung	lung
28	chr11:10375400-10376400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:10375400-10376400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:10375400-10376400	Enhancers	Psoas Muscle	Psoas
31	chr11:10375400-10376600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:10375600-10376200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:10375600-10376400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:10375600-10378200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:10375800-10376200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr11:10375800-10376200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:10375800-10376200	Enhancers	Ovary	ovary
38	chr11:10375800-10376600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr11:10375800-10377200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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