Variant report

Variant	rs11870717
Chromosome Location	chr17:53543838-53543839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11656380	0.96[ASN][1000 genomes]
rs12150374	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12325730	0.99[ASN][1000 genomes]
rs12451745	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12940911	0.97[ASN][1000 genomes]
rs12942292	0.98[ASN][1000 genomes]
rs12943574	0.97[ASN][1000 genomes]
rs12944990	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12950992	0.93[ASN][1000 genomes]
rs17819194	0.93[ASN][1000 genomes]
rs17819212	0.93[ASN][1000 genomes]
rs2009227	0.83[EUR][1000 genomes]
rs35686442	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4432304	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4794592	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55794935	0.93[ASN][1000 genomes]
rs7220600	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225691	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9303370	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9890254	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9890288	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9899752	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9903218	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9908571	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9910434	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9914970	0.84[CEU][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	nsv2100	chr17:53492380-54328516	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1062337	chr17:53510996-54161442	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:53530400-53544000	Weak transcription	Fetal Kidney	kidney
2	chr17:53542400-53545200	Enhancers	Duodenum Mucosa	Duodenum
3	chr17:53542600-53544200	Enhancers	GM12878-XiMat	blood
4	chr17:53543000-53544200	Enhancers	Left Ventricle	heart
5	chr17:53543000-53544600	Enhancers	Adipose Nuclei	Adipose
6	chr17:53543200-53544400	Enhancers	Placenta	Placenta
7	chr17:53543600-53544600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr17:53543600-53545200	Enhancers	Fetal Intestine Large	intestine
9	chr17:53543800-53544000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr17:53543800-53544000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr17:53543800-53544000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr17:53543800-53544000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:53543800-53544200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr17:53543800-53544400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr17:53543800-53544400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr17:53543800-53544400	Active TSS	Brain Substantia Nigra	brain
17	chr17:53543800-53544400	Enhancers	Spleen	Spleen
18	chr17:53543800-53544600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:53543800-53544600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr17:53543800-53544600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr17:53543800-53544600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr17:53543800-53544600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr17:53543800-53544600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:53543800-53544600	Enhancers	HepG2	liver

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