Variant report

Variant	rs66528219
Chromosome Location	chr4:131001494-131001495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10518560	1.00[EUR][1000 genomes]
rs1395976	0.88[EUR][1000 genomes]
rs28428490	1.00[EUR][1000 genomes]
rs28581332	1.00[EUR][1000 genomes]
rs4864324	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55907609	1.00[EUR][1000 genomes]
rs61464540	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66516628	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66920142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67137307	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67312336	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67499622	0.88[EUR][1000 genomes]
rs67696760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67814075	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67868780	0.88[EUR][1000 genomes]
rs67992570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68036106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68081878	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678114	0.88[EUR][1000 genomes]
rs72678118	1.00[EUR][1000 genomes]
rs72678137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678144	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678151	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72936630	1.00[ASN][1000 genomes]
rs7670930	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461640	chr4:130962263-131003605	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv595413	chr4:130962263-131003605	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1027281	chr4:130962945-131005768	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1027051	chr4:130962945-131010834	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1019114	chr4:130962945-131013140	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1028045	chr4:130965914-131004697	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv595414	chr4:130983055-131024471	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv595415	chr4:130983605-131046911	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv595416	chr4:130998472-131834405	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130995600-131002200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:130995600-131005000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:130995800-131001600	Weak transcription	Fetal Intestine Large	intestine
4	chr4:130996000-131001600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:130996000-131001600	Weak transcription	Stomach Mucosa	stomach
6	chr4:130996200-131001600	Weak transcription	Liver	Liver
7	chr4:130999200-131002000	Weak transcription	NHEK	skin
8	chr4:130999800-131002000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:130999800-131002000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:130999800-131007000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:131000600-131002200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:131001400-131002600	Enhancers	Fetal Intestine Small	intestine

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