Variant report

Variant	rs4366521
Chromosome Location	chr12:118871516-118871517
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1013641	0.93[EUR][1000 genomes]
rs1503770	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17625679	0.84[EUR][1000 genomes]
rs1971322	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2062522	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34365267	0.93[EUR][1000 genomes]
rs404566	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs418941	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs4304821	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs484838	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs492939	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs503548	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs523011	0.91[CHB][hapmap]
rs55957752	0.89[EUR][1000 genomes]
rs571113	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs575121	0.96[CHB][hapmap];0.88[JPT][hapmap]
rs58833755	0.93[EUR][1000 genomes]
rs60840022	0.84[EUR][1000 genomes]
rs7136004	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7316527	0.85[EUR][1000 genomes]
rs7795	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7952833	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966814	0.93[EUR][1000 genomes]
rs7970613	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974630	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980279	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955134	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118854600-118874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:118854800-118874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:118855200-118874200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:118857000-118874400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:118870600-118871600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:118870600-118871800	Enhancers	Duodenum Mucosa	Duodenum
7	chr12:118870800-118871600	Enhancers	HepG2	liver
8	chr12:118870800-118871800	Enhancers	Fetal Intestine Large	intestine
9	chr12:118871000-118871800	Enhancers	Gastric	stomach
10	chr12:118871000-118871800	Enhancers	Lung	lung
11	chr12:118871200-118871800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr12:118871200-118874000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:118871200-118881800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:118871400-118871800	Enhancers	Fetal Intestine Small	intestine
15	chr12:118871400-118874000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:118871400-118874000	Weak transcription	NHDF-Ad	bronchial
17	chr12:118871400-118874200	Weak transcription	HSMMtube	muscle

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