Variant report

Variant	rs12267781
Chromosome Location	chr10:53947588-53947589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10128363	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10128399	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10762628	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10824217	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10824222	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10824223	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10824227	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11001097	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11001098	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11001100	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11001164	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11001190	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1210449	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12355173	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12358626	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12359674	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12573827	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1910532	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1910544	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1910545	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1910548	0.81[AFR][1000 genomes]
rs1910549	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1910550	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2134762	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2339952	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59013085	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59549474	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61277906	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67024255	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7067880	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7068267	0.93[EUR][1000 genomes]
rs7087753	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7089983	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7091337	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72787305	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7476725	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7898960	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7900521	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7904720	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7905525	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7921595	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2750961	chr10:53726294-54010594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv467199	chr10:53864402-53948854	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv550876	chr10:53864402-53948854	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
6	nsv895399	chr10:53900872-54219820	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53881000-53971800	Weak transcription	Aorta	Aorta
2	chr10:53941000-53950200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:53941200-53950400	Weak transcription	Fetal Stomach	stomach
4	chr10:53943400-53950800	Weak transcription	Pancreas	Pancrea
5	chr10:53943800-53957200	Weak transcription	Psoas Muscle	Psoas
6	chr10:53946800-53947800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr10:53946800-53948000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr10:53947000-53947800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr10:53947000-53947800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr10:53947000-53947800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr10:53947000-53947800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:53947200-53947800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:53947200-53947800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:53947200-53947800	Enhancers	HSMMtube	muscle
15	chr10:53947400-53947600	Enhancers	HSMM	muscle
16	chr10:53947400-53947800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr10:53947400-53947800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:53947400-53947800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr10:53947400-53947800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr10:53947400-53947800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr10:53947400-53947800	Enhancers	NHDF-Ad	bronchial
22	chr10:53947400-53947800	Enhancers	Osteobl	bone
23	chr10:53947400-53948000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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