Variant report

Variant	rs1607251
Chromosome Location	chr12:43195140-43195141
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10506219	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11181672	0.82[EUR][1000 genomes]
rs11181674	0.82[EUR][1000 genomes]
rs11181675	0.81[EUR][1000 genomes]
rs11181676	0.83[EUR][1000 genomes]
rs11181677	0.83[EUR][1000 genomes]
rs11833302	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12311080	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12313884	0.82[EUR][1000 genomes]
rs12319782	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1356422	0.81[EUR][1000 genomes]
rs2468330	0.99[ASN][1000 genomes]
rs2678142	0.83[AFR][1000 genomes]
rs2897590	0.83[EUR][1000 genomes]
rs57284063	0.82[EUR][1000 genomes]
rs61924560	0.81[EUR][1000 genomes]
rs7137412	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7953873	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963631	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7977054	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs868765	0.82[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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv558749	chr12:43180190-43275097	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43189200-43196200	Weak transcription	NHDF-Ad	bronchial
2	chr12:43193200-43196800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:43193400-43195800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:43193400-43196200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:43193400-43196600	Weak transcription	HSMM	muscle
6	chr12:43193400-43196600	Weak transcription	HSMMtube	muscle
7	chr12:43193400-43196800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:43193400-43196800	Weak transcription	Osteobl	bone
9	chr12:43193400-43203000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:43193600-43195600	Weak transcription	Fetal Heart	heart
11	chr12:43193600-43196200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:43194600-43196000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:43194600-43197400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:43194800-43195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:43194800-43196800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:43194800-43197000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:43194800-43197200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:43194800-43197400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:43195000-43195400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:43195000-43197400	Enhancers	H9 Cell Line	embryonic stem cell

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