Variant report

Variant	rs12084434
Chromosome Location	chr1:85619920-85619921
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1037745	0.92[ASN][1000 genomes]
rs11161533	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11805650	0.93[ASN][1000 genomes]
rs12021868	0.98[ASN][1000 genomes]
rs12022814	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12028707	0.98[ASN][1000 genomes]
rs12034359	1.00[ASN][1000 genomes]
rs12034501	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12034937	0.98[ASN][1000 genomes]
rs12036276	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs12039804	0.98[ASN][1000 genomes]
rs12040408	0.97[ASN][1000 genomes]
rs12041155	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12043409	0.80[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs12045141	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1674179	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17099217	0.80[CEU][hapmap]
rs17121745	0.80[CEU][hapmap]
rs17121978	0.80[CEU][hapmap]
rs2007508	0.98[ASN][1000 genomes]
rs2068427	0.98[ASN][1000 genomes]
rs2994490	0.98[ASN][1000 genomes]
rs3013111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3209418	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3364	0.98[ASN][1000 genomes]
rs56191061	0.98[ASN][1000 genomes]
rs57516443	0.98[ASN][1000 genomes]
rs57530923	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58068482	0.98[ASN][1000 genomes]
rs58246117	0.98[ASN][1000 genomes]
rs58604582	0.88[ASN][1000 genomes]
rs60875782	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs709785	0.97[ASN][1000 genomes]
rs709787	0.98[ASN][1000 genomes]
rs72482805	0.97[ASN][1000 genomes]
rs7513769	0.97[ASN][1000 genomes]
rs817387	0.93[ASN][1000 genomes]
rs817395	0.94[ASN][1000 genomes]
rs817400	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs817409	0.97[ASN][1000 genomes]
rs817410	1.00[ASN][1000 genomes]
rs817413	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs817414	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs817416	0.98[ASN][1000 genomes]
rs817418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs817419	0.98[ASN][1000 genomes]
rs817420	0.98[ASN][1000 genomes]
rs817421	0.98[ASN][1000 genomes]
rs817424	0.98[ASN][1000 genomes]
rs817426	0.98[ASN][1000 genomes]
rs817427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs817429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs817430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs817431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs817432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs817433	0.98[ASN][1000 genomes]
rs817435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs817437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs817439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs817440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs817441	0.98[ASN][1000 genomes]
rs817452	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85603800-85632200	Weak transcription	Fetal Lung	lung
2	chr1:85608600-85655200	Weak transcription	Aorta	Aorta
3	chr1:85608800-85629200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:85610400-85647800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:85610600-85630600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:85611400-85629600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:85615000-85621800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:85615400-85647600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:85615400-85655200	Weak transcription	Lung	lung
10	chr1:85615600-85654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:85615800-85625200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:85615800-85627200	Weak transcription	Ovary	ovary
13	chr1:85615800-85627600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:85615800-85629400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:85615800-85630600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:85615800-85632800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:85615800-85665800	Weak transcription	Esophagus	oesophagus
18	chr1:85616000-85632200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:85616000-85634600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:85616000-85638800	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:85616400-85627600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:85616400-85635800	Weak transcription	Left Ventricle	heart
23	chr1:85617800-85648000	Weak transcription	Liver	Liver
24	chr1:85619000-85629000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:85619000-85655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:85619200-85647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:85619800-85628000	Weak transcription	Fetal Heart	heart
28	chr1:85619800-85630600	Weak transcription	Fetal Stomach	stomach
29	chr1:85619800-85632600	Weak transcription	Fetal Intestine Large	intestine
30	chr1:85619800-85646800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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