Variant report

Variant	rs12035719
Chromosome Location	chr1:171622749-171622750
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10489250	0.83[CEU][hapmap]
rs10913388	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12021915	0.83[CEU][hapmap]
rs12024194	0.83[CEU][hapmap]
rs12035960	0.92[CEU][hapmap];0.89[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12036980	0.83[CEU][hapmap]
rs1490185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236875	0.92[CEU][hapmap];0.89[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2421910	0.83[CEU][hapmap]
rs41263716	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425363	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6665614	0.80[CEU][hapmap]
rs7523603	1.00[CEU][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7527743	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7543786	0.83[CEU][hapmap];0.94[CHB][hapmap]
rs7547721	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv872544	chr1:171616822-171654968	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171614600-171624600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:171615200-171623600	Weak transcription	Right Atrium	heart
3	chr1:171615400-171622800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:171615400-171623000	Weak transcription	HSMM	muscle
5	chr1:171620000-171623400	Enhancers	Fetal Heart	heart
6	chr1:171620400-171627600	Enhancers	Fetal Muscle Leg	muscle
7	chr1:171621000-171624800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:171621000-171625800	Enhancers	Fetal Stomach	stomach
9	chr1:171621400-171623400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:171621400-171623600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:171621400-171624200	Enhancers	Colon Smooth Muscle	Colon
12	chr1:171621400-171624600	Enhancers	Rectal Smooth Muscle	rectum
13	chr1:171621600-171623000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:171621600-171623200	Weak transcription	Adipose Nuclei	Adipose
15	chr1:171621600-171623200	Enhancers	Liver	Liver
16	chr1:171621600-171623600	Weak transcription	Left Ventricle	heart
17	chr1:171621800-171623600	Weak transcription	Colonic Mucosa	Colon
18	chr1:171621800-171623600	Weak transcription	Ovary	ovary
19	chr1:171621800-171624000	Weak transcription	Aorta	Aorta
20	chr1:171621800-171624000	Weak transcription	Lung	lung
21	chr1:171622000-171623600	Weak transcription	Placenta	Placenta
22	chr1:171622200-171623400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:171622200-171625200	Enhancers	Fetal Lung	lung
24	chr1:171622400-171623200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:171622400-171623200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:171622400-171623400	Enhancers	Stomach Smooth Muscle	stomach
27	chr1:171622400-171623600	Weak transcription	Psoas Muscle	Psoas
28	chr1:171622400-171623600	Weak transcription	Right Ventricle	heart
29	chr1:171622600-171623200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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