Variant report

Variant	rs17009854
Chromosome Location	chr12:83084740-83084741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10506878	1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11115342	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11115348	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11115353	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11115355	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs11609532	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11609597	0.84[ASN][1000 genomes]
rs11610988	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11611431	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11613168	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11614435	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11615763	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11615765	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12305736	0.95[EUR][1000 genomes]
rs12307168	0.95[EUR][1000 genomes]
rs12422405	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12423043	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12426166	0.90[EUR][1000 genomes]
rs13377925	0.90[EUR][1000 genomes]
rs17009812	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17009851	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17009856	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17009882	1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17009885	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17009891	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17009893	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17009899	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1922576	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1922579	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4620789	0.80[EUR][1000 genomes]
rs4882428	0.94[EUR][1000 genomes]
rs55657485	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56298822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56396658	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61485473	0.95[EUR][1000 genomes]
rs7134747	0.88[EUR][1000 genomes]
rs7134766	0.87[EUR][1000 genomes]
rs7135486	0.82[EUR][1000 genomes]
rs72615654	0.90[EUR][1000 genomes]
rs7294890	0.90[EUR][1000 genomes]
rs7313778	0.82[EUR][1000 genomes]
rs73354481	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74106267	0.95[EUR][1000 genomes]
rs7961953	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7975647	1.00[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS 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	12 gene(s)	inside rSNPs	diseases
6	nsv899349	chr12:82931646-83114286	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv3348300	chr12:83079532-83086951	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83082200-83089200	Weak transcription	Esophagus	oesophagus
2	chr12:83082200-83102200	Weak transcription	Lung	lung
3	chr12:83082400-83086800	Weak transcription	Adipose Nuclei	Adipose
4	chr12:83082400-83089000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:83082600-83086400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:83082600-83087200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:83082600-83088600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:83082600-83088800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:83082600-83094600	Weak transcription	Left Ventricle	heart
10	chr12:83082800-83085800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:83082800-83088200	Weak transcription	HMEC	breast
12	chr12:83082800-83089400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:83082800-83095200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:83082800-83099400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:83082800-83102000	Weak transcription	NHDF-Ad	bronchial
16	chr12:83082800-83102200	Weak transcription	Pancreas	Pancrea
17	chr12:83083000-83085800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:83083000-83086000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:83083000-83086200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:83083000-83089200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:83083000-83089400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:83083000-83089400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:83083000-83092400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:83083600-83086600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:83083600-83101800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:83083800-83084800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:83083800-83084800	Genic enhancers	Monocytes-CD14+_RO01746	blood
28	chr12:83083800-83088200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:83084000-83084800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:83084000-83086400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:83084000-83087000	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:83084000-83092000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:83084000-83101400	Weak transcription	Fetal Kidney	kidney
34	chr12:83084200-83084800	Enhancers	Rectal Smooth Muscle	rectum
35	chr12:83084200-83085200	Enhancers	Brain Cingulate Gyrus	brain
36	chr12:83084200-83085600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:83084200-83085600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:83084200-83085800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:83084200-83085800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:83084200-83085800	Weak transcription	Brain Anterior Caudate	brain
41	chr12:83084200-83085800	Weak transcription	Fetal Brain Female	brain
42	chr12:83084200-83086000	Enhancers	Brain Angular Gyrus	brain
43	chr12:83084200-83086200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:83084200-83086800	Enhancers	Brain Germinal Matrix	brain
45	chr12:83084400-83084800	Genic enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:83084400-83084800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr12:83084400-83087200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:83084600-83084800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:83084600-83084800	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr12:83084600-83084800	Flanking Active TSS	Colon Smooth Muscle	Colon

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