Variant report

Variant	rs12686226
Chromosome Location	chr9:116801167-116801168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1008138	0.95[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs10739398	0.92[CEU][hapmap];0.82[CHB][hapmap];0.89[EUR][1000 genomes]
rs10759669	1.00[YRI][hapmap]
rs10759675	0.89[EUR][1000 genomes]
rs10759676	0.88[CEU][hapmap];0.85[CHB][hapmap];0.91[EUR][1000 genomes]
rs10817552	0.91[EUR][1000 genomes]
rs10817555	0.88[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10817556	0.93[EUR][1000 genomes]
rs10817558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982026	0.86[EUR][1000 genomes]
rs10982029	0.88[CEU][hapmap];0.85[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10982031	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs10982032	0.92[EUR][1000 genomes]
rs10982034	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10982042	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11788633	0.88[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes]
rs11788661	0.88[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes]
rs11788667	0.90[EUR][1000 genomes]
rs11790678	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11791155	1.00[YRI][hapmap]
rs11791230	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs12551686	0.88[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12686727	0.88[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13298270	0.88[CEU][hapmap];0.85[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13299092	0.83[CHB][hapmap]
rs1408115	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1590367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965753	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2078305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116407	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs35841848	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748182	0.91[EUR][1000 genomes]
rs3748183	0.85[CHB][hapmap];0.91[EUR][1000 genomes]
rs3860174	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4978561	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs4978562	0.88[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes]
rs4979317	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs4979318	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs4979319	0.91[CEU][hapmap];0.88[CHB][hapmap];0.89[EUR][1000 genomes]
rs4979320	0.88[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes]
rs4979321	0.85[CHB][hapmap]
rs4979322	0.85[CHB][hapmap];0.91[EUR][1000 genomes]
rs4979326	0.88[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4979327	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4979331	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7030167	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs7035891	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7041360	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs7041524	0.88[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7042021	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs7858120	0.88[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes]
rs942286	0.88[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs942287	0.88[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116766600-116811200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:116773600-116809200	Weak transcription	Fetal Heart	heart
3	chr9:116785200-116811200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:116785400-116810600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:116787000-116803000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:116787000-116812800	Weak transcription	Primary B cells from cord blood	blood
7	chr9:116788000-116802400	Strong transcription	Adipose Nuclei	Adipose
8	chr9:116789600-116808600	Weak transcription	HMEC	breast
9	chr9:116790600-116801400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr9:116790600-116801600	Strong transcription	Spleen	Spleen
11	chr9:116790600-116802600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:116790600-116802600	Strong transcription	Liver	Liver
13	chr9:116792200-116802800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:116792200-116810400	Weak transcription	Thymus	Thymus
15	chr9:116792400-116801600	Strong transcription	HUVEC	blood vessel
16	chr9:116793000-116802600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:116793200-116811200	Weak transcription	Stomach Mucosa	stomach
18	chr9:116793200-116812200	Weak transcription	K562	blood
19	chr9:116793200-116813800	Weak transcription	NHEK	skin
20	chr9:116794000-116802400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:116794200-116801600	Strong transcription	Pancreas	Pancrea
22	chr9:116794600-116801400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:116795000-116801600	Strong transcription	Fetal Intestine Large	intestine
24	chr9:116795200-116802600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:116795200-116821800	Weak transcription	Right Atrium	heart
26	chr9:116795600-116802400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:116795800-116801600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr9:116796000-116802600	Strong transcription	A549	lung
29	chr9:116796000-116802800	Strong transcription	Fetal Lung	lung
30	chr9:116796200-116815800	Weak transcription	Small Intestine	intestine
31	chr9:116796400-116801200	Weak transcription	NHDF-Ad	bronchial
32	chr9:116796800-116802800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:116797200-116802200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr9:116797800-116802600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr9:116798000-116802400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr9:116798000-116802400	Strong transcription	NH-A	brain
37	chr9:116798000-116802600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:116798000-116802600	Strong transcription	Ovary	ovary
39	chr9:116798000-116802800	Strong transcription	Fetal Muscle Leg	muscle
40	chr9:116798400-116802600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:116798400-116802600	Strong transcription	Osteobl	bone
42	chr9:116798800-116801600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:116799000-116801600	Strong transcription	Rectal Smooth Muscle	rectum
44	chr9:116799000-116811200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:116799200-116802200	Strong transcription	Lung	lung
46	chr9:116799200-116811200	Weak transcription	Colon Smooth Muscle	Colon
47	chr9:116799400-116810600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr9:116799400-116810800	Weak transcription	Colonic Mucosa	Colon
49	chr9:116799600-116801800	Strong transcription	Fetal Intestine Small	intestine
50	chr9:116799600-116802000	Weak transcription	HSMM	muscle

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