Variant report

Variant	rs11142462
Chromosome Location	chr9:73084410-73084411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:73032980..73036706-chr9:73081147..73085681,5	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11142345	1.00[AFR][1000 genomes]
rs11142420	0.81[EUR][1000 genomes]
rs11142431	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11142434	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11142435	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11142441	0.87[EUR][1000 genomes]
rs11142443	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11142451	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11142452	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11142453	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11142454	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11142464	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11142465	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11142467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12238429	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13291393	0.83[EUR][1000 genomes]
rs13298975	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1556739	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34775197	0.81[EUR][1000 genomes]
rs4744598	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4745011	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4745012	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9644995	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv428219	chr9:73006269-73192535	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv831616	chr9:73077855-73220928	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73072400-73084800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:73077600-73087800	Weak transcription	Gastric	stomach
3	chr9:73080400-73086200	Enhancers	Left Ventricle	heart
4	chr9:73080400-73086400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr9:73080600-73085600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:73080800-73085200	Weak transcription	Colon Smooth Muscle	Colon
7	chr9:73081600-73086400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr9:73082400-73084800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:73082400-73085000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:73082400-73085000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:73082400-73085000	Weak transcription	NHLF	lung
12	chr9:73082400-73086000	Enhancers	Right Atrium	heart
13	chr9:73082600-73084800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:73082600-73085000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:73082600-73085000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr9:73082600-73086400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:73082600-73087600	Weak transcription	Esophagus	oesophagus
18	chr9:73082600-73091600	Weak transcription	HSMMtube	muscle
19	chr9:73082600-73092000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:73082800-73084800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr9:73082800-73084800	Weak transcription	Small Intestine	intestine
22	chr9:73082800-73084800	Weak transcription	NHDF-Ad	bronchial
23	chr9:73082800-73085200	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:73082800-73087200	Weak transcription	HSMM	muscle
25	chr9:73082800-73087200	Weak transcription	Osteobl	bone
26	chr9:73083200-73085000	Weak transcription	Lung	lung
27	chr9:73083200-73085000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr9:73083200-73087200	Weak transcription	Right Ventricle	heart
29	chr9:73083400-73085200	Weak transcription	Brain Angular Gyrus	brain
30	chr9:73083400-73086400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr9:73083400-73086400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr9:73083600-73084800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:73083600-73084800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:73083600-73084800	Weak transcription	Brain Anterior Caudate	brain
35	chr9:73083600-73086000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr9:73083600-73086000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr9:73083600-73086200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:73083600-73090800	Enhancers	Liver	Liver
39	chr9:73083800-73084800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr9:73083800-73084800	Weak transcription	Fetal Heart	heart
41	chr9:73084000-73086000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr9:73084000-73086000	Enhancers	Pancreas	Pancrea
43	chr9:73084200-73085000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:73084200-73085000	Enhancers	Stomach Mucosa	stomach
45	chr9:73084200-73085000	Enhancers	HepG2	liver
46	chr9:73084200-73085400	Enhancers	Adipose Nuclei	Adipose
47	chr9:73084200-73085400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr9:73084200-73085600	Enhancers	Spleen	Spleen
49	chr9:73084200-73086000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr9:73084200-73086000	Enhancers	Psoas Muscle	Psoas

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