Variant report

Variant	rs11142431
Chromosome Location	chr9:73053196-73053197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:73026198..73029017-chr9:73051067..73053638,2	MCF-7	breast:
2	chr9:73024556..73027368-chr9:73052076..73054803,4	K562	blood:
3	chr9:73033655..73035908-chr9:73052201..73054074,2	MCF-7	breast:
4	chr9:73024556..73027041-chr9:73052787..73054803,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11142345	1.00[AFR][1000 genomes]
rs11142420	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11142434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142441	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142451	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11142452	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11142453	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11142454	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11142462	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11142464	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11142465	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11142467	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes]
rs12236725	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12238429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13291393	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13298975	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1556739	0.83[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs34775197	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3858108	0.83[AFR][1000 genomes]
rs4744598	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4745011	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4745012	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9644995	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[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	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73041600-73053400	Weak transcription	Psoas Muscle	Psoas
2	chr9:73043000-73053200	Weak transcription	Stomach Mucosa	stomach
3	chr9:73048600-73053400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:73049600-73053400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:73050400-73056200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr9:73050600-73054000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:73050800-73053400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr9:73050800-73053400	Weak transcription	Small Intestine	intestine
9	chr9:73051000-73053400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:73051000-73053400	Weak transcription	NHLF	lung
11	chr9:73051000-73056000	Enhancers	HUVEC	blood vessel
12	chr9:73051200-73053200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:73051200-73053200	Weak transcription	A549	lung
14	chr9:73051200-73053200	Weak transcription	Hela-S3	cervix
15	chr9:73051200-73053400	Weak transcription	NH-A	brain
16	chr9:73051400-73053200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:73051400-73053200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:73051400-73053200	Weak transcription	NHEK	skin
19	chr9:73051400-73053400	Weak transcription	HSMM	muscle
20	chr9:73051400-73053400	Weak transcription	NHDF-Ad	bronchial
21	chr9:73051400-73053400	Weak transcription	Osteobl	bone
22	chr9:73051600-73053200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:73051600-73053200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:73051600-73053400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:73052000-73054000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr9:73052200-73053200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr9:73052200-73053200	Weak transcription	K562	blood
28	chr9:73052200-73053400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:73052200-73053400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr9:73052400-73053400	Weak transcription	Esophagus	oesophagus
31	chr9:73052400-73054400	Enhancers	Left Ventricle	heart
32	chr9:73052600-73053400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:73052600-73053400	Enhancers	Colonic Mucosa	Colon
34	chr9:73052600-73054200	Enhancers	Adipose Nuclei	Adipose
35	chr9:73052600-73054200	Enhancers	Lung	lung
36	chr9:73052800-73053400	Weak transcription	Right Atrium	heart
37	chr9:73053000-73053200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr9:73053000-73053600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr9:73053000-73054000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:73053000-73054200	Enhancers	Spleen	Spleen
41	chr9:73053000-73054400	Enhancers	Pancreas	Pancrea
42	chr9:73053000-73054800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr9:73053000-73056000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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