Variant report

Variant	rs12350714
Chromosome Location	chr9:117614206-117614207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10119267	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10120258	0.81[EUR][1000 genomes]
rs10122059	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10217710	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10982428	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10982430	0.93[EUR][1000 genomes]
rs10982432	0.93[EUR][1000 genomes]
rs10982437	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12336017	0.84[AMR][1000 genomes]
rs12336469	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339917	0.81[EUR][1000 genomes]
rs12340283	0.84[AMR][1000 genomes]
rs12342663	0.93[EUR][1000 genomes]
rs12342775	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12347755	0.89[AMR][1000 genomes]
rs12349613	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs12350663	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12350737	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28464595	0.93[EUR][1000 genomes]
rs56361207	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59758748	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6478114	0.89[AMR][1000 genomes]
rs7030310	0.89[AMR][1000 genomes]
rs7035053	0.89[AMR][1000 genomes]
rs7037415	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7037755	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs727844	0.81[EUR][1000 genomes]
rs963625	0.84[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831695	chr9:117567626-117726247	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117602200-117615400	Weak transcription	Pancreas	Pancrea
2	chr9:117611200-117615000	Enhancers	NHDF-Ad	bronchial
3	chr9:117611600-117618800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:117611800-117614800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:117611800-117615800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:117612000-117614600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:117612000-117615600	Enhancers	Osteobl	bone
8	chr9:117612400-117614600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr9:117612400-117615000	Enhancers	Adipose Nuclei	Adipose
10	chr9:117612400-117615600	Enhancers	NHLF	lung
11	chr9:117613000-117614600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr9:117613000-117616600	Enhancers	Stomach Mucosa	stomach
13	chr9:117613200-117614400	Enhancers	Dnd41	blood
14	chr9:117613200-117615000	Enhancers	Fetal Stomach	stomach
15	chr9:117613200-117615800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr9:117613400-117614400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:117613400-117614600	Enhancers	Small Intestine	intestine
18	chr9:117613400-117615000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:117613400-117615000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:117613400-117615600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:117613400-117615600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr9:117613400-117617000	Enhancers	Fetal Intestine Large	intestine
23	chr9:117613400-117622600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:117613600-117615000	Enhancers	Hela-S3	cervix
25	chr9:117613600-117615600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:117613600-117615600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:117613600-117616800	Weak transcription	HUVEC	blood vessel
28	chr9:117613800-117614600	Enhancers	Primary hematopoietic stem cells	blood
29	chr9:117613800-117614800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr9:117613800-117615000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr9:117614000-117614400	Weak transcription	HSMM	muscle
32	chr9:117614000-117614400	Weak transcription	HSMMtube	muscle
33	chr9:117614000-117615000	Enhancers	Colon Smooth Muscle	Colon
34	chr9:117614000-117615400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr9:117614000-117615800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr9:117614000-117616800	Weak transcription	Gastric	stomach
37	chr9:117614200-117614400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:117614200-117614400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr9:117614200-117614600	Flanking Active TSS	Fetal Lung	lung
40	chr9:117614200-117616600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr9:117614200-117617000	Enhancers	Duodenum Mucosa	Duodenum
42	chr9:117614200-117617400	Enhancers	Fetal Intestine Small	intestine

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