Variant report

Variant	rs12719254
Chromosome Location	chr5:118537292-118537293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11241484	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959739	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4243445	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4576176	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588617	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895361	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595175	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595177	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6860432	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896024	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327090	0.81[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	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1034616	chr5:118506348-118600391	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1031914	chr5:118516878-118589497	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118483000-118541400	Weak transcription	NHEK	skin
2	chr5:118485800-118572200	Weak transcription	Small Intestine	intestine
3	chr5:118486000-118588600	Weak transcription	Right Ventricle	heart
4	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
5	chr5:118498000-118584200	Weak transcription	Spleen	Spleen
6	chr5:118503800-118585800	Weak transcription	NH-A	brain
7	chr5:118505400-118554600	Weak transcription	HepG2	liver
8	chr5:118507800-118580200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:118514400-118589000	Weak transcription	Pancreas	Pancrea
10	chr5:118514400-118591400	Weak transcription	Esophagus	oesophagus
11	chr5:118514600-118554800	Weak transcription	NHDF-Ad	bronchial
12	chr5:118516000-118544000	Weak transcription	Hela-S3	cervix
13	chr5:118516200-118538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:118516200-118554800	Weak transcription	Osteobl	bone
15	chr5:118521200-118571000	Weak transcription	HMEC	breast
16	chr5:118524200-118570800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:118524400-118571000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr5:118524600-118537400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:118524600-118561200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:118524600-118584200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:118525400-118541000	Strong transcription	Liver	Liver
22	chr5:118527600-118537400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:118527800-118549000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:118532200-118540800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr5:118532800-118540600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:118533200-118537600	Strong transcription	Primary T cells from cord blood	blood
27	chr5:118533200-118538200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr5:118534200-118538200	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr5:118534600-118538000	Weak transcription	HSMM	muscle
30	chr5:118534600-118574200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:118534800-118542000	Weak transcription	A549	lung
32	chr5:118535000-118537400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:118535000-118538000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:118535000-118538200	Weak transcription	Fetal Intestine Small	intestine
35	chr5:118535000-118538200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:118535000-118538800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:118535000-118539600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:118535000-118539600	Weak transcription	Fetal Stomach	stomach
39	chr5:118535000-118539800	Weak transcription	Left Ventricle	heart
40	chr5:118535000-118544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:118535000-118554600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:118535000-118560800	Weak transcription	Gastric	stomach
43	chr5:118535000-118579600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:118535000-118584800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:118535000-118587400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:118535000-118588200	Weak transcription	Lung	lung
47	chr5:118535000-118589000	Weak transcription	Aorta	Aorta
48	chr5:118535200-118537600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr5:118535200-118538800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:118535200-118539800	Weak transcription	Rectal Smooth Muscle	rectum

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