Variant report

Variant	rs6490118
Chromosome Location	chr12:117626345-117626346
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11068383	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11068398	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11068408	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11068410	0.82[ASN][1000 genomes]
rs11831689	0.91[ASN][1000 genomes]
rs12231821	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3741467	0.89[ASN][1000 genomes]
rs3741468	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4767517	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67666823	0.86[EUR][1000 genomes]
rs73206042	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73206082	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73206083	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3409292	chr12:117613281-117638743	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
3	nsv510592	chr12:117618872-117684713	Bivalent/Poised TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	nsv560346	chr12:117623651-117642113	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv560347	chr12:117623651-117643067	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:117590200-117626800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:117613400-117627400	Weak transcription	Small Intestine	intestine
4	chr12:117613600-117626400	Weak transcription	NHLF	lung
5	chr12:117613600-117626800	Weak transcription	Right Ventricle	heart
6	chr12:117614000-117626800	Weak transcription	Colonic Mucosa	Colon
7	chr12:117614200-117626600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:117615000-117626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:117616400-117626800	Weak transcription	Psoas Muscle	Psoas
10	chr12:117616400-117627000	Weak transcription	Right Atrium	heart
11	chr12:117619400-117626400	Weak transcription	Fetal Heart	heart
12	chr12:117619800-117626400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:117620400-117626400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:117620400-117626600	Weak transcription	Pancreas	Pancrea
15	chr12:117620400-117626800	Weak transcription	Gastric	stomach
16	chr12:117620800-117626600	Weak transcription	Spleen	Spleen
17	chr12:117621000-117626600	Weak transcription	Stomach Mucosa	stomach
18	chr12:117621400-117626800	Weak transcription	Aorta	Aorta
19	chr12:117621600-117626600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:117622400-117626400	Weak transcription	NHEK	skin
21	chr12:117622400-117626800	Weak transcription	NHDF-Ad	bronchial
22	chr12:117622600-117626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:117622600-117626600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:117622600-117626600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:117622600-117627000	Weak transcription	Thymus	Thymus
26	chr12:117622800-117626600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:117622800-117626600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:117622800-117626600	Weak transcription	Left Ventricle	heart
29	chr12:117622800-117626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:117622800-117627000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:117623000-117626400	Weak transcription	Primary T cells from cord blood	blood
32	chr12:117623200-117626600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:117623200-117627000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:117623400-117626400	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:117623400-117626600	Weak transcription	HSMM	muscle
36	chr12:117623400-117626800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:117623400-117626800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:117623400-117626800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:117623400-117626800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:117623600-117626600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:117623600-117626600	Weak transcription	HMEC	breast
42	chr12:117623600-117626600	Weak transcription	HUVEC	blood vessel
43	chr12:117624200-117627000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:117624400-117626600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:117624400-117626600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:117624400-117626600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:117624400-117626600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:117624400-117626600	Weak transcription	Fetal Intestine Large	intestine
49	chr12:117624400-117626600	Weak transcription	Fetal Thymus	thymus
50	chr12:117624400-117626600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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