Variant report

Variant	rs12717173
Chromosome Location	chr6:117808275-117808276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12183926	1.00[AMR][1000 genomes]
rs41444649	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41482448	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41528247	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6933025	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6940610	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552914	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7744450	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489214	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489216	1.00[AMR][1000 genomes]
rs9688613	1.00[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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117805000-117810200	Weak transcription	Gastric	stomach
2	chr6:117805200-117808400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:117805200-117814800	Weak transcription	Left Ventricle	heart
4	chr6:117805200-117816000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:117805200-117819400	Weak transcription	Small Intestine	intestine
6	chr6:117805200-117825600	Weak transcription	Lung	lung
7	chr6:117805200-117826600	Weak transcription	Esophagus	oesophagus
8	chr6:117805200-117851200	Weak transcription	Right Ventricle	heart
9	chr6:117805400-117819400	Weak transcription	Aorta	Aorta
10	chr6:117805600-117814800	Weak transcription	K562	blood
11	chr6:117805600-117818800	Weak transcription	Fetal Kidney	kidney
12	chr6:117805600-117819400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:117805800-117825600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:117805800-117826200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:117806200-117815000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:117806200-117815400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:117806200-117816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:117806200-117819600	Weak transcription	Psoas Muscle	Psoas
19	chr6:117806200-117826400	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:117806200-117826600	Weak transcription	Pancreas	Pancrea
21	chr6:117806600-117817400	Weak transcription	HSMMtube	muscle
22	chr6:117806800-117815600	Weak transcription	Stomach Mucosa	stomach
23	chr6:117807000-117808400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:117807000-117814800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:117807000-117815200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:117807200-117810800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:117807400-117808400	Weak transcription	NHDF-Ad	bronchial
28	chr6:117807600-117808600	ZNF genes & repeats	A549	lung
29	chr6:117807600-117808600	ZNF genes & repeats	HMEC	breast
30	chr6:117807600-117808800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:117807600-117808800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:117807600-117808800	Genic enhancers	HepG2	liver
33	chr6:117807600-117814000	Weak transcription	Liver	Liver
34	chr6:117807800-117808600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:117807800-117808600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:117807800-117808600	Strong transcription	Fetal Intestine Large	intestine
37	chr6:117807800-117808600	Genic enhancers	Fetal Stomach	stomach
38	chr6:117807800-117808600	ZNF genes & repeats	NHEK	skin
39	chr6:117807800-117808800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:117807800-117809400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:117807800-117809400	ZNF genes & repeats	HSMM	muscle
42	chr6:117807800-117809400	Strong transcription	Osteobl	bone
43	chr6:117807800-117813400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:117808000-117808400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:117808000-117808600	Strong transcription	Fetal Lung	lung
46	chr6:117808000-117808600	Strong transcription	HUVEC	blood vessel
47	chr6:117808000-117809200	Weak transcription	NHLF	lung
48	chr6:117808000-117810600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:117808000-117810600	Strong transcription	NH-A	brain
50	chr6:117808200-117808800	Strong transcription	Muscle Satellite Cultured Cells	--

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