Variant report

Variant	rs12710326
Chromosome Location	chr20:23122081-23122082
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1884658	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4813480	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4815176	0.88[CEU][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6048561	0.88[CEU][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6083009	0.82[CHB][hapmap]
rs6083010	0.82[CHB][hapmap]
rs6083016	0.82[ASN][1000 genomes]
rs6083017	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6113957	0.80[ASN][1000 genomes]
rs6113960	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6137840	0.82[CHB][hapmap]
rs6515304	0.84[ASN][1000 genomes]
rs7269464	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs755697	0.88[CEU][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs844903	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs844904	0.80[CEU][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs844905	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs946371	0.91[CHB][hapmap];0.86[ASN][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	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12710326	RIN2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23114600-23122800	Weak transcription	Right Atrium	heart
2	chr20:23115800-23122600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr20:23117800-23122200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr20:23117800-23122800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:23118200-23123000	Weak transcription	Hela-S3	cervix
6	chr20:23118400-23131000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:23118800-23123000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr20:23119800-23128600	Weak transcription	Gastric	stomach
9	chr20:23120200-23137600	Enhancers	HUVEC	blood vessel
10	chr20:23120400-23122200	Weak transcription	Fetal Thymus	thymus
11	chr20:23120400-23122600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:23120400-23123200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr20:23120400-23123600	Enhancers	K562	blood
14	chr20:23120600-23122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:23120600-23122600	Weak transcription	HMEC	breast
16	chr20:23120600-23123000	Enhancers	Dnd41	blood
17	chr20:23120600-23123400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:23120600-23123400	Weak transcription	Fetal Lung	lung
19	chr20:23121000-23128000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr20:23121000-23144200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr20:23121200-23128800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr20:23121200-23128800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr20:23121200-23130800	Enhancers	HSMM	muscle
24	chr20:23121600-23122200	Enhancers	NHLF	lung
25	chr20:23121600-23122800	Weak transcription	Osteobl	bone
26	chr20:23121600-23123600	Enhancers	Fetal Muscle Trunk	muscle
27	chr20:23121600-23123600	Enhancers	Fetal Muscle Leg	muscle
28	chr20:23121600-23124000	Enhancers	HSMMtube	muscle
29	chr20:23121600-23127000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr20:23121600-23130800	Enhancers	NH-A	brain
31	chr20:23121600-23138200	Enhancers	Adipose Nuclei	Adipose
32	chr20:23121800-23122200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr20:23121800-23123400	Enhancers	Placenta	Placenta
34	chr20:23121800-23123400	Enhancers	Lung	lung
35	chr20:23121800-23123400	Enhancers	Right Ventricle	heart
36	chr20:23121800-23123600	Enhancers	Esophagus	oesophagus
37	chr20:23121800-23123600	Enhancers	Left Ventricle	heart
38	chr20:23121800-23123600	Enhancers	Ovary	ovary
39	chr20:23121800-23123600	Enhancers	Psoas Muscle	Psoas
40	chr20:23121800-23124200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr20:23121800-23124200	Enhancers	Spleen	Spleen
42	chr20:23121800-23125800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr20:23121800-23137600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr20:23121800-23143000	Enhancers	NHDF-Ad	bronchial
45	chr20:23122000-23122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr20:23122000-23123000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr20:23122000-23123000	Enhancers	NHEK	skin
48	chr20:23122000-23124200	Enhancers	GM12878-XiMat	blood
49	chr20:23122000-23125800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr20:23122000-23126400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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