Variant report

Variant	rs6083017
Chromosome Location	chr20:23119766-23119767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23118399..23120070-chr20:23194875..23197659,2	K562	blood:

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

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

rs_ID	r²[population]
rs12710326	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1884658	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4813480	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4815176	0.88[CEU][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048561	0.88[CEU][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6083009	0.82[CHB][hapmap]
rs6083010	0.82[CHB][hapmap]
rs6083016	0.80[ASN][1000 genomes]
rs6113957	0.81[CHD][hapmap]
rs6113960	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137840	0.82[CHB][hapmap]
rs6515304	0.83[ASN][1000 genomes]
rs7269464	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs755697	0.88[CEU][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs844903	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs844904	0.80[CEU][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap]
rs844905	0.86[ASN][1000 genomes]
rs946371	0.91[CHB][hapmap];0.85[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
rs6083017	RIN2	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23109000-23120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:23110400-23121600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr20:23111000-23120400	Weak transcription	Pancreas	Pancrea
4	chr20:23112600-23120600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr20:23114200-23120200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:23114200-23121800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr20:23114600-23120400	Weak transcription	Fetal Lung	lung
8	chr20:23114600-23121800	Weak transcription	Right Ventricle	heart
9	chr20:23114600-23122800	Weak transcription	Right Atrium	heart
10	chr20:23115800-23122600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr20:23116400-23120000	Enhancers	Esophagus	oesophagus
12	chr20:23116400-23120600	Enhancers	Psoas Muscle	Psoas
13	chr20:23116800-23120600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:23116800-23120600	Enhancers	NHEK	skin
15	chr20:23117000-23120000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:23117000-23121600	Weak transcription	Adipose Nuclei	Adipose
17	chr20:23117000-23121800	Weak transcription	NHDF-Ad	bronchial
18	chr20:23117200-23120200	Weak transcription	HUVEC	blood vessel
19	chr20:23117800-23122200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr20:23117800-23122800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr20:23118000-23122000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr20:23118200-23119800	Enhancers	K562	blood
23	chr20:23118200-23120200	Weak transcription	Left Ventricle	heart
24	chr20:23118200-23120200	Weak transcription	Lung	lung
25	chr20:23118200-23120600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr20:23118200-23121600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr20:23118200-23123000	Weak transcription	Hela-S3	cervix
28	chr20:23118400-23121200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr20:23118400-23121600	Weak transcription	HSMMtube	muscle
30	chr20:23118400-23131000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr20:23118800-23120200	Weak transcription	Placenta	Placenta
32	chr20:23118800-23120200	Weak transcription	GM12878-XiMat	blood
33	chr20:23118800-23123000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr20:23119000-23119800	Enhancers	Fetal Thymus	thymus
35	chr20:23119200-23121600	Weak transcription	Fetal Muscle Leg	muscle
36	chr20:23119400-23119800	Weak transcription	HSMM	muscle
37	chr20:23119400-23120400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr20:23119600-23119800	Enhancers	Gastric	stomach
39	chr20:23119600-23120400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr20:23119600-23120600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr20:23119600-23120600	Flanking Active TSS	Dnd41	blood
42	chr20:23119600-23120600	Enhancers	HMEC	breast
43	chr20:23119600-23121800	Weak transcription	Spleen	Spleen

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