Variant report

Variant	rs6083014
Chromosome Location	chr20:23112441-23112442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23092796..23095143-chr20:23110138..23112682,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11087414	0.83[CHB][hapmap]
rs11697283	0.87[CHB][hapmap]
rs1884658	0.81[ASN][1000 genomes]
rs4813480	0.80[ASN][1000 genomes]
rs4815176	0.87[CHB][hapmap];0.85[CHD][hapmap];0.80[ASN][1000 genomes]
rs6048561	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs6083009	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs6083010	0.88[CEU][hapmap]
rs6083011	0.87[CHB][hapmap]
rs6083012	0.85[EUR][1000 genomes]
rs6083015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083016	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs6113954	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs6113957	0.91[CHB][hapmap];0.95[CHD][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs6113960	0.83[ASN][1000 genomes]
rs6137840	0.87[CEU][hapmap]
rs6515302	0.87[CHB][hapmap]
rs6515304	0.91[CHB][hapmap];0.88[CHD][hapmap];0.87[ASN][1000 genomes]
rs7269464	0.84[ASN][1000 genomes]
rs755697	0.87[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs8122415	0.83[CHB][hapmap]
rs844904	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs946371	0.81[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6083014	RIN2	cis	parietal	SCAN
rs6083014	CST9L	cis	parietal	SCAN
rs6083014	CST8	cis	parietal	SCAN
rs6083014	CST9	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23102000-23114000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr20:23106600-23112600	Weak transcription	Fetal Intestine Large	intestine
4	chr20:23106800-23114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr20:23106800-23116400	Weak transcription	Esophagus	oesophagus
6	chr20:23107600-23113200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr20:23109000-23120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr20:23110000-23112800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr20:23110200-23112600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr20:23110400-23112800	Weak transcription	Fetal Intestine Small	intestine
11	chr20:23110400-23113400	Weak transcription	Ovary	ovary
12	chr20:23110400-23113600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:23110400-23121600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr20:23110600-23113800	Weak transcription	Fetal Heart	heart
15	chr20:23110800-23112600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr20:23111000-23112600	Weak transcription	Fetal Muscle Leg	muscle
17	chr20:23111000-23112600	Weak transcription	Spleen	Spleen
18	chr20:23111000-23120400	Weak transcription	Pancreas	Pancrea
19	chr20:23111200-23112800	Weak transcription	Left Ventricle	heart
20	chr20:23111200-23112800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr20:23111200-23113000	Weak transcription	Psoas Muscle	Psoas
22	chr20:23111400-23112600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr20:23111400-23112800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr20:23111600-23112600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr20:23111600-23113000	Weak transcription	Fetal Stomach	stomach
26	chr20:23111600-23113200	Weak transcription	Fetal Lung	lung
27	chr20:23111800-23114000	Enhancers	Lung	lung
28	chr20:23111800-23114600	Flanking Active TSS	K562	blood
29	chr20:23112000-23113200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr20:23112000-23114800	Enhancers	Fetal Muscle Trunk	muscle
31	chr20:23112200-23112600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr20:23112200-23112600	Weak transcription	Right Ventricle	heart
33	chr20:23112400-23112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr20:23112400-23114200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr20:23112400-23114600	Enhancers	Adipose Nuclei	Adipose
36	chr20:23112400-23114600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr20:23112400-23114600	Enhancers	Right Atrium	heart
38	chr20:23112400-23114800	Enhancers	Dnd41	blood
39	chr20:23112400-23114800	Enhancers	HUVEC	blood vessel

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