Variant report

Variant	rs6083026
Chromosome Location	chr20:23145255-23145256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2404887	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6076033	1.00[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6076034	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083025	1.00[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6515305	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6515306	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7269765	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1066935	chr20:23123507-23146449	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6083026	RIN2	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23138400-23146400	Enhancers	Placenta	Placenta
2	chr20:23139400-23146600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr20:23139800-23146400	Enhancers	Fetal Muscle Leg	muscle
4	chr20:23139800-23146600	Enhancers	Stomach Mucosa	stomach
5	chr20:23140400-23146400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr20:23140400-23146600	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr20:23140600-23146200	Enhancers	Colonic Mucosa	Colon
8	chr20:23141200-23145400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:23141200-23146200	Enhancers	Fetal Muscle Trunk	muscle
10	chr20:23142200-23146000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr20:23142200-23146400	Enhancers	Fetal Stomach	stomach
12	chr20:23142800-23146800	Enhancers	Fetal Intestine Large	intestine
13	chr20:23142800-23148000	Weak transcription	NH-A	brain
14	chr20:23143000-23148000	Weak transcription	NHDF-Ad	bronchial
15	chr20:23143200-23147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:23143400-23146000	Weak transcription	Fetal Heart	heart
17	chr20:23143400-23146200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr20:23143400-23148000	Weak transcription	NHEK	skin
19	chr20:23143800-23145600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr20:23143800-23146000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:23143800-23146000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr20:23143800-23147400	Weak transcription	Esophagus	oesophagus
23	chr20:23144000-23145400	Weak transcription	Spleen	Spleen
24	chr20:23144000-23148400	Weak transcription	Right Atrium	heart
25	chr20:23144000-23150800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr20:23144000-23151000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr20:23144400-23147000	Enhancers	Fetal Intestine Small	intestine
28	chr20:23144600-23145600	Enhancers	Brain Hippocampus Middle	brain
29	chr20:23144800-23145400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr20:23144800-23145600	Enhancers	Brain Cingulate Gyrus	brain
31	chr20:23144800-23145600	Enhancers	Fetal Lung	lung
32	chr20:23144800-23145600	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr20:23145000-23145400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr20:23145000-23145400	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr20:23145000-23145400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr20:23145000-23145400	Weak transcription	Small Intestine	intestine
37	chr20:23145000-23146400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr20:23145000-23146400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr20:23145200-23145400	Enhancers	Gastric	stomach
40	chr20:23145200-23145400	Enhancers	Stomach Smooth Muscle	stomach
41	chr20:23145200-23150800	Weak transcription	Lung	lung

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