Variant report

Variant	rs361249
Chromosome Location	chr3:136707507-136707508
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136579408..136582158-chr3:136706601..136709165,2	MCF-7	breast:
2	chr3:136707042..136709272-chr3:136713786..136715462,2	K562	blood:

Variant related genes	Relation type
ENSG00000158092	Chromatin interaction
ENSG00000239213	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs108858	0.87[ASN][1000 genomes]
rs11711599	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12054220	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13095034	0.87[ASN][1000 genomes]
rs1385306	0.82[ASN][1000 genomes]
rs1620455	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1654900	0.82[ASN][1000 genomes]
rs1654901	0.82[ASN][1000 genomes]
rs1654924	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1682339	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1682361	0.82[ASN][1000 genomes]
rs1682362	0.82[ASN][1000 genomes]
rs1682363	0.82[ASN][1000 genomes]
rs1682364	0.82[ASN][1000 genomes]
rs1682365	0.82[ASN][1000 genomes]
rs1682366	0.82[ASN][1000 genomes]
rs171519	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181732	0.82[ASN][1000 genomes]
rs183120	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183121	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2117008	0.83[ASN][1000 genomes]
rs2344092	0.84[ASN][1000 genomes]
rs361227	0.82[ASN][1000 genomes]
rs361228	0.82[ASN][1000 genomes]
rs361229	0.82[ASN][1000 genomes]
rs361232	0.84[ASN][1000 genomes]
rs361233	0.87[ASN][1000 genomes]
rs361234	0.85[ASN][1000 genomes]
rs361235	0.87[ASN][1000 genomes]
rs361238	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361240	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361253	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781515	0.82[ASN][1000 genomes]
rs71620537	0.87[ASN][1000 genomes]
rs835627	0.82[ASN][1000 genomes]
rs835629	0.82[ASN][1000 genomes]
rs835630	0.82[ASN][1000 genomes]
rs835631	0.82[ASN][1000 genomes]
rs835638	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs835652	0.87[ASN][1000 genomes]
rs9681468	0.81[ASN][1000 genomes]
rs9845076	0.90[ASN][1000 genomes]
rs9850024	0.82[ASN][1000 genomes]
rs9854795	0.82[ASN][1000 genomes]
rs9874615	0.82[ASN][1000 genomes]
rs9875855	0.87[ASN][1000 genomes]
rs999038	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877534	chr3:136676303-136765859	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv524856	chr3:136693459-137190765	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1012111	chr3:136695367-137343430	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs361249	IL20RB	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136703800-136708400	Weak transcription	Colonic Mucosa	Colon
2	chr3:136703800-136708400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:136703800-136713600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:136703800-136732400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:136704000-136708800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:136704000-136713200	Weak transcription	Right Atrium	heart
7	chr3:136704000-136713400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:136704000-136713400	Weak transcription	Pancreas	Pancrea
9	chr3:136704000-136714600	Weak transcription	Right Ventricle	heart
10	chr3:136704000-136730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:136704200-136708400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:136704200-136713200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:136704200-136713200	Weak transcription	Small Intestine	intestine
14	chr3:136704400-136713400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:136704600-136708400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:136704600-136713600	Weak transcription	HSMM	muscle
17	chr3:136704800-136731000	Weak transcription	HSMMtube	muscle
18	chr3:136705000-136708000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:136705400-136713200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:136705600-136708200	Weak transcription	HMEC	breast
21	chr3:136705600-136708800	Weak transcription	Fetal Thymus	thymus
22	chr3:136705600-136709400	Weak transcription	Thymus	Thymus
23	chr3:136705600-136713200	Weak transcription	Hela-S3	cervix
24	chr3:136706800-136715800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:136707000-136707800	Strong transcription	NHEK	skin
26	chr3:136707000-136709200	Weak transcription	Lung	lung
27	chr3:136707200-136708200	Weak transcription	Esophagus	oesophagus
28	chr3:136707200-136712200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:136707400-136708000	Enhancers	Fetal Brain Male	brain
30	chr3:136707400-136708800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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