Variant report

Variant	rs72975363
Chromosome Location	chr3:136409621-136409622
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	chr3:136389835..136392302-chr3:136408179..136409824,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10513016	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844056	0.97[EUR][1000 genomes]
rs17365351	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17466223	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3931416	0.81[EUR][1000 genomes]
rs55763637	0.93[EUR][1000 genomes]
rs56218376	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56308712	0.81[EUR][1000 genomes]
rs56888009	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57466072	0.96[EUR][1000 genomes]
rs57681357	0.93[EUR][1000 genomes]
rs58636237	0.85[EUR][1000 genomes]
rs59361983	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59616231	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59696368	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60014495	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs60270684	0.82[AFR][1000 genomes]
rs66470158	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66471262	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66637228	0.99[EUR][1000 genomes]
rs66739346	0.99[EUR][1000 genomes]
rs66902780	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66973954	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs67231188	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67236827	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67281610	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs67303976	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs67305360	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs67546863	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67621498	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs67663578	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6773495	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs67794070	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs67888773	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67902591	0.85[EUR][1000 genomes]
rs67923745	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68018658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6805814	1.00[ASN][1000 genomes]
rs73226130	0.81[EUR][1000 genomes]
rs73228025	0.91[EUR][1000 genomes]
rs73228037	0.94[EUR][1000 genomes]
rs73228040	0.94[EUR][1000 genomes]
rs73230052	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73230065	1.00[ASN][1000 genomes]
rs73230077	0.85[EUR][1000 genomes]
rs73230078	0.85[EUR][1000 genomes]
rs73230095	0.83[EUR][1000 genomes]
rs73231917	0.81[EUR][1000 genomes]
rs7636806	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7646563	0.99[EUR][1000 genomes]
rs7646723	0.99[EUR][1000 genomes]
rs923001	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][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	nsv460861	chr3:136222954-136425600	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv591851	chr3:136222954-136425600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1008866	chr3:136364511-136427790	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv877529	chr3:136364511-136487559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72975363	IL20RB	cis	Nerve Tibial	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136381800-136410800	Weak transcription	Psoas Muscle	Psoas
2	chr3:136386400-136412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:136387200-136412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:136390200-136413000	Weak transcription	Pancreas	Pancrea
5	chr3:136390600-136412000	Weak transcription	Thymus	Thymus
6	chr3:136390800-136447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:136394200-136409800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:136395000-136410200	Weak transcription	Small Intestine	intestine
9	chr3:136395000-136418200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:136396600-136411800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr3:136398600-136410200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:136400600-136412000	Weak transcription	Primary B cells from cord blood	blood
13	chr3:136403600-136410800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:136404800-136410600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:136405000-136412400	Weak transcription	Fetal Intestine Small	intestine
16	chr3:136405400-136410200	Weak transcription	Left Ventricle	heart
17	chr3:136405400-136413000	Weak transcription	Fetal Heart	heart
18	chr3:136405600-136410200	Weak transcription	GM12878-XiMat	blood
19	chr3:136406200-136409800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:136407600-136409800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:136407600-136410600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:136407600-136411800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:136407800-136412400	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:136408000-136409800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr3:136408200-136411600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:136408400-136411600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:136408600-136410600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr3:136408800-136410200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:136408800-136410600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:136408800-136412200	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:136408800-136412400	Weak transcription	Right Atrium	heart
32	chr3:136408800-136414600	Weak transcription	Gastric	stomach
33	chr3:136409000-136410200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:136409000-136410400	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:136409000-136410800	Weak transcription	Right Ventricle	heart
36	chr3:136409000-136412000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr3:136409400-136409800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr3:136409400-136410000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr3:136409400-136410200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr3:136409400-136413000	Weak transcription	Adipose Nuclei	Adipose
41	chr3:136409400-136417800	Weak transcription	Aorta	Aorta
42	chr3:136409400-136422000	Weak transcription	Lung	lung
43	chr3:136409600-136410000	Flanking Active TSS	K562	blood
44	chr3:136409600-136411400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:136409600-136411600	Weak transcription	HepG2	liver

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