Variant report

Variant	rs67971203
Chromosome Location	chr3:136138396-136138397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10513002	0.87[EUR][1000 genomes]
rs13067714	0.87[EUR][1000 genomes]
rs16843879	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16843978	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17199880	0.87[EUR][1000 genomes]
rs17199978	0.87[EUR][1000 genomes]
rs17265675	0.87[EUR][1000 genomes]
rs17266364	0.91[EUR][1000 genomes]
rs3913715	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4125861	0.87[EUR][1000 genomes]
rs55848312	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56057807	0.87[EUR][1000 genomes]
rs56095774	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56218376	0.82[EUR][1000 genomes]
rs56264828	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56336182	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58636237	0.83[EUR][1000 genomes]
rs58641485	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60014495	0.85[EUR][1000 genomes]
rs60270684	0.85[EUR][1000 genomes]
rs66494666	0.85[EUR][1000 genomes]
rs66637842	0.80[AMR][1000 genomes]
rs66973954	0.82[EUR][1000 genomes]
rs67082054	0.83[EUR][1000 genomes]
rs67230667	0.85[EUR][1000 genomes]
rs67281610	0.82[EUR][1000 genomes]
rs67303976	0.82[EUR][1000 genomes]
rs67305360	0.82[EUR][1000 genomes]
rs67389407	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67452583	0.85[EUR][1000 genomes]
rs67525027	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67621498	0.85[EUR][1000 genomes]
rs67663578	0.85[EUR][1000 genomes]
rs67677899	0.87[EUR][1000 genomes]
rs6769582	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6773495	0.82[EUR][1000 genomes]
rs6773604	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67794070	0.85[EUR][1000 genomes]
rs67902591	0.83[EUR][1000 genomes]
rs67963055	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6808143	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73224201	0.87[EUR][1000 genomes]
rs73226130	0.82[EUR][1000 genomes]
rs7625592	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7636806	0.82[EUR][1000 genomes]
rs7650075	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7652176	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv877519	chr3:136035737-136279390	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv877520	chr3:136056861-136310985	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv877521	chr3:136069286-136310985	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv877522	chr3:136088038-136241028	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv877523	chr3:136088038-136310985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv520012	chr3:136088038-136314119	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv877524	chr3:136112109-136295283	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv877525	chr3:136112109-136310985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67971203	IL20RB	cis	Artery Tibial	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136054600-136172000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:136063400-136139000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr3:136063400-136139000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:136063600-136139200	Weak transcription	Pancreas	Pancrea
5	chr3:136069600-136138800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:136069600-136139400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:136069800-136159600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:136075800-136160200	Weak transcription	Brain Germinal Matrix	brain
9	chr3:136079400-136174200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:136085800-136139200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:136085800-136174800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:136086200-136174800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:136095800-136139200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:136104800-136139400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:136106000-136139200	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:136110000-136139000	Weak transcription	Ovary	ovary
17	chr3:136110800-136174200	Weak transcription	Esophagus	oesophagus
18	chr3:136112200-136174200	Weak transcription	Osteobl	bone
19	chr3:136113000-136174200	Weak transcription	Aorta	Aorta
20	chr3:136114400-136139800	Weak transcription	NHDF-Ad	bronchial
21	chr3:136114800-136160400	Weak transcription	Fetal Kidney	kidney
22	chr3:136115400-136174200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr3:136116200-136173400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:136116600-136174400	Weak transcription	Hela-S3	cervix
25	chr3:136116800-136139200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:136117400-136139200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:136118200-136170400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:136118800-136139200	Weak transcription	NHLF	lung
29	chr3:136119600-136139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:136122000-136139200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:136123000-136157000	Weak transcription	Colonic Mucosa	Colon
32	chr3:136123400-136139200	Weak transcription	HUVEC	blood vessel
33	chr3:136124000-136141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:136124400-136139200	Weak transcription	Right Ventricle	heart
35	chr3:136124600-136174000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:136125600-136139200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:136127400-136140000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:136128200-136139200	Weak transcription	Gastric	stomach
39	chr3:136128200-136139400	Weak transcription	Small Intestine	intestine
40	chr3:136129400-136139400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:136129800-136141400	Weak transcription	Brain Substantia Nigra	brain
42	chr3:136129800-136174200	Weak transcription	HSMMtube	muscle
43	chr3:136131000-136139200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:136131000-136160200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr3:136131400-136160400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:136131400-136175400	Weak transcription	HMEC	breast
47	chr3:136132000-136139400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:136132000-136145400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:136132800-136142000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:136132800-136142000	Strong transcription	Monocytes-CD14+_RO01746	blood

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