Variant report

Variant	rs432085
Chromosome Location	chr3:191099468-191099469
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	chr3:191096520..191099526-chr3:191099935..191102784,3	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10937477	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs13061649	0.82[EUR][1000 genomes]
rs1347400	1.00[ASW][hapmap];0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs1465737	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1473866	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs150506	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159488	0.87[ASN][1000 genomes]
rs159489	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1656143	0.81[EUR][1000 genomes]
rs1662184	0.82[EUR][1000 genomes]
rs167148	0.82[EUR][1000 genomes]
rs176820	0.82[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs176821	0.82[EUR][1000 genomes]
rs176822	0.82[EUR][1000 genomes]
rs184140	0.82[EUR][1000 genomes]
rs186063	0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap]
rs186064	0.82[EUR][1000 genomes]
rs186065	0.82[EUR][1000 genomes]
rs186066	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188384	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs188385	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs192671	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs211043	0.82[EUR][1000 genomes]
rs2572064	0.80[EUR][1000 genomes]
rs293797	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.92[LWK][hapmap];0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs293798	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs293800	0.90[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs293802	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs293804	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs293805	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs293806	0.82[CHB][hapmap];0.97[GIH][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs293807	0.82[EUR][1000 genomes]
rs293808	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293809	0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs293810	0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs293811	0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs293812	0.82[EUR][1000 genomes]
rs293813	0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs293814	0.82[EUR][1000 genomes]
rs293815	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs293837	0.81[EUR][1000 genomes]
rs293839	0.81[EUR][1000 genomes]
rs293840	0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs293844	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293846	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293851	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs297396	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs364519	0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs366626	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs367747	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs368665	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs369174	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs373035	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381090	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383075	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs383529	0.82[EUR][1000 genomes]
rs386241	0.81[EUR][1000 genomes]
rs389765	0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs390744	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392311	0.80[EUR][1000 genomes]
rs399575	0.81[EUR][1000 genomes]
rs401465	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs403078	0.82[EUR][1000 genomes]
rs407226	0.82[EUR][1000 genomes]
rs415149	0.82[EUR][1000 genomes]
rs420266	0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs426466	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429374	0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs429521	0.80[EUR][1000 genomes]
rs434556	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs436393	0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs436428	0.81[EUR][1000 genomes]
rs437244	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs438589	0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs441509	0.82[EUR][1000 genomes]
rs445914	0.82[EUR][1000 genomes]
rs447931	0.81[EUR][1000 genomes]
rs448133	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs448643	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs449398	0.82[EUR][1000 genomes]
rs4677630	1.00[ASW][hapmap];0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs4677734	1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4677735	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs491252	0.80[EUR][1000 genomes]
rs513632	0.80[EUR][1000 genomes]
rs520494	0.81[EUR][1000 genomes]
rs523270	1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs525774	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526785	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529523	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566548	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs568702	0.80[EUR][1000 genomes]
rs578401	0.82[EUR][1000 genomes]
rs6779820	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs6953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697905	0.82[CHB][hapmap];0.83[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs709142	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9847278	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv878107	chr3:191069984-191100073	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs432085	PPP1R2	cis	cerebellum	SCAN
rs432085	CCDC50	cis	Artery Aorta	GTEx
rs432085	CCDC50	cis	Artery Tibial	GTEx
rs432085	CCDC50	cis	Thyroid	GTEx
rs432085	TFRC	cis	parietal	SCAN
rs432085	PIGX	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
2	chr3:191071400-191100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:191072600-191100800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:191079400-191115800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:191079600-191116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:191079600-191121200	Weak transcription	Gastric	stomach
7	chr3:191080200-191110200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:191080200-191118800	Weak transcription	Pancreas	Pancrea
9	chr3:191080600-191110400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:191087000-191115400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:191087800-191100000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:191087800-191109200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:191088000-191109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:191088600-191119600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:191093400-191119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:191093400-191121400	Weak transcription	Esophagus	oesophagus
17	chr3:191094600-191100600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:191094800-191102200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:191094800-191114800	Weak transcription	A549	lung
20	chr3:191095000-191100000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:191095000-191100600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:191095000-191107600	Weak transcription	Fetal Intestine Small	intestine
23	chr3:191096000-191130200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:191096400-191099600	Enhancers	Primary T cells from cord blood	blood
25	chr3:191096400-191101400	Strong transcription	NH-A	brain
26	chr3:191096400-191109600	Weak transcription	Brain Angular Gyrus	brain
27	chr3:191096600-191101800	Strong transcription	Hela-S3	cervix
28	chr3:191096600-191105800	Weak transcription	Brain Substantia Nigra	brain
29	chr3:191096600-191114800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:191096800-191100000	Strong transcription	GM12878-XiMat	blood
31	chr3:191097000-191101000	Strong transcription	Placenta	Placenta
32	chr3:191097200-191100400	Strong transcription	NHDF-Ad	bronchial
33	chr3:191097200-191109200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:191097400-191099800	Strong transcription	HepG2	liver
35	chr3:191097400-191100000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:191097400-191101200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr3:191097400-191101400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:191097400-191101800	Strong transcription	HUVEC	blood vessel
39	chr3:191097400-191102200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:191097400-191103200	Strong transcription	Liver	Liver
41	chr3:191097400-191103400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr3:191097600-191100000	Weak transcription	Right Atrium	heart
43	chr3:191097600-191100400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr3:191097600-191101200	Strong transcription	NHEK	skin
45	chr3:191097600-191102600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr3:191097600-191103000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:191097800-191100000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr3:191097800-191100000	Strong transcription	HSMM	muscle
49	chr3:191097800-191101600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:191097800-191101800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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