Variant report

Variant	rs1474188
Chromosome Location	chr3:191098539-191098540
allele	C/G
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:
2	chr3:191094269..191095897-chr3:191095965..191098815,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10513865	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1369278	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1369279	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16822368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16822380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16822451	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16822489	1.00[CEU][hapmap]
rs16848976	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16866501	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16866503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16866506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1715641	0.82[CHB][hapmap]
rs2117548	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2293379	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4247189	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4247190	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs4677633	0.96[ASN][1000 genomes]
rs4677724	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4677731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57369465	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs57831251	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58077600	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58596458	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58631024	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58648691	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59491001	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60089463	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60176909	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60204557	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9812544	0.97[ASN][1000 genomes]
rs9832656	0.95[ASN][1000 genomes]
rs9838800	0.95[ASN][1000 genomes]
rs9844500	0.95[ASN][1000 genomes]
rs9854318	0.95[ASN][1000 genomes]
rs9854581	0.96[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

No data

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	chr3:191079600-191099200	Weak transcription	Spleen	Spleen
6	chr3:191079600-191116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:191079600-191121200	Weak transcription	Gastric	stomach
8	chr3:191080200-191110200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:191080200-191118800	Weak transcription	Pancreas	Pancrea
10	chr3:191080600-191110400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:191087000-191115400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:191087800-191100000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:191087800-191109200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:191088000-191109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr3:191088600-191119600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:191093400-191099200	Weak transcription	Aorta	Aorta
17	chr3:191093400-191099200	Weak transcription	Lung	lung
18	chr3:191093400-191119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:191093400-191121400	Weak transcription	Esophagus	oesophagus
20	chr3:191094000-191098800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:191094600-191100600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:191094800-191102200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:191094800-191114800	Weak transcription	A549	lung
24	chr3:191095000-191098600	Weak transcription	Psoas Muscle	Psoas
25	chr3:191095000-191099000	Weak transcription	Fetal Brain Male	brain
26	chr3:191095000-191099400	Weak transcription	Small Intestine	intestine
27	chr3:191095000-191100000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr3:191095000-191100600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:191095000-191107600	Weak transcription	Fetal Intestine Small	intestine
30	chr3:191095200-191099200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:191095400-191099400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:191096000-191130200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:191096400-191099200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:191096400-191099600	Enhancers	Primary T cells from cord blood	blood
35	chr3:191096400-191101400	Strong transcription	NH-A	brain
36	chr3:191096400-191109600	Weak transcription	Brain Angular Gyrus	brain
37	chr3:191096600-191099200	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:191096600-191101800	Strong transcription	Hela-S3	cervix
39	chr3:191096600-191105800	Weak transcription	Brain Substantia Nigra	brain
40	chr3:191096600-191114800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:191096800-191098800	Weak transcription	K562	blood
42	chr3:191096800-191100000	Strong transcription	GM12878-XiMat	blood
43	chr3:191097000-191101000	Strong transcription	Placenta	Placenta
44	chr3:191097200-191100400	Strong transcription	NHDF-Ad	bronchial
45	chr3:191097200-191109200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:191097400-191098600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:191097400-191099800	Strong transcription	HepG2	liver
48	chr3:191097400-191100000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:191097400-191101200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr3:191097400-191101400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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