Variant report

Variant	rs12943464
Chromosome Location	chr17:45690351-45690352
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10163469	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10853090	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11079782	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11079784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1138193	0.88[ASN][1000 genomes]
rs11650372	0.93[EUR][1000 genomes]
rs11656855	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11870935	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs11871606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12150231	0.93[EUR][1000 genomes]
rs12603290	0.86[EUR][1000 genomes]
rs12936468	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12937560	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1912487	0.82[CEU][hapmap]
rs2317826	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs35919601	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3760370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809868	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs3865314	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4092460	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4239162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4239163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4264433	0.83[EUR][1000 genomes]
rs4289035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4375701	0.91[EUR][1000 genomes]
rs4399567	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4439799	0.80[CEU][hapmap]
rs4580230	0.89[EUR][1000 genomes]
rs4793836	0.90[ASN][1000 genomes]
rs4793842	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4793908	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4793913	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4793978	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4794001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4794016	0.92[EUR][1000 genomes]
rs4794047	0.81[CEU][hapmap]
rs4794048	0.96[CEU][hapmap]
rs4794058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55633793	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56226803	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62074014	0.82[EUR][1000 genomes]
rs62074015	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6503796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6505049	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7207542	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7210472	0.81[EUR][1000 genomes]
rs7210738	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs7213086	0.95[ASN][1000 genomes]
rs7214799	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7219303	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7220935	0.95[EUR][1000 genomes]
rs7223029	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73315878	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8065437	0.93[EUR][1000 genomes]
rs8065669	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs8070463	0.84[CEU][hapmap]
rs8070759	0.86[EUR][1000 genomes]
rs8072100	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs8072644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8075411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8077106	0.85[EUR][1000 genomes]
rs8078686	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs8078880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8081717	0.85[EUR][1000 genomes]
rs8082284	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9635762	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9635763	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9891111	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9905583	0.90[EUR][1000 genomes]
rs9905922	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9911944	0.96[CEU][hapmap]
rs9912311	0.82[CEU][hapmap]
rs9915919	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv469573	chr17:45511582-45698942	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv471701	chr17:45511583-45698942	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv471403	chr17:45608444-45700642	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv482203	chr17:45608444-45700642	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12943464	KPNB1	Cis_1M	lymphoblastoid	RTeQTL
rs12943464	TBKBP1	cis	Artery Tibial	GTEx
rs12943464	TBKBP1	cis	Nerve Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45659200-45698800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:45663800-45702800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr17:45664800-45695000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr17:45665600-45698200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:45666000-45694200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:45666800-45693600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:45667200-45698600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr17:45667400-45718200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr17:45668200-45699000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:45670000-45703000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:45670200-45698600	Weak transcription	Fetal Heart	heart
12	chr17:45670400-45698200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:45672400-45704200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr17:45672600-45691000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:45672600-45703000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr17:45679000-45696000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr17:45679200-45695800	Weak transcription	Small Intestine	intestine
18	chr17:45679600-45691800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:45679600-45695600	Weak transcription	Fetal Brain Male	brain
20	chr17:45679800-45695800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr17:45682200-45699000	Strong transcription	Fetal Muscle Leg	muscle
22	chr17:45682200-45699200	Weak transcription	Right Atrium	heart
23	chr17:45682800-45698800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:45682800-45702000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:45683000-45695600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:45683400-45695600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr17:45683800-45695800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr17:45685200-45690400	Weak transcription	Brain Substantia Nigra	brain
29	chr17:45685200-45691000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr17:45685400-45690400	Weak transcription	Fetal Brain Female	brain
31	chr17:45685400-45691000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr17:45685600-45695600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr17:45685600-45695800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:45685600-45695800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:45685800-45691600	Weak transcription	Colonic Mucosa	Colon
36	chr17:45686800-45691600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr17:45686800-45699400	Strong transcription	Fetal Intestine Small	intestine
38	chr17:45686800-45703400	Strong transcription	Fetal Stomach	stomach
39	chr17:45687600-45690400	Weak transcription	Primary B cells from cord blood	blood
40	chr17:45687600-45693600	Strong transcription	HUVEC	blood vessel
41	chr17:45687600-45701400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr17:45687800-45693000	Weak transcription	Hela-S3	cervix
43	chr17:45687800-45693200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr17:45687800-45693800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:45688000-45693800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr17:45688000-45701600	Strong transcription	Primary T cells from cord blood	blood
47	chr17:45688200-45691600	Weak transcription	K562	blood
48	chr17:45688400-45697200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr17:45688600-45692200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr17:45688600-45693600	Strong transcription	Left Ventricle	heart

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