Variant report

Variant	rs2070132
Chromosome Location	chr19:36727365-36727366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36721445..36724084-chr19:36726404..36728465,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10409091	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10411031	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10416179	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10416237	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10417892	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10418510	0.86[CHB][hapmap];0.91[CHD][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap]
rs10420071	0.81[CHB][hapmap]
rs10426507	0.81[MEX][hapmap]
rs12973781	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2112971	0.81[MEX][hapmap]
rs2271844	0.81[CHB][hapmap];0.89[CHD][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap]
rs2287897	0.96[CEU][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs2287898	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2310856	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2385801	0.90[MEX][hapmap];0.80[TSI][hapmap]
rs2385803	0.86[CHB][hapmap]
rs2385804	0.90[CHB][hapmap]
rs2432039	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2432042	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2432043	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2432045	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2432049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2432051	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2432052	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2432054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2438514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2438517	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28408024	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2918375	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2918378	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2918379	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2918380	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945945	0.90[CHB][hapmap];0.91[CHD][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap]
rs2945950	0.90[CHB][hapmap]
rs2945961	0.90[CHB][hapmap];0.91[CHD][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap]
rs2945972	0.90[CHB][hapmap];0.91[CHD][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap]
rs2945985	0.90[MEX][hapmap];0.80[TSI][hapmap]
rs2945993	0.90[CHB][hapmap];0.91[CHD][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap]
rs2967484	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap]
rs2967504	0.81[CHB][hapmap]
rs2967506	0.95[CHB][hapmap];0.88[CHD][hapmap];0.81[MEX][hapmap]
rs2967517	0.81[CHB][hapmap];0.88[CHD][hapmap]
rs2967518	0.85[CHB][hapmap];0.91[CHD][hapmap];0.85[MEX][hapmap]
rs2967521	0.90[CHB][hapmap];0.88[CHD][hapmap]
rs2967524	0.81[CHB][hapmap];0.89[CHD][hapmap];0.95[MEX][hapmap];0.80[TSI][hapmap]
rs2972321	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2972525	0.82[ASN][1000 genomes]
rs2972526	0.83[ASN][1000 genomes]
rs2972537	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972539	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2972542	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4239585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4805162	0.81[MEX][hapmap]
rs4806283	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6510526	0.81[MEX][hapmap]
rs6510527	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7251727	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8102020	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv520020	chr19:36721368-36822594	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2070132	KIAA1559	cis	multi-tissue	Pritchard
rs2070132	ZNF781	cis	cerebellum	SCAN
rs2070132	ZNF780B	cis	cerebellum	SCAN
rs2070132	ITPKC	cis	cerebellum	SCAN
rs2070132	ZNF545	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36707400-36730200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:36707600-36731800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:36708200-36730800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:36710000-36732200	ZNF genes & repeats	A549	lung
5	chr19:36710000-36732200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:36711200-36728400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
7	chr19:36713000-36730200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr19:36714000-36731000	Strong transcription	Dnd41	blood
9	chr19:36714400-36731400	ZNF genes & repeats	Liver	Liver
10	chr19:36715200-36731200	Strong transcription	Fetal Brain Female	brain
11	chr19:36715200-36731600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
12	chr19:36716200-36728600	ZNF genes & repeats	Fetal Intestine Large	intestine
13	chr19:36716400-36730000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:36716400-36730200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:36716600-36728200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:36716600-36728200	ZNF genes & repeats	Lung	lung
17	chr19:36716600-36731400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr19:36716800-36728000	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr19:36716800-36730000	Strong transcription	Brain Germinal Matrix	brain
20	chr19:36716800-36730000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr19:36717000-36728600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:36717000-36728800	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:36717000-36730200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:36717200-36727400	Strong transcription	Rectal Smooth Muscle	rectum
25	chr19:36718400-36727400	Strong transcription	HSMMtube	muscle
26	chr19:36718400-36729000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr19:36718400-36729000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
28	chr19:36718400-36731800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:36719000-36728800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr19:36719200-36728400	ZNF genes & repeats	Thymus	Thymus
31	chr19:36719200-36730000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
32	chr19:36719200-36730800	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr19:36719400-36728400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:36719400-36729800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:36719400-36731400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:36719400-36731600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
37	chr19:36719800-36728400	Strong transcription	Brain Anterior Caudate	brain
38	chr19:36719800-36728400	ZNF genes & repeats	Small Intestine	intestine
39	chr19:36721000-36728800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:36721000-36735800	Weak transcription	Right Atrium	heart
41	chr19:36721400-36728800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
42	chr19:36721600-36728200	ZNF genes & repeats	Colonic Mucosa	Colon
43	chr19:36722200-36728200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:36722600-36728600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
45	chr19:36722800-36728600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:36723200-36728400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:36723200-36729800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:36723600-36728600	Strong transcription	HepG2	liver
49	chr19:36723600-36730600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
50	chr19:36723600-36730600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links