Variant report

Variant	rs507653
Chromosome Location	chr18:43432292-43432293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10432160	0.81[JPT][hapmap]
rs10432197	0.85[JPT][hapmap]
rs1055066	0.87[CEU][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap]
rs10853537	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11082489	0.83[MEX][hapmap]
rs11082490	0.87[CEU][hapmap];0.87[MEX][hapmap]
rs11082491	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11082492	0.87[ASN][1000 genomes]
rs11660631	0.86[YRI][hapmap]
rs11661333	0.87[CEU][hapmap]
rs11663670	0.87[LWK][hapmap];0.83[YRI][hapmap]
rs12455488	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12456289	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12458195	0.87[CEU][hapmap];0.80[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12604912	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1371976	0.87[CEU][hapmap];0.80[GIH][hapmap]
rs1660561	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1790299	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1893523	0.87[CEU][hapmap];0.80[GIH][hapmap]
rs2282614	0.89[LWK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs2919643	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2958437	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34185907	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35316177	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs492411	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs500899	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs570975	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs571690	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61104666	0.93[ASN][1000 genomes]
rs7233909	0.91[CEU][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8083287	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8085782	0.87[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs8093119	0.81[JPT][hapmap]
rs8095439	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8099496	0.87[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9950673	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9958081	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs507653	KIAA1632	cis	lymphoblastoid	seeQTL
rs507653	KIAA1632	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43418400-43439000	Weak transcription	A549	lung
2	chr18:43418600-43437400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:43419200-43434000	Weak transcription	Small Intestine	intestine
4	chr18:43420000-43432400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:43420000-43436200	Weak transcription	Hela-S3	cervix
6	chr18:43420200-43491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr18:43420800-43435400	Weak transcription	HMEC	breast
8	chr18:43420800-43442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:43422600-43432400	Weak transcription	Fetal Kidney	kidney
10	chr18:43423400-43432400	Weak transcription	HepG2	liver
11	chr18:43425800-43437400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr18:43426000-43438200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr18:43426400-43435000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr18:43426400-43446000	Weak transcription	Stomach Mucosa	stomach
15	chr18:43427000-43435200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr18:43427000-43441600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr18:43427200-43432400	Weak transcription	Fetal Brain Male	brain
18	chr18:43427200-43434000	Weak transcription	Brain Angular Gyrus	brain
19	chr18:43427200-43436600	Weak transcription	HUVEC	blood vessel
20	chr18:43427600-43435000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr18:43427600-43436200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:43427800-43441200	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr18:43428000-43441200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr18:43428000-43448400	Strong transcription	Primary T cells from cord blood	blood
25	chr18:43428200-43435800	Strong transcription	Pancreas	Pancrea
26	chr18:43428200-43437800	Weak transcription	K562	blood
27	chr18:43428200-43440400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:43428200-43448200	Strong transcription	Placenta	Placenta
29	chr18:43428200-43455600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr18:43428400-43448400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr18:43428400-43467800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr18:43428600-43433000	Weak transcription	Psoas Muscle	Psoas
33	chr18:43428600-43434800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:43428600-43435800	Strong transcription	Spleen	Spleen
35	chr18:43428600-43440600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr18:43428600-43442800	Strong transcription	Thymus	Thymus
37	chr18:43428600-43448800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr18:43429000-43441400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr18:43429000-43448200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr18:43429000-43454600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr18:43429000-43464800	Strong transcription	Fetal Intestine Large	intestine
42	chr18:43429200-43434200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr18:43429200-43435800	Strong transcription	Esophagus	oesophagus
44	chr18:43429200-43436000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:43429200-43440400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr18:43429200-43440600	Strong transcription	Fetal Muscle Leg	muscle
47	chr18:43429200-43440800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr18:43429200-43440800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr18:43429200-43441200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr18:43429200-43443600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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