Variant report

Variant	rs4599524
Chromosome Location	chr5:147784727-147784728
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10035818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10036053	0.80[ASN][1000 genomes]
rs10041283	0.95[CEU][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs10042369	0.83[EUR][1000 genomes]
rs10043775	0.95[CEU][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs10044054	0.87[AFR][1000 genomes]
rs10044061	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs10050560	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10051223	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10055332	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10055430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10057472	0.83[ASN][1000 genomes]
rs10060623	0.88[EUR][1000 genomes]
rs10060753	0.81[CEU][hapmap]
rs10068216	0.95[CEU][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs10072051	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs10077690	0.81[CEU][hapmap];0.83[TSI][hapmap]
rs10079420	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10477376	0.95[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs11168046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168047	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1128450	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12513547	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs12717971	0.83[ASN][1000 genomes]
rs12717973	0.81[CEU][hapmap];0.83[TSI][hapmap]
rs13174567	0.82[EUR][1000 genomes]
rs13354454	0.87[EUR][1000 genomes]
rs1345741	0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1363704	0.82[ASN][1000 genomes]
rs1363705	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1363707	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1422968	0.83[ASN][1000 genomes]
rs1422970	0.83[ASN][1000 genomes]
rs1422976	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs1422977	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17108251	0.95[CEU][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs17719662	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17719763	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17719873	0.83[ASN][1000 genomes]
rs17720155	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17776674	0.83[ASN][1000 genomes]
rs17776882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17777066	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1862431	0.82[ASN][1000 genomes]
rs1984789	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2037997	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2112761	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28442279	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28617172	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2895761	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs34685718	0.88[EUR][1000 genomes]
rs35700061	0.83[ASN][1000 genomes]
rs36028618	0.88[EUR][1000 genomes]
rs3734120	0.95[CEU][hapmap];0.94[TSI][hapmap]
rs3734121	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3749689	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3925019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4349707	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs4406123	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4599526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4639212	0.87[EUR][1000 genomes]
rs4639213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705247	0.86[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.82[ASN][1000 genomes]
rs4705249	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4705253	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580544	0.82[ASN][1000 genomes]
rs6580545	0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.82[ASN][1000 genomes]
rs6580546	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6861078	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6875795	0.83[ASN][1000 genomes]
rs6876308	0.83[ASN][1000 genomes]
rs6884076	0.94[CEU][hapmap]
rs6886203	0.82[ASN][1000 genomes]
rs6892647	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7700502	0.81[EUR][1000 genomes]
rs7712350	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7713927	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7727320	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7728004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7730707	0.82[ASN][1000 genomes]
rs7733401	0.89[EUR][1000 genomes]
rs7736019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9325095	0.95[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs9325096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9325097	0.94[CEU][hapmap]
rs9325098	0.95[CEU][hapmap];0.94[TSI][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4599524	ABLIM3	cis	cerebellum	SCAN
rs4599524	SPINK9	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147764400-147789800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:147764400-147795400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:147764400-147796600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:147764400-147806800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:147765200-147796200	Weak transcription	Esophagus	oesophagus
6	chr5:147765800-147789600	Weak transcription	Lung	lung
7	chr5:147766200-147789600	Weak transcription	Spleen	Spleen
8	chr5:147768200-147805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:147768400-147789800	Weak transcription	Aorta	Aorta
10	chr5:147772600-147789600	Weak transcription	Gastric	stomach
11	chr5:147772600-147808000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr5:147772600-147808800	Strong transcription	Dnd41	blood
13	chr5:147772800-147788400	Weak transcription	Psoas Muscle	Psoas
14	chr5:147772800-147809400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:147773400-147789800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:147773600-147786000	Strong transcription	Primary T cells from cord blood	blood
17	chr5:147773600-147808800	Strong transcription	Fetal Thymus	thymus
18	chr5:147773800-147796200	Strong transcription	HSMM	muscle
19	chr5:147774000-147809400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:147774200-147800400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:147774200-147809000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:147774400-147807800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr5:147775400-147801600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:147776400-147789800	Weak transcription	Pancreas	Pancrea
25	chr5:147777200-147808000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr5:147777400-147785800	Strong transcription	HMEC	breast
27	chr5:147777400-147823200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:147777600-147807600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:147777600-147809600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:147778000-147807600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:147778400-147792800	Strong transcription	K562	blood
32	chr5:147778400-147808200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:147778400-147809400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:147778400-147823400	Strong transcription	Placenta	Placenta
35	chr5:147778600-147785200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:147778600-147785400	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:147778600-147791200	Strong transcription	HepG2	liver
38	chr5:147778600-147798600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:147778600-147809400	Strong transcription	Liver	Liver
40	chr5:147778800-147798400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr5:147778800-147800400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr5:147778800-147803200	Weak transcription	Small Intestine	intestine
43	chr5:147778800-147808200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr5:147778800-147809400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:147778800-147822000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:147779000-147786000	Strong transcription	Fetal Intestine Large	intestine
47	chr5:147779000-147789000	Weak transcription	Right Ventricle	heart
48	chr5:147779000-147795400	Weak transcription	Fetal Intestine Small	intestine
49	chr5:147779000-147796200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr5:147779000-147796600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links