Variant report

Variant	rs10051223
Chromosome Location	chr5:147819366-147819367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147816876..147819657-chr5:147820613..147823403,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10035818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10041283	0.95[CEU][hapmap];0.94[TSI][hapmap]
rs10042369	0.84[EUR][1000 genomes]
rs10043775	0.95[CEU][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs10044061	0.95[CEU][hapmap]
rs10050560	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs10055332	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10055430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10056586	0.88[EUR][1000 genomes]
rs10060753	0.81[CEU][hapmap]
rs10068216	0.95[CEU][hapmap];0.94[TSI][hapmap]
rs10072051	0.95[CEU][hapmap]
rs10077690	0.81[CEU][hapmap];0.80[TSI][hapmap]
rs10079420	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10477376	0.95[CEU][hapmap];0.94[TSI][hapmap]
rs11168046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168047	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1128450	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513547	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs12717973	0.81[CEU][hapmap];0.80[TSI][hapmap]
rs12717974	0.84[EUR][1000 genomes]
rs13174567	0.86[EUR][1000 genomes]
rs13354454	0.80[EUR][1000 genomes]
rs1345741	0.93[ASW][hapmap];0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes]
rs1363707	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1422976	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17108251	0.95[CEU][hapmap];0.94[TSI][hapmap]
rs17719763	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17720155	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17776882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17777066	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1971431	0.88[EUR][1000 genomes]
rs1984789	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2037997	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2112761	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28617172	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34269182	0.88[EUR][1000 genomes]
rs3734120	0.95[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs3734121	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3749689	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3925019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4274967	0.88[EUR][1000 genomes]
rs4274968	0.88[EUR][1000 genomes]
rs4349707	0.95[CEU][hapmap]
rs4406123	0.83[AMR][1000 genomes]
rs4472255	0.88[EUR][1000 genomes]
rs4574533	0.88[EUR][1000 genomes]
rs4599524	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]
rs4599526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4639212	0.80[EUR][1000 genomes]
rs4639213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705247	0.93[ASW][hapmap];0.86[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.90[YRI][hapmap]
rs4705249	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4705253	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60625004	0.87[EUR][1000 genomes]
rs6580545	0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs6580546	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6861078	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884076	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs6892647	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7700502	0.84[EUR][1000 genomes]
rs7713927	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7727161	0.88[EUR][1000 genomes]
rs7727320	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7728004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7733401	0.98[EUR][1000 genomes]
rs7736019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9325095	0.95[CEU][hapmap];0.94[TSI][hapmap]
rs9325096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9325097	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs9325098	0.95[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][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	nsv830516	chr5:147801104-147966093	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10051223	ABLIM3	cis	cerebellum	SCAN
rs10051223	SPINK9	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147777400-147823200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:147778400-147823400	Strong transcription	Placenta	Placenta
3	chr5:147778800-147822000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:147781800-147823600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:147782600-147822800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:147784200-147823600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:147784400-147824600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:147797000-147832400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:147797600-147826400	Weak transcription	Stomach Mucosa	stomach
10	chr5:147801200-147823600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:147804400-147822200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:147807400-147819800	Weak transcription	Small Intestine	intestine
13	chr5:147807400-147826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:147807600-147819800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:147807600-147823800	Weak transcription	Brain Angular Gyrus	brain
16	chr5:147807600-147824400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:147807600-147833600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:147807600-147833600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:147807600-147834000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:147808000-147832000	Weak transcription	Right Ventricle	heart
21	chr5:147808000-147835400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:147808200-147822200	Weak transcription	Colonic Mucosa	Colon
23	chr5:147809200-147819800	Weak transcription	HMEC	breast
24	chr5:147809200-147820600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:147810200-147822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:147810200-147823000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:147810200-147823600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:147810200-147824400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr5:147810400-147823200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:147810400-147823400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:147810400-147823600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:147810600-147821800	Strong transcription	GM12878-XiMat	blood
33	chr5:147810600-147822400	Strong transcription	Fetal Intestine Large	intestine
34	chr5:147810600-147822800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr5:147810600-147825600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:147811000-147822000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr5:147811200-147823400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:147811400-147823400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:147811600-147823000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:147811800-147823400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr5:147811800-147824600	Strong transcription	Fetal Thymus	thymus
42	chr5:147812000-147821800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:147812000-147821800	Strong transcription	HSMM	muscle
44	chr5:147812000-147822000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:147812000-147823200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:147812000-147823400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:147812000-147823400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr5:147812200-147821800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:147812200-147823600	Strong transcription	Liver	Liver
50	chr5:147812400-147822000	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links