Variant report

Variant	rs7221510
Chromosome Location	chr17:46373671-46373672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46373164..46374962-chr17:46378148..46380200,2	K562	blood:
2	chr17:46372838..46377462-chr17:46383835..46389128,6	K562	blood:
3	chr17:46367583..46369623-chr17:46373634..46375148,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235300	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12603827	0.90[ASN][1000 genomes]
rs12937347	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1396868	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1509635	0.87[JPT][hapmap]
rs1553750	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2123344	0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2924250	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2924254	0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2938470	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[ASN][1000 genomes]
rs4239201	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4324172	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4423463	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4606751	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4793816	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6504160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6504210	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7209556	0.94[ASW][hapmap];0.84[MEX][hapmap];0.95[YRI][hapmap]
rs7211099	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7211614	0.85[AFR][1000 genomes]
rs7211780	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs7212220	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7213149	0.95[ASN][1000 genomes]
rs7216202	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7218287	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7218563	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072002	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8073710	0.87[ASW][hapmap];0.84[MEX][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs8077516	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8077763	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9303541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9797269	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9898383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9906658	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9913760	0.84[AFR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7221510	CDK5RAP3	cis	parietal	SCAN
rs7221510	RND2	cis	parietal	SCAN
rs7221510	CDK5RAP3	cis	cerebellum	SCAN
rs7221510	COPZ2	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46371000-46373800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr17:46371600-46375000	Weak transcription	Fetal Intestine Large	intestine
3	chr17:46372400-46373800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:46372400-46374400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:46372400-46375200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr17:46372800-46377400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr17:46372800-46378400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:46373000-46374200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:46373200-46374000	Enhancers	Primary T cells from cord blood	blood
10	chr17:46373200-46374000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr17:46373200-46374000	Enhancers	A549	lung
12	chr17:46373200-46374600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:46373200-46375000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr17:46373200-46375000	Enhancers	HUVEC	blood vessel
15	chr17:46373200-46375800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:46373200-46376400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr17:46373200-46376800	Enhancers	GM12878-XiMat	blood
18	chr17:46373200-46378200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr17:46373200-46378600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr17:46373200-46415000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:46373400-46374400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:46373600-46374200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr17:46373600-46375200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr17:46373600-46375400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr17:46373600-46375800	Enhancers	Fetal Intestine Small	intestine
26	chr17:46373600-46377200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr17:46373600-46388400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links