Variant report

Variant	rs10460364
Chromosome Location	chr2:173414077-173414078
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	chr2:173411388..173414251-chr2:173417353..173419671,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10193201	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11898288	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13012170	0.85[JPT][hapmap]
rs1319059	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1920979	0.95[CEU][hapmap];0.88[TSI][hapmap]
rs2357634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2357635	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2737086	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3108778	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35968313	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4246629	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972834	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972835	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4972840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs4972841	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs5015856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55978548	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62167825	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6710725	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715425	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723030	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6749369	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6759316	0.83[CEU][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs6759557	0.83[CEU][hapmap];0.83[TSI][hapmap]
rs7560501	0.88[EUR][1000 genomes]
rs7570417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7575064	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10460364	UBR3	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173392600-173419600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:173399600-173414400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:173410000-173418800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:173410600-173417000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:173410800-173418000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:173410800-173418800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:173411000-173419600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:173411400-173417600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:173412000-173414400	ZNF genes & repeats	GM12878-XiMat	blood
10	chr2:173412800-173415800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:173413000-173414200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:173413000-173415800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:173413000-173417400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:173413000-173419400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:173413000-173419600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:173413200-173414600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:173413400-173416000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr2:173413400-173419200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:173413600-173415400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:173413600-173415800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:173413600-173415800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr2:173413600-173416000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:173413800-173414200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:173413800-173414800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:173413800-173415600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:173413800-173416200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:173413800-173416800	Weak transcription	Primary B cells from cord blood	blood
28	chr2:173413800-173419800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:173414000-173415600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:173414000-173415600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:173414000-173416000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:173414000-173416400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:173414000-173416400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:173414000-173416600	Enhancers	Primary T cells from cord blood	blood
35	chr2:173414000-173417000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:173414000-173417200	Weak transcription	HMEC	breast
37	chr2:173414000-173418000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:173414000-173418000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:173414000-173419400	Weak transcription	Placenta	Placenta

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