Variant report

Variant	rs4300612
Chromosome Location	chr15:83919472-83919473
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83918293..83920846-chr15:83924430..83926636,3	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10520576	0.88[CEU][hapmap];0.81[MEX][hapmap];0.81[AMR][1000 genomes]
rs1075619	0.92[ASW][hapmap];0.88[CEU][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.95[MKK][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1112404	0.88[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs11259905	0.87[CEU][hapmap]
rs11259965	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs11259967	0.81[AMR][1000 genomes]
rs11259968	0.81[AMR][1000 genomes]
rs11259969	0.88[CEU][hapmap]
rs11259970	0.84[AMR][1000 genomes]
rs11852287	0.85[AMR][1000 genomes]
rs11852408	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs11852446	0.81[AMR][1000 genomes]
rs11852496	0.88[CEU][hapmap];0.81[MEX][hapmap]
rs11853498	0.88[CEU][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11854888	0.81[AMR][1000 genomes]
rs11855639	0.81[AMR][1000 genomes]
rs11855722	1.00[ASN][1000 genomes]
rs11856164	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11856806	0.81[AMR][1000 genomes]
rs11857428	0.88[CEU][hapmap];0.84[AMR][1000 genomes]
rs11857641	0.87[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs11858162	1.00[ASN][1000 genomes]
rs11858377	0.88[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs11858468	1.00[ASN][1000 genomes]
rs12437558	1.00[ASN][1000 genomes]
rs12437901	1.00[ASN][1000 genomes]
rs12438398	0.81[AMR][1000 genomes]
rs12438526	1.00[ASN][1000 genomes]
rs12438575	1.00[ASN][1000 genomes]
rs12438708	1.00[ASN][1000 genomes]
rs12439122	1.00[ASN][1000 genomes]
rs12440265	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs12440386	0.81[AMR][1000 genomes]
rs12440562	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12441006	1.00[ASN][1000 genomes]
rs12441409	0.88[CEU][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12441575	1.00[ASN][1000 genomes]
rs12441847	0.84[AMR][1000 genomes]
rs12441907	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443109	0.88[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs12443424	0.81[AMR][1000 genomes]
rs12591855	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs12593638	0.88[CEU][hapmap];0.81[MEX][hapmap]
rs12595330	0.88[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs17361375	1.00[ASN][1000 genomes]
rs17507693	0.81[AMR][1000 genomes]
rs17507763	0.81[AMR][1000 genomes]
rs17508610	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17509233	0.88[CEU][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17567151	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs17567869	0.88[CEU][hapmap];0.81[MEX][hapmap]
rs17568298	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17568459	0.88[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs1877024	1.00[ASN][1000 genomes]
rs2034618	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs3915139	1.00[ASN][1000 genomes]
rs41326445	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];0.95[YRI][hapmap]
rs4389108	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4408505	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4423388	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4480763	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs4547301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563011	0.88[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs4572349	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55683536	0.81[AMR][1000 genomes]
rs55691648	1.00[ASN][1000 genomes]
rs55756182	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55878453	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55893521	1.00[ASN][1000 genomes]
rs55905779	1.00[ASN][1000 genomes]
rs55932429	1.00[ASN][1000 genomes]
rs55933526	1.00[ASN][1000 genomes]
rs56045305	0.81[AMR][1000 genomes]
rs56052029	0.84[AMR][1000 genomes]
rs56352317	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57219675	0.81[AMR][1000 genomes]
rs57729044	0.81[AMR][1000 genomes]
rs58006707	0.82[AMR][1000 genomes]
rs58847484	1.00[ASN][1000 genomes]
rs59828448	1.00[ASN][1000 genomes]
rs59896565	0.81[AMR][1000 genomes]
rs60344060	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60819629	1.00[ASN][1000 genomes]
rs61267530	0.84[AMR][1000 genomes]
rs62010162	1.00[ASN][1000 genomes]
rs62010164	1.00[ASN][1000 genomes]
rs62010165	1.00[ASN][1000 genomes]
rs62010166	1.00[ASN][1000 genomes]
rs62010170	1.00[ASN][1000 genomes]
rs62010172	1.00[ASN][1000 genomes]
rs62010173	1.00[ASN][1000 genomes]
rs62010174	1.00[ASN][1000 genomes]
rs62010175	1.00[ASN][1000 genomes]
rs62010177	1.00[ASN][1000 genomes]
rs62010208	1.00[ASN][1000 genomes]
rs62010212	0.81[AMR][1000 genomes]
rs62010214	0.81[AMR][1000 genomes]
rs62010220	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62010247	1.00[ASN][1000 genomes]
rs62010248	0.81[AMR][1000 genomes]
rs62010252	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62010254	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62010255	0.84[AMR][1000 genomes]
rs62010258	0.84[AMR][1000 genomes]
rs62011869	0.84[AMR][1000 genomes]
rs62025861	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62025914	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62025915	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62025919	1.00[ASN][1000 genomes]
rs62025921	1.00[ASN][1000 genomes]
rs62025923	1.00[ASN][1000 genomes]
rs6603042	1.00[ASN][1000 genomes]
rs66619192	1.00[ASN][1000 genomes]
rs66757932	1.00[ASN][1000 genomes]
rs67933024	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7164083	0.81[AMR][1000 genomes]
rs7165114	0.87[CEU][hapmap];0.81[AMR][1000 genomes]
rs7165978	0.88[CEU][hapmap];0.81[MEX][hapmap]
rs7166078	1.00[ASN][1000 genomes]
rs7172590	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7179675	1.00[ASN][1000 genomes]
rs7180692	1.00[ASN][1000 genomes]
rs7183171	1.00[ASN][1000 genomes]
rs72755992	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7495630	0.88[CEU][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7495911	0.88[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes]
rs8027577	0.88[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs8031723	0.82[CEU][hapmap];0.81[TSI][hapmap];0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs8033380	1.00[ASN][1000 genomes]
rs8038486	0.88[CEU][hapmap];0.81[MEX][hapmap];0.81[AMR][1000 genomes]
rs8043224	0.88[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs965263	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs965264	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs9707895	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[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	nsv534418	chr15:83770116-83960718	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4300612	WDR73	cis	parietal	SCAN
rs4300612	C15orf40	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83917200-83922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr15:83917200-83931800	Weak transcription	HSMMtube	muscle
3	chr15:83917200-83932800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:83917400-83919800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:83917400-83924400	Weak transcription	NHEK	skin
6	chr15:83917800-83919600	Weak transcription	NHDF-Ad	bronchial
7	chr15:83917800-83919800	Weak transcription	HMEC	breast
8	chr15:83917800-83920400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr15:83918000-83920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:83918000-83925800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:83918200-83925200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:83918200-83925200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:83918400-83920400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr15:83919200-83920400	Enhancers	Hela-S3	cervix
15	chr15:83919400-83919600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:83919400-83920000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:83919400-83920200	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links