Variant report

Variant	rs4460388
Chromosome Location	chr8:50842124-50842125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10096242	0.83[ASN][1000 genomes]
rs10112215	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs10112818	0.88[JPT][hapmap];0.81[AFR][1000 genomes]
rs1021202	0.85[CEU][hapmap]
rs1023979	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs10504093	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10957681	0.83[ASN][1000 genomes]
rs10957739	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs10957741	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs1157932	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11773979	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11777957	0.88[JPT][hapmap]
rs11781675	0.93[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11782772	0.83[ASN][1000 genomes]
rs11783503	0.87[JPT][hapmap]
rs11783631	0.87[JPT][hapmap]
rs12541061	0.85[CEU][hapmap]
rs12541363	0.81[CEU][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs13264385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13273334	0.82[JPT][hapmap]
rs1344326	0.87[JPT][hapmap]
rs1352114	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs1484805	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs1484807	0.85[CEU][hapmap]
rs1484813	0.85[CEU][hapmap]
rs1486258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1552378	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1552380	0.89[JPT][hapmap]
rs167631	0.87[CEU][hapmap]
rs1843607	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs186455	0.87[CEU][hapmap]
rs2015043	0.85[CEU][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs2086888	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs2129161	0.87[CEU][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs2129169	0.87[CEU][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs2170953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2220157	0.87[CEU][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs223081	0.81[EUR][1000 genomes]
rs2385554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2385696	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2385697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2385698	0.87[CEU][hapmap]
rs2449957	0.81[EUR][1000 genomes]
rs2449961	0.89[ASN][1000 genomes]
rs2449963	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs28869911	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs318851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs318853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs318854	0.86[CHB][hapmap]
rs318867	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs318872	0.81[EUR][1000 genomes]
rs318873	0.81[EUR][1000 genomes]
rs318875	0.81[EUR][1000 genomes]
rs318913	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs318915	0.85[CEU][hapmap]
rs318916	0.87[CEU][hapmap]
rs318918	0.85[CEU][hapmap]
rs318920	0.87[CEU][hapmap]
rs318923	0.87[CEU][hapmap]
rs379601	0.88[ASN][1000 genomes]
rs3812426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs404309	0.88[ASN][1000 genomes]
rs412929	0.87[ASN][1000 genomes]
rs415276	0.81[EUR][1000 genomes]
rs4242456	0.88[JPT][hapmap]
rs451034	0.88[ASN][1000 genomes]
rs453906	0.83[ASN][1000 genomes]
rs4873120	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4873123	0.88[JPT][hapmap]
rs4873367	0.81[JPT][hapmap]
rs55780592	0.84[ASN][1000 genomes]
rs6472838	0.84[ASN][1000 genomes]
rs6472839	0.86[ASN][1000 genomes]
rs6984738	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6991925	0.89[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs7002291	0.83[ASN][1000 genomes]
rs7002909	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7003221	0.83[ASN][1000 genomes]
rs7010915	0.87[JPT][hapmap]
rs7014520	0.87[JPT][hapmap]
rs7828900	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs7833019	0.87[CEU][hapmap]
rs7833377	0.82[JPT][hapmap]
rs923058	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs923060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs931293	0.88[JPT][hapmap]
rs931294	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs9643685	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9643689	0.81[JPT][hapmap]
rs9643692	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs971926	0.85[CEU][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs993553	0.88[JPT][hapmap]

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	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50838600-50854400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:50838800-50853200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:50841600-50842200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:50841800-50842200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:50841800-50842200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:50841800-50842200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:50841800-50842200	Enhancers	Spleen	Spleen
8	chr8:50841800-50844000	Enhancers	Dnd41	blood
9	chr8:50842000-50842200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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