Variant report

Variant	rs9643685
Chromosome Location	chr8:50861431-50861432
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	chr8:50858643..50860623-chr8:50860794..50862890,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10096242	0.82[ASN][1000 genomes]
rs10112215	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10112818	0.81[AFR][1000 genomes]
rs1021202	0.82[EUR][1000 genomes]
rs10504093	0.99[ASN][1000 genomes]
rs10957681	0.82[ASN][1000 genomes]
rs10957739	0.82[EUR][1000 genomes]
rs10957741	0.82[EUR][1000 genomes]
rs1157932	0.99[ASN][1000 genomes]
rs11773979	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777957	0.81[ASN][1000 genomes]
rs11781675	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11782772	0.82[ASN][1000 genomes]
rs12541061	0.82[EUR][1000 genomes]
rs12541363	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12681482	0.81[EUR][1000 genomes]
rs13264385	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13273334	0.81[EUR][1000 genomes]
rs1484805	0.82[EUR][1000 genomes]
rs1484813	0.82[EUR][1000 genomes]
rs1486258	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1486263	0.82[ASN][1000 genomes]
rs1552378	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1552380	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs167631	0.82[EUR][1000 genomes]
rs16914039	0.82[ASN][1000 genomes]
rs170331	0.82[ASN][1000 genomes]
rs1843607	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs186455	0.81[EUR][1000 genomes]
rs2015043	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2086888	0.82[EUR][1000 genomes]
rs2129161	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2129169	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2170953	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220157	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2247368	0.80[ASN][1000 genomes]
rs2385554	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385696	0.99[ASN][1000 genomes]
rs2385697	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385698	0.82[EUR][1000 genomes]
rs2385700	0.81[EUR][1000 genomes]
rs2449960	0.80[ASN][1000 genomes]
rs2449961	0.91[ASN][1000 genomes]
rs2450286	0.82[ASN][1000 genomes]
rs2450287	0.83[ASN][1000 genomes]
rs2450290	0.83[ASN][1000 genomes]
rs28869911	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs318850	0.80[ASN][1000 genomes]
rs318851	0.88[ASN][1000 genomes]
rs318853	0.91[ASN][1000 genomes]
rs318858	0.82[ASN][1000 genomes]
rs318859	0.82[ASN][1000 genomes]
rs318861	0.82[ASN][1000 genomes]
rs318874	0.82[ASN][1000 genomes]
rs318913	0.82[EUR][1000 genomes]
rs318915	0.82[EUR][1000 genomes]
rs318918	0.81[EUR][1000 genomes]
rs318920	0.81[EUR][1000 genomes]
rs318923	0.82[EUR][1000 genomes]
rs379601	0.87[ASN][1000 genomes]
rs3812426	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs404309	0.87[ASN][1000 genomes]
rs412929	0.86[ASN][1000 genomes]
rs4460388	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs451034	0.87[ASN][1000 genomes]
rs453906	0.82[ASN][1000 genomes]
rs4873120	0.96[ASN][1000 genomes]
rs55780592	0.99[ASN][1000 genomes]
rs6472838	0.99[ASN][1000 genomes]
rs6472839	1.00[ASN][1000 genomes]
rs6984738	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7002291	0.82[ASN][1000 genomes]
rs7002909	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7003221	0.82[ASN][1000 genomes]
rs7004973	0.82[ASN][1000 genomes]
rs7010915	0.83[EUR][1000 genomes]
rs7014520	0.82[EUR][1000 genomes]
rs73676077	0.80[ASN][1000 genomes]
rs7828900	0.95[ASN][1000 genomes]
rs7833019	0.82[EUR][1000 genomes]
rs923058	0.82[EUR][1000 genomes]
rs923060	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs931294	0.83[EUR][1000 genomes]
rs9643692	0.82[EUR][1000 genomes]
rs967107	0.80[ASN][1000 genomes]
rs971926	0.83[AMR][1000 genomes];0.84[EUR][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	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50855200-50875200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:50858400-50865000	Weak transcription	Spleen	Spleen
3	chr8:50858400-50865800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:50858400-50870200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:50858400-50871600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:50860400-50875400	Weak transcription	Fetal Intestine Small	intestine

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