Variant report

Variant	rs1843607
Chromosome Location	chr8:50859769-50859770
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: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10112215	0.80[EUR][1000 genomes]
rs10504093	0.92[ASN][1000 genomes]
rs1157932	0.92[ASN][1000 genomes]
rs11773979	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11781675	0.85[EUR][1000 genomes]
rs12541363	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13264385	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1486258	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1552378	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1552380	0.85[AFR][1000 genomes]
rs2015043	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2129161	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2129169	0.82[EUR][1000 genomes]
rs2170953	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2220157	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2385554	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2385696	0.92[ASN][1000 genomes]
rs2385697	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2449961	0.85[ASN][1000 genomes]
rs28869911	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs318851	0.82[ASN][1000 genomes]
rs318853	0.85[ASN][1000 genomes]
rs379601	0.81[ASN][1000 genomes]
rs3812426	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs404309	0.81[ASN][1000 genomes]
rs4460388	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs451034	0.81[ASN][1000 genomes]
rs4873120	0.90[ASN][1000 genomes]
rs55780592	0.92[ASN][1000 genomes]
rs6472838	0.92[ASN][1000 genomes]
rs6472839	0.94[ASN][1000 genomes]
rs6984738	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7002909	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7010915	0.80[EUR][1000 genomes]
rs7828900	0.88[ASN][1000 genomes]
rs923060	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs931294	0.80[EUR][1000 genomes]
rs9643685	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs971926	0.80[AMR][1000 genomes];0.82[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	chr8:50858800-50860000	Weak transcription	Fetal Intestine Large	intestine

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