Variant report

Variant	rs6472839
Chromosome Location	chr8:50859728-50859729
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	chr8:50858643..50860623-chr8:50860794..50862890,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10096242	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10504093	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957679	0.84[EUR][1000 genomes]
rs10957681	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10957682	0.84[EUR][1000 genomes]
rs1157932	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11773979	1.00[ASN][1000 genomes]
rs11776388	0.88[EUR][1000 genomes]
rs11777957	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11778027	0.88[EUR][1000 genomes]
rs11782772	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11783503	0.88[EUR][1000 genomes]
rs11783607	0.82[AMR][1000 genomes]
rs11783631	0.88[EUR][1000 genomes]
rs11784278	0.88[EUR][1000 genomes]
rs11784738	0.88[EUR][1000 genomes]
rs11786880	0.92[EUR][1000 genomes]
rs11787050	0.84[EUR][1000 genomes]
rs12542536	0.89[EUR][1000 genomes]
rs12545695	1.00[EUR][1000 genomes]
rs12547245	0.92[EUR][1000 genomes]
rs13264385	0.92[ASN][1000 genomes]
rs1344326	0.88[EUR][1000 genomes]
rs1385980	1.00[EUR][1000 genomes]
rs1486258	0.93[ASN][1000 genomes]
rs1486263	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1552377	0.92[EUR][1000 genomes]
rs1552379	1.00[EUR][1000 genomes]
rs1552380	0.81[ASN][1000 genomes]
rs1586364	0.84[EUR][1000 genomes]
rs16913687	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16914039	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs170331	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1843607	0.94[ASN][1000 genomes]
rs2170953	1.00[ASN][1000 genomes]
rs2247368	0.80[ASN][1000 genomes]
rs2385554	0.93[ASN][1000 genomes]
rs2385696	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2385697	1.00[ASN][1000 genomes]
rs2449960	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2449961	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2450286	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2450287	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2450290	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28869911	0.82[ASN][1000 genomes]
rs318850	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs318851	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs318853	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs318858	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs318859	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs318861	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs318874	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs379601	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3812426	0.91[ASN][1000 genomes]
rs404309	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs412929	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4242456	0.88[EUR][1000 genomes]
rs4460388	0.86[ASN][1000 genomes]
rs451034	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs453906	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4634657	0.84[EUR][1000 genomes]
rs4873118	0.84[EUR][1000 genomes]
rs4873119	0.84[EUR][1000 genomes]
rs4873120	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873121	0.88[EUR][1000 genomes]
rs4873392	0.84[EUR][1000 genomes]
rs4873401	0.88[EUR][1000 genomes]
rs55780592	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55879210	0.84[EUR][1000 genomes]
rs56040457	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59240550	0.88[EUR][1000 genomes]
rs59679832	0.88[EUR][1000 genomes]
rs6472838	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984738	0.82[ASN][1000 genomes]
rs6988440	0.84[EUR][1000 genomes]
rs7002291	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7002909	0.82[ASN][1000 genomes]
rs7003221	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7004973	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7008449	1.00[EUR][1000 genomes]
rs73676077	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7388392	0.92[EUR][1000 genomes]
rs7828900	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs923060	0.97[ASN][1000 genomes]
rs9643685	1.00[ASN][1000 genomes]
rs967107	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs974740	0.80[EUR][1000 genomes]
rs974742	0.84[EUR][1000 genomes]
rs993553	0.88[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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