Variant report

Variant	rs7004442
Chromosome Location	chr8:49047878-49047879
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	chr8:48909455..48910993-chr8:49046960..49049925,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10086728	0.98[ASN][1000 genomes]
rs10095363	0.94[ASN][1000 genomes]
rs10099232	0.97[ASN][1000 genomes]
rs10099601	0.98[ASN][1000 genomes]
rs10104502	0.98[ASN][1000 genomes]
rs10105954	0.98[ASN][1000 genomes]
rs10107062	0.97[ASN][1000 genomes]
rs10107500	0.98[ASN][1000 genomes]
rs10107531	0.98[ASN][1000 genomes]
rs10109229	1.00[ASN][1000 genomes]
rs10110043	0.97[ASN][1000 genomes]
rs10112655	0.98[ASN][1000 genomes]
rs10216490	0.95[ASN][1000 genomes]
rs10429272	0.81[CHB][hapmap]
rs12544623	0.80[ASN][1000 genomes]
rs12675189	0.81[CHB][hapmap]
rs12708172	0.98[ASN][1000 genomes]
rs12708173	0.96[ASN][1000 genomes]
rs12708174	0.98[ASN][1000 genomes]
rs13248162	0.96[ASN][1000 genomes]
rs13250861	1.00[ASN][1000 genomes]
rs13251473	0.89[ASN][1000 genomes]
rs13263949	0.99[ASN][1000 genomes]
rs13270721	1.00[ASN][1000 genomes]
rs13276357	1.00[ASN][1000 genomes]
rs13277100	1.00[ASN][1000 genomes]
rs13279539	0.84[ASN][1000 genomes]
rs13281542	0.98[ASN][1000 genomes]
rs28421609	0.98[ASN][1000 genomes]
rs28459674	0.96[ASN][1000 genomes]
rs28489005	1.00[ASN][1000 genomes]
rs28539823	0.98[ASN][1000 genomes]
rs28678298	0.98[ASN][1000 genomes]
rs28678847	0.96[ASN][1000 genomes]
rs34075137	1.00[ASN][1000 genomes]
rs34172095	1.00[ASN][1000 genomes]
rs34608684	1.00[ASN][1000 genomes]
rs34850099	1.00[ASN][1000 genomes]
rs35040443	1.00[ASN][1000 genomes]
rs35088698	0.83[ASN][1000 genomes]
rs35578152	0.83[ASN][1000 genomes]
rs35637385	1.00[ASN][1000 genomes]
rs35748311	1.00[ASN][1000 genomes]
rs36004689	1.00[ASN][1000 genomes]
rs3923232	0.98[ASN][1000 genomes]
rs3934732	0.80[ASN][1000 genomes]
rs3934734	0.81[ASN][1000 genomes]
rs4130803	0.83[ASN][1000 genomes]
rs4242483	0.81[ASN][1000 genomes]
rs4242484	0.81[ASN][1000 genomes]
rs4242485	0.82[ASN][1000 genomes]
rs4263791	0.83[ASN][1000 genomes]
rs4373544	0.81[ASN][1000 genomes]
rs4380968	0.80[ASN][1000 genomes]
rs4475511	0.82[ASN][1000 genomes]
rs4527898	0.98[ASN][1000 genomes]
rs4534147	0.81[CHB][hapmap]
rs4543570	0.99[ASN][1000 genomes]
rs4610781	0.98[ASN][1000 genomes]
rs4873781	0.98[ASN][1000 genomes]
rs4873782	0.98[ASN][1000 genomes]
rs4873783	0.98[ASN][1000 genomes]
rs4873784	0.97[ASN][1000 genomes]
rs4873785	0.97[ASN][1000 genomes]
rs56683733	0.91[ASN][1000 genomes]
rs58040264	0.96[ASN][1000 genomes]
rs60129414	0.82[ASN][1000 genomes]
rs60275259	1.00[ASN][1000 genomes]
rs61146557	0.97[ASN][1000 genomes]
rs6474074	0.81[ASN][1000 genomes]
rs67331451	0.96[ASN][1000 genomes]
rs6986825	1.00[ASN][1000 genomes]
rs6990698	0.98[ASN][1000 genomes]
rs6994417	0.80[ASN][1000 genomes]
rs6994790	0.98[ASN][1000 genomes]
rs6998272	0.93[ASN][1000 genomes]
rs7001305	0.93[ASN][1000 genomes]
rs7004828	0.96[ASN][1000 genomes]
rs7009463	0.93[ASN][1000 genomes]
rs7011426	0.98[ASN][1000 genomes]
rs7014393	0.93[ASN][1000 genomes]
rs73571663	0.99[ASN][1000 genomes]
rs7815183	0.81[CHB][hapmap];0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs7822672	1.00[ASN][1000 genomes]
rs7827365	0.99[ASN][1000 genomes]
rs7831644	0.99[ASN][1000 genomes]
rs7838513	0.91[ASN][1000 genomes]
rs9792196	1.00[ASN][1000 genomes]
rs9792312	1.00[ASN][1000 genomes]
rs9792353	1.00[ASN][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	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1033298	chr8:48965133-49048832	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49043600-49049000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:49043800-49049600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:49044600-49051600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:49044800-49048400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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