Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5302322..5304229-chr5:5305054..5307757,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10045494	0.91[CHB][hapmap]
rs10223220	1.00[ASN][1000 genomes]
rs11134102	0.95[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes]
rs11134105	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs11134106	1.00[MEX][hapmap]
rs11745231	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12109419	0.99[ASN][1000 genomes]
rs12109952	0.99[ASN][1000 genomes]
rs12110240	0.99[ASN][1000 genomes]
rs12518998	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs13187473	0.98[ASN][1000 genomes]
rs2913670	0.82[AMR][1000 genomes]
rs2964389	0.87[AMR][1000 genomes]
rs4478286	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs4701698	0.89[CHB][hapmap]
rs59338680	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62338254	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6555341	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs6555344	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs6555345	0.94[ASN][1000 genomes]
rs6555349	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs7701192	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs7704982	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7721079	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs966680	0.87[AMR][1000 genomes]
rs966681	0.80[CHB][hapmap];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1793859	chr5:5298350-5309672	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11134110	ADAMTS16	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5298800-5304000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:5302400-5304600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:5302400-5305000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:5302400-5305000	Weak transcription	Ovary	ovary
5	chr5:5302400-5305000	Weak transcription	NH-A	brain
6	chr5:5302400-5312400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:5302600-5304400	Weak transcription	Liver	Liver
8	chr5:5302600-5305200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:5302600-5307400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:5302800-5305000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:5302800-5307000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:5303200-5303800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:5303200-5304600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:5303200-5305400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

Quick Search: