Variant report

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:40720101-40723328	K562	blood:	n/a	n/a
2	POLR2A	chr21:40716164-40723345	K562	blood:	n/a	n/a
3	POLR2A	chr21:40720187-40723493	K562	blood:	n/a	n/a
4	IRF1	chr21:40723017-40723268	K562	blood:	n/a	n/a
5	POLR2A	chr21:40719490-40723323	GM12878	blood:	n/a	n/a
6	POLR2A	chr21:40720192-40723374	K562	blood:	n/a	n/a
7	POLR2A	chr21:40719461-40723355	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40635630..40638349-chr21:40720638..40723544,2	MCF-7	breast:
2	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
3	chr21:40550592..40552295-chr21:40721972..40724130,2	K562	blood:
4	chr21:40723013..40725443-chr21:40734759..40737536,2	K562	blood:
5	chr21:40650772..40652472-chr21:40721952..40724679,2	K562	blood:
6	chr21:40717517..40723762-chr21:40756232..40761980,18	MCF-7	breast:
7	chr21:40716662..40723444-chr21:40748337..40754328,16	MCF-7	breast:
8	chr21:40719359..40724848-chr21:40748806..40754741,7	MCF-7	breast:
9	chr21:40716442..40724032-chr21:40756185..40762223,18	K562	blood:
10	chr21:40721779..40723568-chr21:40810701..40813342,2	MCF-7	breast:
11	chr21:40719750..40724652-chr21:40748317..40754270,9	K562	blood:
12	chr21:40721702..40724513-chr21:40734759..40737368,2	K562	blood:
13	chr21:40717665..40724454-chr21:40756191..40763334,22	MCF-7	breast:
14	chr21:40553821..40557385-chr21:40719764..40724370,6	K562	blood:
15	chr21:40719238..40723494-chr21:40813785..40819496,7	MCF-7	breast:
16	chr21:40716079..40725440-chr21:40756737..40764615,26	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11911475	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12106311	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13433458	0.88[ASN][1000 genomes]
rs1554933	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1554934	0.90[ASN][1000 genomes]
rs2239384	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2735313	0.86[ASN][1000 genomes]
rs2776311	0.83[JPT][hapmap]
rs2836990	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2836992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836994	0.83[CHB][hapmap]
rs2854727	0.83[GIH][hapmap];0.83[JPT][hapmap]
rs28550626	0.81[ASN][1000 genomes]
rs28629334	0.88[ASN][1000 genomes]
rs3761372	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs59805871	0.89[ASN][1000 genomes]
rs6517522	0.83[JPT][hapmap]
rs7279434	0.88[ASN][1000 genomes]
rs741795	0.83[JPT][hapmap]
rs8132324	0.81[ASN][1000 genomes]
rs8132993	0.83[GIH][hapmap]
rs9974653	0.90[ASN][1000 genomes]
rs9983270	0.83[ASN][1000 genomes]
rs9983368	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9983594	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs4818027	WRB	cis	Adipose Subcutaneous	GTEx
rs4818027	LOC643790	trans	multi-tissue	Pritchard
rs4818027	WRB	cis	multi-tissue	Pritchard
rs4818027	BRWD1	cis	multi-tissue	Pritchard
rs4818027	WRB	cis	parietal	SCAN
rs4818027	HMGN1	Cis_1M	lymphoblastoid	RTeQTL
rs4818027	SH3BGR	cis	Artery Tibial	GTEx
rs4818027	HMGN1	cis	lymphoblastoid	seeQTL
rs4818027	HMGN1	cis	multi-tissue	Pritchard
rs4818027	BRWD1	cis	parietal	SCAN
rs4818027	WRB	cis	Artery Tibial	GTEx
rs4818027	WRB	cis	Thyroid	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40721800-40725400	Weak transcription	NHLF	lung
2	chr21:40722400-40723200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr21:40722400-40723200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr21:40722400-40723600	Flanking Active TSS	K562	blood
5	chr21:40722800-40723200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr21:40722800-40723400	Enhancers	HepG2	liver
7	chr21:40723000-40723200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr21:40723000-40724000	Weak transcription	Right Atrium	heart
9	chr21:40723000-40725000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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