Variant report

Variant	rs2007743
Chromosome Location	chr20:23039041-23039042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23038451..23039596-chr20:23181254..23182191,4	MCF-7	breast:
2	chr20:23038561..23039268-chr20:23321299..23322179,2	MCF-7	breast:
3	chr20:23033798..23035725-chr20:23039013..23041466,2	MCF-7	breast:
4	chr20:23037834..23043617-chr20:23045683..23049258,6	MCF-7	breast:
5	chr20:23038702..23039550-chr20:23145856..23146435,3	MCF-7	breast:
6	chr20:23029682..23031729-chr20:23036932..23039291,2	K562	blood:
7	chr20:23030229..23033770-chr20:23036359..23041230,6	K562	blood:
8	chr20:23038571..23039568-chr20:23300787..23301400,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1040588	0.83[CHB][hapmap];0.87[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1821119	0.88[EUR][1000 genomes]
rs1835702	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1835703	0.85[EUR][1000 genomes]
rs1835704	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1998079	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1998080	0.88[CEU][hapmap];0.92[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs2019632	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144939	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2207110	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2255937	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2424503	0.92[CEU][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2424509	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424510	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2424511	0.88[EUR][1000 genomes]
rs2567619	0.90[EUR][1000 genomes]
rs2749813	0.88[CEU][hapmap];0.90[GIH][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs2749817	0.89[EUR][1000 genomes]
rs6036291	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048519	0.89[CEU][hapmap];0.85[TSI][hapmap];0.90[YRI][hapmap];0.87[EUR][1000 genomes]
rs6048526	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048533	0.90[EUR][1000 genomes]
rs6076016	0.92[CEU][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6082997	0.89[EUR][1000 genomes]
rs6083000	0.87[EUR][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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2007743	THBD	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23032600-23041800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:23032800-23041400	Weak transcription	Spleen	Spleen
3	chr20:23033400-23040200	Weak transcription	Placenta	Placenta
4	chr20:23038400-23046600	Enhancers	Fetal Lung	lung

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