Variant report

Variant	rs4957781
Chromosome Location	chr5:108014484-108014485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:108013253..108015897-chr5:108063039..108065514,2	K562	blood:
2	chr5:108010422..108012038-chr5:108013854..108016187,2	K562	blood:
3	chr5:108013986..108016606-chr5:108083004..108086499,3	MCF-7	breast:
4	chr5:108007837..108010584-chr5:108014407..108016726,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272523	Chromatin interaction
ENSG00000151422	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10039131	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10477427	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10477928	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11952230	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11952282	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12719095	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1355080	0.81[ASN][1000 genomes]
rs1508779	0.85[ASN][1000 genomes]
rs1508780	0.85[ASN][1000 genomes]
rs2940519	0.82[ASN][1000 genomes]
rs2963050	0.87[ASN][1000 genomes]
rs2963051	0.87[ASN][1000 genomes]
rs35310669	0.85[ASN][1000 genomes]
rs35842524	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4623197	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4957562	0.85[ASN][1000 genomes]
rs4957563	0.85[ASN][1000 genomes]
rs4957777	0.82[ASN][1000 genomes]
rs56915053	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62361278	0.85[ASN][1000 genomes]
rs7703883	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7704020	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7704155	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7704581	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7735104	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7737443	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9968588	0.85[ASN][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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1024076	chr5:107991426-108028223	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1034158	chr5:107995509-108018395	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv523619	chr5:107999505-108016782	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108007000-108034800	Weak transcription	Right Atrium	heart
2	chr5:108014000-108016800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:108014200-108014600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr5:108014200-108014800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:108014200-108016600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:108014200-108016800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:108014200-108017000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:108014200-108020800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:108014400-108016600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:108014400-108017200	Weak transcription	GM12878-XiMat	blood

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