Variant report

Variant	rs429583
Chromosome Location	chr17:63124303-63124304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63113189..63115743-chr17:63122387..63125115,2	MCF-7	breast:
2	chr17:63123878..63125578-chr17:63133344..63134913,2	MCF-7	breast:
3	chr17:62970667..62973276-chr17:63122835..63125688,2	K562	blood:
4	chr17:63118227..63121662-chr17:63122983..63126434,3	K562	blood:
5	chr17:63051599..63054345-chr17:63124102..63127989,4	MCF-7	breast:
6	chr17:63123841..63126817-chr17:63129572..63131096,2	K562	blood:
7	chr17:63117748..63120899-chr17:63122110..63128969,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120063	Chromatin interaction
ENSG00000214174	Chromatin interaction
ENSG00000108370	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1010271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853058	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853059	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079557	0.98[ASN][1000 genomes]
rs11079558	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079559	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12450928	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12451009	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.98[ASN][1000 genomes]
rs12603197	0.81[CEU][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1530352	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530353	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1554049	1.00[ASN][1000 genomes]
rs1561939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968573	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1968574	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28445249	0.98[ASN][1000 genomes]
rs299834	0.85[CEU][hapmap]
rs299835	1.00[CHB][hapmap]
rs299842	0.83[CEU][hapmap]
rs4581735	1.00[ASN][1000 genomes]
rs4791231	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7207632	0.98[ASN][1000 genomes]
rs7212241	1.00[ASN][1000 genomes]
rs7215779	0.98[ASN][1000 genomes]
rs7219245	1.00[ASN][1000 genomes]
rs7219799	1.00[ASN][1000 genomes]
rs7219809	1.00[ASN][1000 genomes]
rs8073607	0.98[ASN][1000 genomes]
rs8073924	1.00[ASN][1000 genomes]
rs8075179	1.00[ASN][1000 genomes]
rs8080637	1.00[ASN][1000 genomes]
rs8080746	1.00[ASN][1000 genomes]
rs8081971	1.00[ASN][1000 genomes]
rs9303478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs986090	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs9898914	1.00[ASN][1000 genomes]
rs9899243	1.00[ASN][1000 genomes]
rs9899401	1.00[ASN][1000 genomes]
rs9899628	1.00[ASN][1000 genomes]
rs9912432	1.00[ASN][1000 genomes]
rs9913707	1.00[ASN][1000 genomes]
rs9913725	1.00[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	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv527042	chr17:63123532-63128261	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs429583	SFRP4	trans	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63118800-63127000	Weak transcription	Spleen	Spleen
2	chr17:63119800-63133600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:63120200-63124400	Weak transcription	Aorta	Aorta
4	chr17:63120200-63126400	Weak transcription	K562	blood
5	chr17:63124000-63132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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