Variant report

Variant	rs7582368
Chromosome Location	chr2:95665733-95665734
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:95660407..95662839-chr2:95663627..95666532,2	MCF-7	breast:
2	chr2:95655740..95658689-chr2:95665291..95668285,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235186	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10172167	0.86[CEU][hapmap]
rs1875402	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap]
rs2291991	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2320619	0.82[EUR][1000 genomes]
rs2320620	0.95[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs3105098	0.85[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3105099	0.90[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap]
rs3105101	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs3105104	0.95[CEU][hapmap];0.85[CHB][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap]
rs3105105	0.90[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap]
rs3112225	0.95[CEU][hapmap];0.80[CHB][hapmap]
rs3112228	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap]
rs3112229	0.80[CEU][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs3112230	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap]
rs3112982	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[EUR][1000 genomes]
rs3112983	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[EUR][1000 genomes]
rs3112984	0.94[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs3112985	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs3112986	0.95[CEU][hapmap];0.85[CHB][hapmap];0.83[EUR][1000 genomes]
rs3112987	0.83[EUR][1000 genomes]
rs3112995	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs3112996	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap]
rs3112997	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap]
rs3113002	1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap]
rs4241315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4555374	0.89[ASW][hapmap];0.86[CEU][hapmap];0.83[GIH][hapmap];0.80[MKK][hapmap];0.86[TSI][hapmap]
rs4564804	0.89[ASW][hapmap];0.86[CEU][hapmap];0.80[MKK][hapmap];0.81[TSI][hapmap]
rs4854241	0.90[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4854243	0.83[EUR][1000 genomes]
rs6708474	0.85[CEU][hapmap]
rs7560571	0.91[CHB][hapmap]
rs7565772	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7585473	0.81[EUR][1000 genomes]
rs872580	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9324212	0.86[CEU][hapmap]

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	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1003666	chr2:95618109-95772924	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7582368	ZNF514	cis	multi-tissue	Pritchard
rs7582368	KCNIP3	cis	cerebellum	SCAN
rs7582368	CYP4F32P	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95664400-95690600	Weak transcription	Right Atrium	heart
2	chr2:95664600-95665800	Weak transcription	Fetal Heart	heart
3	chr2:95664600-95671600	Weak transcription	Pancreas	Pancrea
4	chr2:95664600-95673000	Weak transcription	Spleen	Spleen
5	chr2:95664800-95686200	Enhancers	Fetal Thymus	thymus
6	chr2:95665000-95667000	Weak transcription	Thymus	Thymus
7	chr2:95665600-95670200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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