Variant report

Variant	rs327518
Chromosome Location	chr7:127251792-127251793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127251080..127253485-chr7:127255790..127257541,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106331	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10232298	0.81[ASW][hapmap];0.83[GIH][hapmap];1.00[YRI][hapmap]
rs11976841	0.83[ASN][1000 genomes]
rs11976946	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs11977012	0.83[ASN][1000 genomes]
rs11977915	0.82[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs11980318	0.82[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs13236900	0.85[CHB][hapmap];0.94[CHD][hapmap]
rs16885524	0.83[ASN][1000 genomes]
rs17716738	0.82[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs2043982	0.83[ASN][1000 genomes]
rs2119452	0.83[ASN][1000 genomes]
rs2119453	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs2141259	0.85[CHB][hapmap];0.88[CHD][hapmap];0.83[ASN][1000 genomes]
rs2402866	0.85[CHB][hapmap];0.94[CHD][hapmap];0.83[ASN][1000 genomes]
rs2402867	0.83[ASN][1000 genomes]
rs3735643	0.80[AMR][1000 genomes]
rs3808105	0.83[ASN][1000 genomes]
rs3808106	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs3808107	0.83[ASN][1000 genomes]
rs3808112	0.83[ASN][1000 genomes]
rs3824006	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4728077	0.83[ASN][1000 genomes]
rs4731376	0.83[ASN][1000 genomes]
rs73234861	0.83[ASN][1000 genomes]
rs73234862	0.83[ASN][1000 genomes]
rs741599	0.85[CHB][hapmap];0.94[CHD][hapmap]
rs806217	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs972088	0.85[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs972089	0.83[ASN][1000 genomes]
rs972090	0.85[CHB][hapmap];0.87[CHD][hapmap];0.83[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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs327518	SND1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127249800-127259600	Weak transcription	Pancreas	Pancrea

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