Variant report

Variant	rs12540762
Chromosome Location	chr7:128073326-128073327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128047282..128051646-chr7:128071407..128074955,4	MCF-7	breast:
2	chr7:128070900..128073511-chr7:128092438..128094017,2	K562	blood:
3	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
4	chr7:128071934..128079559-chr7:128081793..128086197,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240758	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000238590	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1048531	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10954185	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11763326	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11764599	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11766743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11769087	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11769168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769333	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.90[MKK][hapmap]
rs11771063	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11771514	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540060	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12540808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1864232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288550	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2288554	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35501542	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3793164	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55706726	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57124454	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57715170	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58727049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481099	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481100	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481103	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481115	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481116	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481123	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481124	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12540762	GPR37	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128070200-128074800	Enhancers	Placenta	Placenta
3	chr7:128071200-128074800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:128071800-128074400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:128071800-128078600	Weak transcription	Adipose Nuclei	Adipose
6	chr7:128072000-128073600	Enhancers	A549	lung
7	chr7:128072200-128074600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:128072200-128075000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:128072400-128075400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:128072600-128074800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:128072600-128075000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:128072600-128075400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:128072600-128076200	Enhancers	HepG2	liver
14	chr7:128072800-128075000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:128072800-128075000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:128073000-128073600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:128073000-128073800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:128073000-128074000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:128073000-128075000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:128073000-128075000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:128073200-128073400	Weak transcription	Esophagus	oesophagus
22	chr7:128073200-128074800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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