Variant report

Variant	rs10265001
Chromosome Location	chr7:140665521-140665522
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	chr7:140664931..140667594-chr7:140670729..140673169,2	K562	blood:
2	chr7:140661687..140663739-chr7:140664738..140669110,3	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10240888	0.89[ASN][1000 genomes]
rs10255167	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10268118	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1044927	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10952364	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12538296	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13234490	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs13236223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236704	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs13438609	0.93[ASN][1000 genomes]
rs1476816	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3805116	0.85[CHB][hapmap]
rs3852286	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3864527	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs38715	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs38717	0.82[ASN][1000 genomes]
rs38718	0.80[ASN][1000 genomes]
rs38720	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs38722	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs38723	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs38726	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs38734	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs38739	1.00[CHB][hapmap]
rs38740	1.00[CHB][hapmap]
rs4726225	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs488795	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs512509	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs528957	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs557962	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs60164573	0.93[ASN][1000 genomes]
rs62485391	0.93[ASN][1000 genomes]
rs62485451	0.93[ASN][1000 genomes]
rs62485452	0.84[ASN][1000 genomes]
rs6464217	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6464260	0.85[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs6662	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6971577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7801518	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs801127	1.00[CHB][hapmap]
rs9274	1.00[CHB][hapmap]
rs9800952	0.80[AMR][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	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10265001	TMEM178B	cis	Esophagus Mucosa	GTEx
rs10265001	MRPS33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140657200-140669000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:140665200-140667600	Enhancers	Fetal Intestine Large	intestine
3	chr7:140665400-140666400	Weak transcription	Fetal Intestine Small	intestine
4	chr7:140665400-140666400	Weak transcription	HepG2	liver

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