Variant report

Variant	rs728273
Chromosome Location	chr7:112068101-112068102
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112062460..112065017-chr7:112066479..112069244,3	MCF-7	breast:
2	chr7:112068002..112069879-chr7:112089599..112091338,2	K562	blood:
3	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
4	chr7:112065886..112068626-chr7:112090543..112092431,3	K562	blood:
5	chr7:112066485..112069249-chr7:112070711..112073624,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1015417	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1557698	0.83[CEU][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17492150	0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs2396537	0.95[CEU][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2520468	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2520469	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2520472	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2520479	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2520480	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2520481	0.96[CEU][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2520483	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2520484	0.95[CEU][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2523036	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2523043	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2708593	0.91[CEU][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs2708599	0.82[CEU][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36113101	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6977129	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9640740	0.85[CHD][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs991632	0.83[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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs728273	C7orf53	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112061000-112089800	Weak transcription	Aorta	Aorta
2	chr7:112063600-112070000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:112064200-112088400	Weak transcription	Psoas Muscle	Psoas
4	chr7:112064400-112068200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:112064400-112068600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:112064400-112074800	Weak transcription	A549	lung
7	chr7:112065800-112079800	Weak transcription	Pancreas	Pancrea
8	chr7:112066600-112068200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:112067000-112069600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:112067400-112068600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:112067600-112068800	Enhancers	Fetal Heart	heart

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