Variant report

Variant	rs13238224
Chromosome Location	chr7:126134075-126134076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:126133705-126138790..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10230565	0.90[EUR][1000 genomes]
rs10255674	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs10265534	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs12154383	0.90[EUR][1000 genomes]
rs12155435	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs12706734	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706735	0.94[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13225837	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13237736	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13237792	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242782	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13243571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1990247	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs2066902	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs2098033	0.89[EUR][1000 genomes]
rs2299456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34843956	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35271256	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6946312	1.00[YRI][hapmap]
rs73224943	0.90[EUR][1000 genomes]
rs7807141	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1023465	chr7:125873329-126191422	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1028204	chr7:125897362-126225444	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv539118	chr7:125897362-126225444	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1033349	chr7:126010250-126168918	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv436533	chr7:126130550-126135725	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv971542	chr7:126134066-126141100	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126133200-126136600	Enhancers	Fetal Heart	heart
2	chr7:126133600-126134400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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