Variant report

Variant	rs12530700
Chromosome Location	chr7:33459736-33459737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10225173	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10251775	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12155002	0.92[ASN][1000 genomes]
rs12534242	1.00[CHB][hapmap]
rs12536596	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12536844	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12537512	0.87[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12537875	0.85[ASN][1000 genomes]
rs12538649	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1419912	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1420154	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17396870	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17724206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17725673	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17726934	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1978333	0.88[ASN][1000 genomes]
rs2392242	0.82[JPT][hapmap]
rs28789535	0.92[ASN][1000 genomes]
rs4720119	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs62451190	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62451222	0.81[ASN][1000 genomes]
rs62451225	0.81[ASN][1000 genomes]
rs6946608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7789007	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9768604	1.00[CHB][hapmap]
rs9886232	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9886325	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[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	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv916660	chr7:33272493-33506384	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830944	chr7:33389892-33549882	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33454800-33476800	Weak transcription	Aorta	Aorta
2	chr7:33455200-33462600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:33458200-33461200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:33458200-33462600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:33458200-33466400	Weak transcription	Esophagus	oesophagus
6	chr7:33458400-33462600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:33458400-33465000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:33458400-33465000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:33458800-33462600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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