Variant report

Variant	rs7012122
Chromosome Location	chr8:62330609-62330610
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	chr8:62315268..62317052-chr8:62329952..62331844,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10107557	0.84[JPT][hapmap]
rs10504327	1.00[MEX][hapmap]
rs13256758	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13258160	0.91[CEU][hapmap]
rs13270887	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16927347	0.84[JPT][hapmap]
rs17198387	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17201182	1.00[MEX][hapmap]
rs17788825	0.83[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs17788873	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs17789341	1.00[MEX][hapmap]
rs17790020	0.82[CEU][hapmap]
rs2279573	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs28493454	0.93[EUR][1000 genomes]
rs34736794	0.90[EUR][1000 genomes]
rs35328313	0.87[EUR][1000 genomes]
rs4487757	0.84[JPT][hapmap]
rs71525451	0.90[EUR][1000 genomes]
rs71525452	0.87[EUR][1000 genomes]
rs7821162	1.00[CEU][hapmap]
rs7824533	0.91[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap]
rs7830314	0.83[CEU][hapmap];0.90[GIH][hapmap];0.84[JPT][hapmap];0.83[TSI][hapmap]
rs7831797	0.91[CEU][hapmap]
rs7839684	1.00[MEX][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	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv831336	chr8:62188396-62364873	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv6223	chr8:62294904-62339988	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62310400-62368200	Weak transcription	Fetal Brain Female	brain
2	chr8:62326400-62332400	Enhancers	Adipose Nuclei	Adipose
3	chr8:62329800-62331400	Weak transcription	Brain Anterior Caudate	brain
4	chr8:62330200-62331400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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