Variant report

Variant	rs7301035
Chromosome Location	chr12:86241820-86241821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55736533	0.82[AFR][1000 genomes]
rs55856700	0.86[AFR][1000 genomes]
rs55926212	0.88[AFR][1000 genomes]
rs56225665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57434235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58363550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59121635	0.82[AFR][1000 genomes]
rs61561443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61930128	0.86[AFR][1000 genomes]
rs61930135	0.86[AFR][1000 genomes]
rs61930863	0.85[AFR][1000 genomes]
rs7132883	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7975072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1049443	chr12:86185887-86272493	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
5	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1036914	chr12:86201703-86272493	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86239000-86242600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:86240200-86242200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:86240400-86243800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:86240400-86244000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:86241400-86242400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:86241400-86242400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:86241400-86242800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:86241600-86242800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:86241800-86242400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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