Variant report

Variant	rs2406444
Chromosome Location	chr12:87231249-87231250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10745434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10858484	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10858485	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10858494	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10858496	0.87[CHB][hapmap]
rs10858497	0.87[CHB][hapmap]
rs10858498	0.87[CHB][hapmap]
rs11104117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11104119	0.87[CHB][hapmap]
rs11104120	0.81[ASN][1000 genomes]
rs2035718	0.87[CHB][hapmap]
rs2130177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs3924288	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4240768	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4463903	0.87[CHB][hapmap]
rs4842828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754127	chr12:86723232-87576932	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916862	chr12:86837694-87718558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899396	chr12:86863041-87276957	ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899397	chr12:86863041-87636831	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv916604	chr12:86966256-87275268	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1049580	chr12:86966497-87354132	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv559692	chr12:87098055-87263693	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv455682	chr12:87194510-87274871	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv868879	chr12:87207243-87578373	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv559693	chr12:87216285-87447757	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1049688	chr12:87219949-87412043	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1052693	chr12:87219949-87573582	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv559694	chr12:87224415-87274871	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv899401	chr12:87225050-87287609	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv899402	chr12:87225050-87287609	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv899403	chr12:87225050-87528020	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv2753551	chr12:87226774-87473947	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87229200-87232800	Active TSS	Fetal Brain Female	brain
2	chr12:87229400-87233200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:87230000-87232600	Active TSS	Fetal Brain Male	brain
4	chr12:87230000-87232800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:87230200-87232800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:87230600-87232600	Active TSS	Brain Anterior Caudate	brain
7	chr12:87230600-87232800	Active TSS	Brain Hippocampus Middle	brain
8	chr12:87230800-87231600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr12:87230800-87232800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:87230800-87232800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:87231000-87231400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:87231000-87231400	Enhancers	Aorta	Aorta
13	chr12:87231000-87233000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:87231200-87232800	Active TSS	Brain Cingulate Gyrus	brain
15	chr12:87231200-87233000	Enhancers	H1 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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