Variant report

Variant	rs7959675
Chromosome Location	chr12:39520651-39520652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11170818	0.97[ASN][1000 genomes]
rs12227706	0.92[ASN][1000 genomes]
rs12817660	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1449844	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463209	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500524	0.82[ASN][1000 genomes]
rs56236112	0.82[ASN][1000 genomes]
rs61939206	0.82[ASN][1000 genomes]
rs718150	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832374	chr12:39468434-39630369	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899010	chr12:39512724-39594506	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv899011	chr12:39517706-39594506	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39517000-39523000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:39517400-39523000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:39517800-39523200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:39518400-39521200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:39518400-39521400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:39518400-39523000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:39518600-39520800	Weak transcription	HUVEC	blood vessel
8	chr12:39518800-39523000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:39519600-39521000	Weak transcription	HMEC	breast
10	chr12:39519800-39520800	Weak transcription	NHEK	skin
11	chr12:39519800-39521200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:39519800-39523400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:39520600-39521600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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

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