Variant report

Variant	rs543348772
Chromosome Location	chr12:39518314-39518315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39515800-39519600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:39516000-39518400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:39516000-39518600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:39516000-39519600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:39516000-39519600	Enhancers	Placenta	Placenta
6	chr12:39516200-39519800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:39516400-39518400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:39516400-39518600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:39516400-39518600	Enhancers	NHEK	skin
10	chr12:39516600-39518400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:39516600-39519600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:39516800-39519400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:39517000-39518600	Enhancers	HUVEC	blood vessel
14	chr12:39517000-39518800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:39517000-39523000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:39517400-39518800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:39517400-39523000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:39517800-39519200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:39517800-39519200	Weak transcription	HMEC	breast
20	chr12:39517800-39523200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:39518200-39518400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:39518200-39518400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:39518200-39518800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:39518200-39519600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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