Variant report

Variant	rs73416957
Chromosome Location	chr12:120808307-120808308
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr12:120807784-120808676	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr12:120807683-120808644	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120807836..120809663-chr12:120875850..120878030,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRT4-5	chr12:120807162-120809425	NONHSAT031167

Variant related genes	Relation type
RPS27P25	TF binding region
MSI1	TF binding region
ENSG00000111775	Chromatin interaction
ENSG00000111780	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1732843	1.00[EUR][1000 genomes]
rs2701639	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701640	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59518937	1.00[AMR][1000 genomes]
rs73416940	1.00[AMR][1000 genomes]
rs73416955	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9657928	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
3	esv14211	chr12:120801254-120809932	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv560437	chr12:120803783-120809590	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3393755	chr12:120805594-120808342	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120807200-120809000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:120807400-120808600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:120807400-120809000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
4	chr12:120807600-120808400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:120807800-120808400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr12:120807800-120808400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:120807800-120808400	Bivalent Enhancer	Fetal Lung	lung
8	chr12:120807800-120808600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr12:120807800-120808800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
10	chr12:120807800-120809200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr12:120807800-120809200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
12	chr12:120807800-120809200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:120807800-120814000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:120808000-120808400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:120808000-120808400	Active TSS	Brain Germinal Matrix	brain
16	chr12:120808000-120808400	Enhancers	Fetal Brain Male	brain
17	chr12:120808000-120808600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:120808000-120808800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr12:120808000-120808800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
20	chr12:120808200-120808400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr12:120808200-120808400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr12:120808200-120808600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:120808200-120808600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:120808200-120808800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
25	chr12:120808200-120809000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:120808200-120809200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:120808200-120809400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:120808200-120809800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:120808200-120809800	Weak transcription	Right Atrium	heart

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