Variant report

Variant	rs2701639
Chromosome Location	chr12:120808736-120808737
allele	C/T
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	YY1	chr12:120808558-120808926	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr12:120808354-120809067	H1-hESC	embryonic stem cell:	n/a	chr12:120808716-120808727 chr12:120808511-120808523 chr12:120808511-120808523 chr12:120808706-120808720 chr12:120808538-120808552
3	POLR2A	chr12:120808551-120809220	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
MSI1	TF binding region
RPS27P25	TF binding region
ENSG00000111775	Chromatin interaction
ENSG00000111780	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1732843	1.00[EUR][1000 genomes]
rs2701640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847970	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416957	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657928	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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

No data

Chromatin state (count:22 , 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	chr12:120807400-120809000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
3	chr12:120807800-120808800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
4	chr12:120807800-120809200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
5	chr12:120807800-120809200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
6	chr12:120807800-120809200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:120807800-120814000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:120808000-120808800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr12:120808000-120808800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
10	chr12:120808200-120808800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
11	chr12:120808200-120809000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:120808200-120809200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:120808200-120809400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:120808200-120809800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:120808200-120809800	Weak transcription	Right Atrium	heart
16	chr12:120808400-120808800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr12:120808400-120808800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr12:120808400-120809000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
19	chr12:120808400-120809200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:120808600-120808800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:120808600-120809600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:120808600-120813800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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