Variant report

Variant	rs56986198
Chromosome Location	chr2:73141698-73141699
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	CTBP2	chr2:73141553-73142255	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73141262..73144400-chr2:73149760..73152382,3	MCF-7	breast:
2	chr2:73135089..73137137-chr2:73140069..73142394,2	K562	blood:
3	chr2:73113887..73116277-chr2:73139179..73142024,2	MCF-7	breast:

Variant related genes	Relation type
EMX1	TF binding region
ENSG00000135638	Chromatin interaction
ENSG00000116096	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10185826	0.97[ASN][1000 genomes]
rs12473812	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008495	0.85[ASN][1000 genomes]
rs1898442	1.00[ASN][1000 genomes]
rs2077586	0.85[ASN][1000 genomes]
rs34419497	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746212	0.88[ASN][1000 genomes]
rs999494	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73140200-73141800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
2	chr2:73140200-73141800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:73140400-73141800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr2:73140400-73141800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr2:73140400-73141800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr2:73140400-73142000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr2:73140400-73142200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:73140400-73142200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr2:73140600-73141800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr2:73140800-73142400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:73140800-73142600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:73141000-73142000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr2:73141000-73142000	Bivalent Enhancer	Fetal Brain Female	brain
14	chr2:73141000-73142600	Bivalent Enhancer	Fetal Brain Male	brain
15	chr2:73141400-73141800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:73141400-73142800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
17	chr2:73141400-73143000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr2:73141600-73141800	Bivalent Enhancer	Lung	lung
19	chr2:73141600-73142200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr2:73141600-73142800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
21	chr2:73141600-73143600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood

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