Variant report

Variant	rs4147813
Chromosome Location	chr1:94574931-94574932
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94573501..94575707-chr1:94575840..94578707,2	MCF-7	breast:
2	chr1:94573941..94577939-chr1:94585857..94589392,3	K562	blood:
3	chr1:94573713..94576246-chr1:94579221..94581547,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198691	Chromatin interaction

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

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

rs_ID	r²[population]
rs17111203	1.00[CEU][hapmap]
rs3789448	1.00[CEU][hapmap]
rs72960478	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7524782	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7531875	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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	nsv871057	chr1:94513142-94577286	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871558	chr1:94544276-94576968	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv870555	chr1:94545160-94577744	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	esv1807674	chr1:94549175-94588191	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv871416	chr1:94566311-94635028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94564600-94591800	Weak transcription	Right Atrium	heart
2	chr1:94564800-94577400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:94567400-94585400	Weak transcription	Brain Anterior Caudate	brain
4	chr1:94570800-94576800	Weak transcription	HMEC	breast
5	chr1:94571000-94575400	Weak transcription	Fetal Lung	lung
6	chr1:94571000-94583000	Weak transcription	Pancreas	Pancrea
7	chr1:94571800-94576400	Weak transcription	Liver	Liver
8	chr1:94571800-94581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:94572400-94578600	Weak transcription	Fetal Kidney	kidney
10	chr1:94573000-94576600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:94573200-94575000	Weak transcription	Spleen	Spleen
12	chr1:94573600-94575000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:94573600-94576800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:94574200-94577200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:94574600-94579800	Enhancers	Placenta	Placenta
16	chr1:94574600-94583000	Weak transcription	Brain Substantia Nigra	brain
17	chr1:94574800-94575000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:94574800-94575200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:94574800-94575400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr1:94574800-94575800	Enhancers	Fetal Muscle Leg	muscle
21	chr1:94574800-94576400	Enhancers	Adipose Nuclei	Adipose
22	chr1:94574800-94576800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:94574800-94577200	Enhancers	Primary hematopoietic stem cells	blood

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