Variant report

Variant	rs1994809
Chromosome Location	chr4:125358859-125358860
allele	A/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	SIN3AK20	chr4:125358780-125359537	MCF-7	breast:	n/a	n/a
2	GATA3	chr4:125358798-125359523	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr4:125358818-125359473	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:125358838..125361520-chr4:125623081..125625464,2	MCF-7	breast:
2	chr4:125355738..125360405-chr4:125631320..125634850,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248506	TF binding region
ENSG00000151458	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11098750	0.92[ASN][1000 genomes]
rs11098751	0.92[ASN][1000 genomes]
rs17008132	0.94[ASN][1000 genomes]
rs17008138	0.94[ASN][1000 genomes]
rs17008148	0.89[ASN][1000 genomes]
rs17008161	0.94[ASN][1000 genomes]
rs2390686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55779229	0.92[ASN][1000 genomes]
rs72676695	0.87[ASN][1000 genomes]
rs72678414	0.92[ASN][1000 genomes]
rs72678423	0.92[ASN][1000 genomes]
rs72678424	0.92[ASN][1000 genomes]
rs72678453	0.94[ASN][1000 genomes]
rs72678455	0.94[ASN][1000 genomes]
rs72678461	0.94[ASN][1000 genomes]
rs72678463	0.94[ASN][1000 genomes]
rs72678465	0.91[ASN][1000 genomes]
rs72678468	0.94[ASN][1000 genomes]
rs72678469	0.94[ASN][1000 genomes]
rs72678470	0.94[ASN][1000 genomes]
rs72678481	0.94[ASN][1000 genomes]
rs7661156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7674379	0.94[ASN][1000 genomes]
rs7692715	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv432624	chr4:125013395-125367740	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv998024	chr4:125019384-125380876	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537241	chr4:125019384-125380876	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1015049	chr4:125037090-125393067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv879880	chr4:125174817-125494547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2760890	chr4:125273456-125466931	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv879881	chr4:125280852-125448288	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3339982	chr4:125357396-125380067	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125350800-125359000	Weak transcription	Right Atrium	heart
2	chr4:125354400-125359000	Weak transcription	Stomach Mucosa	stomach
3	chr4:125356000-125359000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:125357200-125360200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:125358000-125359000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:125358000-125370000	Weak transcription	Gastric	stomach
7	chr4:125358800-125359200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:125358800-125359600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr4:125358800-125360000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:125358800-125360000	Enhancers	NHEK	skin
11	chr4:125358800-125360200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:125358800-125360400	Enhancers	HUVEC	blood vessel
13	chr4:125358800-125360800	Enhancers	Muscle Satellite Cultured Cells	--

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