Variant report

Variant	rs2074389
Chromosome Location	chr4:110920724-110920725
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	SMC3	chr4:110919711-110921052	SK-N-SH	brain:	n/a	chr4:110920112-110920126
2	RAD21	chr4:110919346-110920730	SK-N-SH	brain:	n/a	chr4:110920111-110920130

No.	Distal block	Cell Line	Cell type
1	chr4:110918900..110921696-chr4:110925248..110926781,2	K562	blood:
2	chr4:110920067..110920971-chr4:111437280..111437927,2	K562	blood:
3	chr4:110920202..110921754-chr4:110921805..110924269,2	K562	blood:
4	chr4:110919693..110920830-chr4:111431515..111432376,4	K562	blood:

Variant related genes	Relation type
EGF	TF binding region
ENSG00000138798	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10434002	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs11098058	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11098063	0.99[ASN][1000 genomes]
rs11568853	0.89[CHB][hapmap]
rs11568901	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs11568927	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs11568941	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs11568946	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs11568975	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs11568990	0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11568991	0.94[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs11569003	0.94[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs11569102	1.00[ASN][1000 genomes]
rs11569103	1.00[ASN][1000 genomes]
rs11569129	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11569142	1.00[ASN][1000 genomes]
rs17041036	0.89[CHB][hapmap]
rs17041134	0.94[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1860131	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs2237043	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs2237046	0.81[ASN][1000 genomes]
rs2237047	0.89[CHB][hapmap]
rs2237048	0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2282786	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2298988	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs2298994	0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs2298995	0.94[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2298997	0.88[CHB][hapmap]
rs2299002	0.99[ASN][1000 genomes]
rs2302135	0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs3733628	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs3796943	0.87[CHB][hapmap]
rs3796949	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs3822285	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs59242631	0.82[ASN][1000 genomes]
rs9307346	0.88[CHB][hapmap];0.82[JPT][hapmap]

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110895000-110928600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:110901000-110929600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:110901400-110920800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:110906800-110920800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:110907000-110932400	Weak transcription	Psoas Muscle	Psoas
6	chr4:110907800-110927400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:110910400-110935200	Weak transcription	Pancreas	Pancrea
8	chr4:110910600-110929800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:110910800-110926800	Weak transcription	Fetal Heart	heart
10	chr4:110918600-110920800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:110919000-110935200	Weak transcription	Left Ventricle	heart
12	chr4:110920200-110921000	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr4:110920200-110921000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:110920200-110921000	Enhancers	GM12878-XiMat	blood
15	chr4:110920200-110921000	Enhancers	HepG2	liver
16	chr4:110920200-110921200	Enhancers	Liver	Liver
17	chr4:110920400-110921000	Enhancers	Fetal Intestine Small	intestine
18	chr4:110920400-110921000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr4:110920600-110921000	Enhancers	Fetal Intestine Large	intestine

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