Variant report

Variant	rs3811800
Chromosome Location	chr4:100494553-100494554
allele	A/G
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	FOXA2	chr4:100493553-100494761	HepG2	liver:	n/a	n/a
2	STAT3	chr4:100494072-100494603	MCF10A-Er-Src	breast:	n/a	chr4:100494129-100494138

No.	Distal block	Cell Line	Cell type
1	chr4:100483825..100487294-chr4:100492777..100496037,4	K562	blood:
2	chr4:100483825..100487771-chr4:100493784..100496037,3	K562	blood:
3	chr4:100493820..100495717-chr4:100499196..100502149,2	K562	blood:

Variant related genes	Relation type
MTTP	TF binding region
ENSG00000145331	Chromatin interaction
ENSG00000138823	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10000018	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10009198	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10019266	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10026790	0.81[CEU][hapmap]
rs10030937	0.81[CEU][hapmap]
rs10031512	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11941470	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11944752	0.81[CEU][hapmap]
rs12647527	0.83[AFR][1000 genomes]
rs1491235	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1503774	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17029108	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17029165	0.82[AFR][1000 genomes]
rs1800803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800804	0.81[CEU][hapmap]
rs1873516	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1873517	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2089079	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3816873	0.81[CEU][hapmap]
rs6532820	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7661453	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7661665	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7693979	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs867380	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs867381	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs884274	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs884275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9990558	0.84[AMR][1000 genomes];0.96[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	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100493600-100495000	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:100493800-100494600	Enhancers	Ovary	ovary
3	chr4:100493800-100495000	Enhancers	Duodenum Mucosa	Duodenum
4	chr4:100493800-100495800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:100494000-100495000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:100494200-100494600	Weak transcription	Fetal Intestine Large	intestine
7	chr4:100494200-100494600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:100494200-100495200	Enhancers	Rectal Smooth Muscle	rectum
9	chr4:100494200-100495800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:100494400-100494600	Flanking Active TSS	Liver	Liver
11	chr4:100494400-100495200	Enhancers	HepG2	liver
12	chr4:100494400-100495800	Weak transcription	Aorta	Aorta

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