Variant report

Variant	rs17001398
Chromosome Location	chr4:77026383-77026384
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	POLR2A	chr4:77026212-77026412	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77024140..77027603-chr4:77067488..77070849,3	K562	blood:
2	chr4:77022675..77026827-chr4:77067488..77070849,4	K562	blood:

Variant related genes	Relation type
ART3	TF binding region
ENSG00000138750	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11097229	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1372410	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs1372411	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs1465923	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs1542093	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1542094	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1542095	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17001389	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001392	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001393	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001395	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001396	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001534	0.95[ASN][1000 genomes]
rs17001542	0.95[ASN][1000 genomes]
rs17001551	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs17001559	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17001593	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17001598	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17001601	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17001606	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17001633	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs35442986	0.95[ASN][1000 genomes]
rs3733255	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs3733256	0.83[ASN][1000 genomes]
rs4282210	1.00[MEX][hapmap]
rs4379080	1.00[ASN][1000 genomes]
rs4416503	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs4639101	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs56696020	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60169811	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6826514	0.92[ASN][1000 genomes]
rs6856609	1.00[JPT][hapmap]
rs73825885	0.97[ASN][1000 genomes]
rs73826318	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73826361	0.95[ASN][1000 genomes]
rs7436214	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7682766	1.00[JPT][hapmap]
rs9307076	1.00[ASW][hapmap];0.88[LWK][hapmap];0.95[YRI][hapmap];0.94[AFR][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	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr4:77017000-77034400	Weak transcription	Right Ventricle	heart
2	chr4:77021200-77026600	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:77024000-77032200	Weak transcription	Left Ventricle	heart
4	chr4:77024800-77027000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:77025800-77026400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
6	chr4:77026200-77026400	Enhancers	Right Atrium	heart
7	chr4:77026200-77026400	Enhancers	HSMMtube	muscle
8	chr4:77026200-77026600	Enhancers	Fetal Muscle Leg	muscle
9	chr4:77026200-77026600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
10	chr4:77026200-77027800	Enhancers	Fetal Brain Male	brain
11	chr4:77026200-77027800	Weak transcription	K562	blood
12	chr4:77026200-77028000	Enhancers	Brain Cingulate Gyrus	brain

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