Variant report

Variant	rs17350053
Chromosome Location	chr1:170184112-170184113
allele	C/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	SPI1	chr1:170183213-170184240	GM12878	blood:	n/a	chr1:170183684-170183693
2	WRNIP1	chr1:170183880-170184240	GM12878	blood:	n/a	n/a
3	BHLHE40	chr1:170183226-170184154	GM12878	blood:	n/a	n/a
4	CHD2	chr1:170183193-170184139	GM12878	blood:	n/a	n/a
5	IRF4	chr1:170183278-170184129	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ISCUP1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12118078	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12142060	0.93[ASN][1000 genomes]
rs12144655	0.93[ASN][1000 genomes]
rs16863109	0.81[MKK][hapmap]
rs17345893	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17345907	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17345935	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17350032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6662495	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6687139	0.93[ASN][1000 genomes]
rs6703198	1.00[MEX][hapmap]

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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv999310	chr1:170065943-170223350	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	esv3693321	chr1:170167702-170188648	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170182600-170184200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:170182600-170184200	Enhancers	Aorta	Aorta
3	chr1:170182600-170184600	Enhancers	Fetal Muscle Leg	muscle
4	chr1:170183000-170184200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:170183000-170184400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:170183000-170184400	Enhancers	NHLF	lung
7	chr1:170183000-170185000	Enhancers	NHDF-Ad	bronchial
8	chr1:170183000-170185600	Enhancers	Adipose Nuclei	Adipose
9	chr1:170183000-170187200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:170183200-170184200	Enhancers	Fetal Kidney	kidney
11	chr1:170183200-170184400	Enhancers	Fetal Stomach	stomach
12	chr1:170183200-170187600	Weak transcription	Left Ventricle	heart
13	chr1:170183400-170184400	Enhancers	Ovary	ovary
14	chr1:170183800-170184200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr1:170183800-170184800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:170183800-170185000	Enhancers	Osteobl	bone
17	chr1:170184000-170184200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:170184000-170184400	Enhancers	Fetal Lung	lung
19	chr1:170184000-170184400	Enhancers	GM12878-XiMat	blood
20	chr1:170184000-170187200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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