Variant report

Variant	rs17448997
Chromosome Location	chr5:120534887-120534888
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	PBX3	chr5:120534819-120535271	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr5:120534801-120535287	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr5:120534855-120535512	SK-N-SH	brain:	n/a	n/a
4	PRDM1	chr5:120534873-120535497	Hela-S3	cervix:	n/a	chr5:120535011-120535025 chr5:120535015-120535024 chr5:120535011-120535024
5	TCF7L2	chr5:120534379-120535299	Hela-S3	cervix:	n/a	n/a
6	TCF12	chr5:120534756-120535414	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr5:120534822-120535426	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000250847	TF binding region
ENSG00000229855	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12153279	0.90[ASN][1000 genomes]
rs13354052	1.00[JPT][hapmap]
rs13361321	0.90[ASN][1000 genomes]
rs17147467	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147473	0.90[ASN][1000 genomes]
rs17147478	0.90[ASN][1000 genomes]
rs17448503	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17448573	0.83[AMR][1000 genomes]
rs17448664	0.89[ASN][1000 genomes]
rs17448969	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17514590	0.83[AMR][1000 genomes]
rs17514786	1.00[JPT][hapmap]
rs17514814	0.85[CEU][hapmap]
rs28700963	0.90[ASN][1000 genomes]
rs2914082	0.90[ASN][1000 genomes]
rs4895174	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62379884	0.89[ASN][1000 genomes]
rs62379887	0.90[ASN][1000 genomes]
rs72793845	0.90[ASN][1000 genomes]
rs72793851	0.90[ASN][1000 genomes]
rs72793852	0.90[ASN][1000 genomes]
rs72793853	0.90[ASN][1000 genomes]
rs72793861	0.90[ASN][1000 genomes]
rs73268470	0.89[ASN][1000 genomes]
rs73268473	0.89[ASN][1000 genomes]
rs7724812	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882794	chr5:120219340-120541488	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv599606	chr5:120219340-120776767	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv527585	chr5:120270505-120542415	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019763	chr5:120284495-120544707	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3402839	chr5:120286561-120667036	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv882797	chr5:120359319-120757262	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1020158	chr5:120373318-120584052	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1021763	chr5:120373810-120584052	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1016246	chr5:120375906-120569533	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv537888	chr5:120375906-120569533	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
11	esv33642	chr5:120380525-120848760	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2754268	chr5:120398198-120745053	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv830468	chr5:120464697-120649067	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv516363	chr5:120511120-120551709	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
15	nsv882798	chr5:120515118-120589282	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
16	nsv462430	chr5:120528554-120589773	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
17	nsv471043	chr5:120528554-120589773	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
18	nsv599616	chr5:120528554-120589773	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120534400-120535000	Enhancers	Fetal Heart	heart
2	chr5:120534400-120535200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:120534600-120535000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:120534600-120535000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:120534600-120535000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr5:120534600-120535000	Enhancers	Adipose Nuclei	Adipose
7	chr5:120534600-120535000	Enhancers	Ovary	ovary
8	chr5:120534600-120535200	Enhancers	Fetal Brain Male	brain
9	chr5:120534600-120535200	Enhancers	Rectal Smooth Muscle	rectum
10	chr5:120534600-120535400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:120534600-120535400	Enhancers	Dnd41	blood
12	chr5:120534600-120535400	Active TSS	NHLF	lung
13	chr5:120534600-120535600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr5:120534800-120535000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:120534800-120535200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:120534800-120535200	Enhancers	Fetal Lung	lung
17	chr5:120534800-120535200	Active TSS	NHDF-Ad	bronchial
18	chr5:120534800-120535200	Active TSS	Osteobl	bone
19	chr5:120534800-120535400	Active TSS	A549	lung

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