Variant report

Variant	rs35121983
Chromosome Location	chr5:147469113-147469114
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	BRCA1	chr5:147468993-147470890	Hela-S3	cervix:	n/a	n/a
2	MAFK	chr5:147468901-147469142	HepG2	liver:	n/a	chr5:147469006-147469017
3	ZKSCAN1	chr5:147468668-147469233	Hela-S3	cervix:	n/a	n/a
4	MAFK	chr5:147468822-147469281	Hela-S3	cervix:	n/a	chr5:147469244-147469254 chr5:147469006-147469017
5	RCOR1	chr5:147469053-147469353	Hela-S3	cervix:	n/a	n/a
6	RFX5	chr5:147468763-147470934	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr5:147469045-147469285	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SPINK5	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2287773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033838	chr5:147360521-147484014	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv933225	chr5:147395849-147486560	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv830515	chr5:147460852-147602247	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:147450800-147474000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:147451000-147470000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:147454000-147470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:147462600-147471600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:147464000-147469800	Enhancers	Hela-S3	cervix
6	chr5:147464200-147491200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:147464400-147469800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:147464400-147488800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:147466200-147469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:147466200-147471600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:147467200-147469600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:147467200-147469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:147467200-147469600	Weak transcription	NHEK	skin
14	chr5:147468600-147471000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:147469000-147469200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:147469000-147469200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:147469000-147469200	Enhancers	Colon Smooth Muscle	Colon
18	chr5:147469000-147469200	Genic enhancers	Esophagus	oesophagus
19	chr5:147469000-147470200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:147469000-147470400	Enhancers	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links