Variant report

Variant	rs246785
Chromosome Location	chr5:75669205-75669206
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	JUN	chr5:75667630-75669245	K562	blood:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75667860-75667867 chr5:75668565-75668572 chr5:75667860-75667868 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75667860-75667868 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573

No.	Distal block	Cell Line	Cell type
1	chr5:75668230..75670019-chr5:75671615..75674101,2	K562	blood:
2	chr5:75658187..75661153-chr5:75667943..75670127,2	K562	blood:
3	chr5:75663384..75665585-chr5:75666962..75670034,4	K562	blood:
4	chr5:75661896..75664884-chr5:75666923..75670034,3	K562	blood:
5	chr5:75667400..75670922-chr5:75672523..75674364,4	K562	blood:

Variant related genes	Relation type
ENSG00000251235	TF binding region
ENSG00000251235	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs192196	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455429	0.83[EUR][1000 genomes]
rs246784	0.97[EUR][1000 genomes]
rs246789	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913245	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972864	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972865	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972866	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372733	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405030	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235697	0.96[EUR][1000 genomes]
rs4703706	0.91[EUR][1000 genomes]
rs4704307	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv328635	chr5:75667780-75669370	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr5:75667800-75669800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:75668600-75670800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:75668600-75676600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:75668800-75676400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:75669000-75669800	Enhancers	K562	blood
6	chr5:75669000-75670800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:75669000-75671400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:75669000-75671600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:75669000-75671800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:75669000-75672000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:75669000-75672200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:75669000-75672600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:75669000-75672800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:75669000-75676400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:75669000-75676400	Weak transcription	Placenta	Placenta
16	chr5:75669000-75676800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:75669000-75682400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:75669200-75670800	Weak transcription	HepG2	liver
19	chr5:75669200-75672200	Weak transcription	A549	lung
20	chr5:75669200-75672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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