Variant report

Variant	rs10008420
Chromosome Location	chr4:30950803-30950804
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	JUND	chr4:30950095-30950928	HCT-116	colon:	n/a	chr4:30950397-30950409
2	FOSL1	chr4:30949983-30950846	HCT-116	colon:	n/a	chr4:30950397-30950409
3	RAD21	chr4:30950223-30950889	HCT-116	colon:	n/a	n/a
4	SRF	chr4:30950134-30950965	HCT-116	colon:	n/a	n/a
5	CEBPB	chr4:30950011-30950804	HCT-116	colon:	n/a	n/a
6	CEBPB	chr4:30950012-30950922	HCT-116	colon:	n/a	n/a
7	SP1	chr4:30949999-30950941	HCT-116	colon:	n/a	n/a
8	SP1	chr4:30950014-30950870	HCT-116	colon:	n/a	n/a
9	CBX3	chr4:30950133-30950843	HCT-116	colon:	n/a	chr4:30950155-30950166

Variant related genes	Relation type
PCDH7	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10001740	0.81[ASN][1000 genomes]
rs10027212	0.91[ASN][1000 genomes]
rs10805301	0.81[AFR][1000 genomes]
rs4293757	0.81[EUR][1000 genomes]
rs4466009	0.91[ASN][1000 genomes]
rs4499665	0.81[AFR][1000 genomes]
rs56190579	0.80[EUR][1000 genomes]
rs61795880	0.81[EUR][1000 genomes]
rs61795886	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61795889	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6822671	0.92[ASN][1000 genomes]
rs6844071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672741	0.91[ASN][1000 genomes]
rs7697578	0.92[ASN][1000 genomes]
rs9992704	0.81[EUR][1000 genomes]
rs9995296	0.81[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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30928600-30997400	Weak transcription	Fetal Lung	lung
2	chr4:30941600-30951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:30945000-30952400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:30945200-30954000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:30945400-30954600	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:30947400-30952200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:30947600-30952600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:30947800-30951600	Weak transcription	Fetal Intestine Large	intestine
9	chr4:30947800-30952000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:30948200-30951600	Weak transcription	Fetal Intestine Small	intestine
11	chr4:30948200-30951800	Weak transcription	Left Ventricle	heart
12	chr4:30948200-30953000	Weak transcription	Aorta	Aorta
13	chr4:30948200-30954200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:30948200-30956000	Weak transcription	Fetal Heart	heart
15	chr4:30949400-30955800	Enhancers	Hela-S3	cervix
16	chr4:30950200-30951000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:30950400-30952000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:30950400-30952800	Enhancers	NHEK	skin
19	chr4:30950400-30954800	Enhancers	HMEC	breast
20	chr4:30950600-30951200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:30950800-30956400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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