Variant report

Variant	rs4076364
Chromosome Location	chr18:45665107-45665108
allele	G/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	NFIC	chr18:45664862-45666539	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr18:45664956-45666429	ECC-1	luminal epithelium:	n/a	chr18:45665586-45665593 chr18:45666411-45666418 chr18:45666097-45666104 chr18:45665540-45665547
3	EP300	chr18:45664786-45666605	ECC-1	luminal epithelium:	n/a	chr18:45666509-45666519 chr18:45665252-45665262 chr18:45666229-45666238
4	FOXA1	chr18:45664906-45665320	ECC-1	luminal epithelium:	n/a	n/a
5	TCF12	chr18:45664987-45666533	ECC-1	luminal epithelium:	n/a	chr18:45665586-45665593 chr18:45666510-45666519 chr18:45666411-45666418 chr18:45666097-45666104 chr18:45665540-45665547
6	NFIC	chr18:45664718-45666531	ECC-1	luminal epithelium:	n/a	n/a
7	ZNF263	chr18:45664861-45666532	HEK293-T-REx	kidney:	n/a	chr18:45665981-45665990 chr18:45666270-45666279 chr18:45666273-45666282 chr18:45665711-45665732 chr18:45666276-45666285

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45658580..45662145-chr18:45664603..45667810,4	MCF-7	breast:
2	chr18:45641054..45643566-chr18:45664134..45666648,2	MCF-7	breast:

Variant related genes	Relation type
ZBTB7C	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12965052	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4076363	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4078130	0.88[ASN][1000 genomes]
rs61322349	0.85[ASN][1000 genomes]
rs6507818	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7243021	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7243437	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8091725	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8098626	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9951415	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9953845	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45663600-45665600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:45663600-45666000	Weak transcription	Left Ventricle	heart
3	chr18:45663600-45666200	Weak transcription	Psoas Muscle	Psoas
4	chr18:45663600-45667400	Enhancers	Placenta	Placenta
5	chr18:45663600-45667400	Enhancers	Spleen	Spleen
6	chr18:45663800-45665200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:45663800-45665400	Weak transcription	Ovary	ovary
8	chr18:45663800-45665400	Weak transcription	Right Ventricle	heart
9	chr18:45663800-45665600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr18:45663800-45665600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
11	chr18:45663800-45665800	Weak transcription	Liver	Liver
12	chr18:45663800-45666200	Weak transcription	Right Atrium	heart
13	chr18:45663800-45666400	Enhancers	HSMMtube	muscle
14	chr18:45663800-45666600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr18:45663800-45666600	Flanking Active TSS	Hela-S3	cervix
16	chr18:45663800-45667400	Enhancers	Gastric	stomach
17	chr18:45663800-45667800	Enhancers	Esophagus	oesophagus
18	chr18:45663800-45679800	Weak transcription	Aorta	Aorta
19	chr18:45664000-45665200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr18:45664000-45666400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:45664000-45667600	Enhancers	Stomach Mucosa	stomach
22	chr18:45664000-45670400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr18:45664200-45665200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr18:45664200-45665400	Weak transcription	HMEC	breast
25	chr18:45664200-45667400	Enhancers	Colonic Mucosa	Colon
26	chr18:45664200-45667400	Enhancers	Lung	lung
27	chr18:45664400-45667400	Enhancers	Duodenum Mucosa	Duodenum
28	chr18:45664600-45667000	Enhancers	Dnd41	blood
29	chr18:45664600-45667400	Enhancers	Pancreas	Pancrea
30	chr18:45664800-45665200	Weak transcription	Fetal Kidney	kidney
31	chr18:45664800-45665200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr18:45665000-45665200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr18:45665000-45665200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr18:45665000-45665400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr18:45665000-45665400	Enhancers	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links