Variant report

Variant	rs4760603
Chromosome Location	chr12:48303561-48303562
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr12:48303539-48303563	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48301680..48304083-chr12:48309800..48311806,2	MCF-7	breast:
2	chr12:48303456..48306045-chr12:48319476..48321750,3	MCF-7	breast:
3	chr12:48291415..48293817-chr12:48302480..48304953,2	K562	blood:
4	chr12:48299753..48302171-chr12:48303242..48305976,2	K562	blood:
5	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:

No data

Variant related genes	Relation type
VDR	TF binding region
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10083198	0.87[ASN][1000 genomes]
rs10747527	0.87[AMR][1000 genomes]
rs10783219	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875699	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12304110	0.87[ASN][1000 genomes]
rs4237855	0.83[EUR][1000 genomes]
rs4578458	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4578459	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4760655	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4760669	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4760670	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4760672	0.85[AMR][1000 genomes]
rs6580644	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580645	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7132324	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7299460	0.93[ASN][1000 genomes]
rs7312286	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7965397	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7970314	0.92[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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48299600-48303800	Weak transcription	Adipose Nuclei	Adipose
2	chr12:48299600-48303800	Weak transcription	Small Intestine	intestine
3	chr12:48299600-48304200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:48299800-48304000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:48300000-48303600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:48300000-48303600	Weak transcription	HMEC	breast
7	chr12:48300000-48307200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:48301000-48303800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:48301200-48303600	Enhancers	HepG2	liver
10	chr12:48301600-48304800	Enhancers	Fetal Intestine Small	intestine
11	chr12:48301800-48304800	Enhancers	Fetal Intestine Large	intestine
12	chr12:48302000-48304200	Weak transcription	HSMMtube	muscle
13	chr12:48302200-48303600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:48302600-48306400	Enhancers	Placenta	Placenta
15	chr12:48302800-48305400	Weak transcription	Colonic Mucosa	Colon
16	chr12:48302800-48305400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:48303200-48304800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:48303200-48305000	Enhancers	NHDF-Ad	bronchial
19	chr12:48303400-48305000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:48303400-48305000	Enhancers	NHEK	skin
21	chr12:48303400-48305200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:48303400-48306000	Enhancers	Duodenum Mucosa	Duodenum

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