Variant report

Variant	rs12318615
Chromosome Location	chr12:48333594-48333595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11168301	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168322	0.96[AFR][1000 genomes]
rs11574003	1.00[AMR][1000 genomes]
rs12313409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314051	0.81[AFR][1000 genomes]
rs12318019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58051519	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59128492	0.80[AFR][1000 genomes]
rs59608701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60757377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295130	0.81[AFR][1000 genomes]
rs73295132	0.81[AFR][1000 genomes]
rs73295134	0.81[AFR][1000 genomes]
rs73295162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086589	1.00[AFR][1000 genomes];1.00[AMR][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48328400-48337800	Enhancers	Fetal Heart	heart
2	chr12:48329400-48335200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:48331200-48333800	Enhancers	Hela-S3	cervix
4	chr12:48331800-48334600	Enhancers	Duodenum Mucosa	Duodenum
5	chr12:48332000-48334200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:48332000-48334200	Enhancers	HSMMtube	muscle
7	chr12:48332200-48333600	Enhancers	Small Intestine	intestine
8	chr12:48332400-48334200	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr12:48332600-48339600	Weak transcription	NHDF-Ad	bronchial
10	chr12:48332800-48333800	Enhancers	Fetal Intestine Large	intestine
11	chr12:48332800-48337400	Weak transcription	HMEC	breast
12	chr12:48332800-48337400	Weak transcription	NHEK	skin
13	chr12:48332800-48340200	Weak transcription	Right Atrium	heart
14	chr12:48333000-48335800	Weak transcription	Right Ventricle	heart
15	chr12:48333000-48339200	Weak transcription	HSMM	muscle
16	chr12:48333400-48333600	Enhancers	Colonic Mucosa	Colon
17	chr12:48333400-48335200	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:48333400-48335800	Weak transcription	Spleen	Spleen

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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