Variant report

Variant	rs12318388
Chromosome Location	chr12:20587198-20587199
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12309205	1.00[AMR][1000 genomes]
rs12317699	1.00[AMR][1000 genomes]
rs12318102	1.00[AMR][1000 genomes]
rs9804914	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20558600-20588000	Weak transcription	HUVEC	blood vessel
2	chr12:20568200-20588600	Weak transcription	Small Intestine	intestine
3	chr12:20568600-20588800	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:20568600-20595400	Weak transcription	Pancreas	Pancrea
5	chr12:20573800-20599800	Weak transcription	Left Ventricle	heart
6	chr12:20576800-20589000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:20578200-20588600	Weak transcription	Aorta	Aorta
8	chr12:20578800-20597000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:20580200-20588000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:20582200-20588000	Weak transcription	NHDF-Ad	bronchial
11	chr12:20583000-20587600	Weak transcription	Osteobl	bone
12	chr12:20583000-20590600	Weak transcription	Fetal Stomach	stomach
13	chr12:20583800-20588000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:20583800-20588600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:20583800-20592400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:20585400-20588200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:20585400-20589000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:20586000-20588400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:20586200-20587200	Weak transcription	Fetal Intestine Large	intestine
20	chr12:20586200-20587400	Weak transcription	Fetal Intestine Small	intestine
21	chr12:20586400-20587200	Weak transcription	Hela-S3	cervix
22	chr12:20586800-20587800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:20586800-20589400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:20586800-20589600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:20587000-20587200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:20587000-20587400	Enhancers	Colon Smooth Muscle	Colon
27	chr12:20587000-20587800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr12:20587000-20589800	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links