Variant report

Variant	rs7306380
Chromosome Location	chr12:20528692-20528693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10743368	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10841508	0.82[CHB][hapmap]
rs11045197	0.82[CHB][hapmap]
rs12300264	0.95[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20520400-20528800	Active TSS	Right Atrium	heart
2	chr12:20520600-20530400	Active TSS	Right Ventricle	heart
3	chr12:20523400-20529200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:20524600-20530000	Weak transcription	Colonic Mucosa	Colon
5	chr12:20525600-20531400	Weak transcription	Osteobl	bone
6	chr12:20525600-20543000	Weak transcription	NHDF-Ad	bronchial
7	chr12:20526400-20531600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:20526400-20537600	Weak transcription	Fetal Stomach	stomach
9	chr12:20526600-20536800	Enhancers	Colon Smooth Muscle	Colon
10	chr12:20526800-20530000	Enhancers	Fetal Intestine Small	intestine
11	chr12:20526800-20541000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:20527400-20530000	Enhancers	Fetal Intestine Large	intestine
13	chr12:20527800-20529200	Enhancers	HUVEC	blood vessel
14	chr12:20527800-20530000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr12:20528000-20530600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:20528000-20531000	Weak transcription	A549	lung
17	chr12:20528000-20531400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:20528000-20532000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:20528000-20536600	Weak transcription	Left Ventricle	heart
20	chr12:20528400-20528800	Transcr. at gene 5' and 3'	Hela-S3	cervix
21	chr12:20528600-20528800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:20528600-20528800	Weak transcription	Fetal Heart	heart
23	chr12:20528600-20532000	Weak transcription	Aorta	Aorta
24	chr12:20528600-20542000	Weak transcription	Rectal Mucosa Donor 31	rectum

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