Variant report

Variant	rs12317831
Chromosome Location	chr12:29879620-29879621
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11614262	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11616121	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12298050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12303772	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12311212	1.00[YRI][hapmap]
rs12809562	0.88[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29855800-29891200	Weak transcription	NHLF	lung
2	chr12:29863400-29895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:29867800-29881200	Weak transcription	Small Intestine	intestine
4	chr12:29868000-29885000	Weak transcription	HMEC	breast
5	chr12:29868600-29885600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:29872600-29884000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:29873000-29880800	Weak transcription	Hela-S3	cervix
8	chr12:29873200-29880800	Weak transcription	Spleen	Spleen
9	chr12:29875400-29891600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:29878000-29883000	Enhancers	Left Ventricle	heart
11	chr12:29878200-29879800	Enhancers	Brain Hippocampus Middle	brain
12	chr12:29878200-29880000	Enhancers	HUVEC	blood vessel
13	chr12:29878200-29881200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:29878200-29881800	Enhancers	Fetal Muscle Leg	muscle
15	chr12:29878200-29889000	Enhancers	Colon Smooth Muscle	Colon
16	chr12:29878400-29879800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:29878400-29879800	Enhancers	Fetal Heart	heart
18	chr12:29878400-29880000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:29878400-29880200	Enhancers	Rectal Smooth Muscle	rectum
20	chr12:29878400-29887400	Weak transcription	Aorta	Aorta
21	chr12:29878600-29879800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:29878600-29879800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:29878600-29879800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:29878600-29880200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:29878800-29879800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr12:29878800-29880000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:29878800-29880000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:29878800-29880000	Enhancers	Brain Substantia Nigra	brain
29	chr12:29878800-29880000	Enhancers	Fetal Kidney	kidney
30	chr12:29878800-29880000	Enhancers	Right Ventricle	heart
31	chr12:29878800-29880200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:29878800-29880400	Enhancers	Adipose Nuclei	Adipose
33	chr12:29878800-29881600	Enhancers	Fetal Stomach	stomach
34	chr12:29879000-29879800	Enhancers	Brain Angular Gyrus	brain
35	chr12:29879000-29879800	Enhancers	Ovary	ovary
36	chr12:29879000-29880000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr12:29879200-29879800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:29879200-29879800	Weak transcription	Psoas Muscle	Psoas
39	chr12:29879200-29883000	Weak transcription	Fetal Brain Female	brain
40	chr12:29879200-29884000	Enhancers	Stomach Smooth Muscle	stomach
41	chr12:29879200-29887200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:29879400-29879800	Enhancers	Right Atrium	heart
43	chr12:29879400-29879800	Enhancers	Osteobl	bone
44	chr12:29879400-29880000	Enhancers	Brain Anterior Caudate	brain
45	chr12:29879400-29880000	Enhancers	Brain Cingulate Gyrus	brain
46	chr12:29879400-29891600	Weak transcription	NHDF-Ad	bronchial
47	chr12:29879600-29880800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:29879600-29880800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr12:29879600-29880800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr12:29879600-29881000	Weak transcription	HSMM	muscle

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