Variant report

Variant	rs12298339
Chromosome Location	chr12:29851618-29851619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11050387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050390	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12298340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12306497	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319770	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12319844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57896152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58519956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	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
3	nsv557921	chr12:29843095-29859352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv1826337	chr12:29844526-29851719	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv557930	chr12:29844526-29851719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv557939	chr12:29844628-29851719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv557953	chr12:29844857-29851719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv557956	chr12:29845070-29851719	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29828600-29854000	Weak transcription	Aorta	Aorta
2	chr12:29830000-29854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:29830000-29861600	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:29830200-29857400	Weak transcription	HSMM	muscle
5	chr12:29830400-29857400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:29830600-29858000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:29830800-29862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:29838000-29851800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:29839400-29858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:29840600-29859000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:29848200-29854200	Weak transcription	NHDF-Ad	bronchial
13	chr12:29848200-29855200	Weak transcription	Psoas Muscle	Psoas
14	chr12:29848200-29857200	Weak transcription	Left Ventricle	heart
15	chr12:29849800-29853400	Weak transcription	Adipose Nuclei	Adipose
16	chr12:29850400-29851800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:29850400-29852200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:29850400-29852200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:29850400-29852600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:29850400-29854200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:29850800-29852200	Enhancers	HMEC	breast
22	chr12:29851000-29851800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr12:29851000-29852200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:29851000-29852400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr12:29851000-29852800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:29851200-29851800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:29851200-29852200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:29851200-29852200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:29851400-29851800	Enhancers	Fetal Kidney	kidney
30	chr12:29851400-29852200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:29851400-29852200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:29851600-29851800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:29851600-29852000	Enhancers	Fetal Stomach	stomach
34	chr12:29851600-29852200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr12:29851600-29852200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:29851600-29852200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr12:29851600-29852200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr12:29851600-29852200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links