Variant report

Variant	rs2196490
Chromosome Location	chr12:29634343-29634344
allele	C/G
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:4)

rs_ID	r²[population]
rs12307336	0.83[EUR][1000 genomes]
rs12307443	0.83[EUR][1000 genomes]
rs12314462	0.83[EUR][1000 genomes]
rs7295558	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
3	chr12:29598400-29657400	Weak transcription	HSMM	muscle
4	chr12:29600000-29639800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas
6	chr12:29604200-29655400	Weak transcription	Adipose Nuclei	Adipose
7	chr12:29612800-29655600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:29613600-29655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:29613600-29666800	Weak transcription	Spleen	Spleen
10	chr12:29614600-29658000	Weak transcription	HSMMtube	muscle
11	chr12:29616400-29659400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:29617400-29657400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:29618200-29642000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:29625000-29656800	Weak transcription	Left Ventricle	heart
15	chr12:29627200-29639800	Weak transcription	Brain Anterior Caudate	brain
16	chr12:29628000-29662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:29628600-29634800	Weak transcription	Right Ventricle	heart
18	chr12:29630800-29637400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:29631000-29639800	Weak transcription	Muscle Satellite Cultured Cells	--

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

what's new

Quick links