Variant report

Variant	rs28515693
Chromosome Location	chr12:119663207-119663208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11064723	1.00[AMR][1000 genomes]
rs12296614	1.00[AMR][1000 genomes]
rs12297189	1.00[AMR][1000 genomes]
rs12298987	1.00[AMR][1000 genomes]
rs12299039	1.00[AMR][1000 genomes]
rs12300871	1.00[AMR][1000 genomes]
rs12303668	1.00[AMR][1000 genomes]
rs12304236	1.00[AMR][1000 genomes]
rs12307998	1.00[AMR][1000 genomes]
rs7310373	1.00[AMR][1000 genomes]
rs7311389	1.00[AMR][1000 genomes]
rs7977260	1.00[AMR][1000 genomes]
rs7978697	1.00[AMR][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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv832528	chr12:119638211-119793401	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv275239	chr12:119662785-119666740	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119662400-119663400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:119662400-119663600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr12:119662400-119663600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr12:119662400-119663800	Enhancers	Left Ventricle	heart
5	chr12:119662600-119663400	Weak transcription	Lung	lung
6	chr12:119662600-119663400	Weak transcription	Psoas Muscle	Psoas
7	chr12:119662600-119663600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:119662600-119663800	Enhancers	Fetal Muscle Leg	muscle
9	chr12:119662800-119663800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr12:119663000-119663800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:119663200-119663600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:119663200-119663600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:119663200-119663600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:119663200-119663600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:119663200-119663600	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr12:119663200-119663800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:119663200-119663800	Enhancers	Pancreas	Pancrea
18	chr12:119663200-119664400	Enhancers	Fetal Heart	heart

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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

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