Variant report

Variant	rs56078608
Chromosome Location	chr12:119714245-119714246
allele	A/T
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:5)

rs_ID	r²[population]
rs1365433	1.00[ASN][1000 genomes]
rs35446494	1.00[ASN][1000 genomes]
rs55778862	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314688	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73217211	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119712400-119715000	Weak transcription	Left Ventricle	heart
2	chr12:119712600-119714600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:119712600-119718400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:119712800-119714400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:119712800-119714600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:119712800-119715000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:119712800-119715400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:119712800-119715600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:119713000-119714600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:119713200-119715000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:119714000-119714800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:119714200-119714600	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:119714200-119714600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:119714200-119714800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:119714200-119714800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:119714200-119714800	Enhancers	Right Atrium	heart
17	chr12:119714200-119715000	Enhancers	Adipose Nuclei	Adipose
18	chr12:119714200-119715200	Enhancers	Lung	lung
19	chr12:119714200-119715200	Enhancers	Spleen	Spleen

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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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