Variant report

Variant	rs56307710
Chromosome Location	chr1:94480355-94480356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11803885	0.89[EUR][1000 genomes]
rs17110885	0.92[EUR][1000 genomes]
rs17110889	0.92[EUR][1000 genomes]
rs17110891	0.89[EUR][1000 genomes]
rs17110905	0.89[EUR][1000 genomes]
rs17110916	0.89[EUR][1000 genomes]
rs17389488	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17389899	0.92[EUR][1000 genomes]
rs41292681	0.89[EUR][1000 genomes]
rs56253197	0.87[EUR][1000 genomes]
rs7543524	0.87[EUR][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	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv546850	chr1:94479468-94485277	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94471200-94480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:94475400-94485600	Weak transcription	NH-A	brain
3	chr1:94476800-94480400	Enhancers	Fetal Intestine Large	intestine
4	chr1:94477000-94481600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:94477200-94480400	Weak transcription	HMEC	breast
6	chr1:94478400-94480400	Weak transcription	Osteobl	bone
7	chr1:94479000-94481600	Enhancers	K562	blood
8	chr1:94479200-94484800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:94479400-94484800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:94479400-94484800	Weak transcription	Placenta	Placenta
11	chr1:94479400-94486000	Weak transcription	HSMM	muscle
12	chr1:94479600-94486200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:94479800-94489200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:94480000-94480600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:94480000-94480800	Enhancers	Fetal Muscle Leg	muscle
16	chr1:94480000-94484800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:94480200-94480600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:94480200-94481200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:94480200-94481400	Enhancers	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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