Variant report

Variant	rs17300936
Chromosome Location	chr1:57383358-57383359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17114516	1.00[YRI][hapmap]
rs17114524	1.00[YRI][hapmap]
rs17301146	0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs55646893	1.00[ASN][1000 genomes]
rs55915656	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6696110	0.90[CEU][hapmap]
rs7535170	1.00[YRI][hapmap]
rs9661996	0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs988276	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57377800-57386000	Weak transcription	NHDF-Ad	bronchial
2	chr1:57380800-57385000	Enhancers	HepG2	liver
3	chr1:57381400-57383400	Enhancers	Liver	Liver
4	chr1:57381800-57383400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:57381800-57384800	Weak transcription	Fetal Intestine Small	intestine
6	chr1:57382200-57384600	Weak transcription	Pancreas	Pancrea
7	chr1:57382200-57390200	Weak transcription	Right Ventricle	heart
8	chr1:57382400-57383400	Enhancers	Gastric	stomach
9	chr1:57382600-57383400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:57382600-57383600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:57382600-57383600	Enhancers	Fetal Muscle Leg	muscle
12	chr1:57383000-57386200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:57383200-57383400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:57383200-57383600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:57383200-57383600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:57383200-57384600	Weak transcription	Fetal Kidney	kidney
17	chr1:57383200-57390800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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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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