Variant report

Variant	rs17030159
Chromosome Location	chr2:60295277-60295278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12616547	0.84[AMR][1000 genomes]
rs34462734	0.83[EUR][1000 genomes]
rs35905539	0.94[EUR][1000 genomes]
rs4672360	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62142763	0.91[ASN][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	nsv869086	chr2:59684680-60676096	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931913	chr2:60026285-61006476	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1002745	chr2:60292007-60364139	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:60281400-60306200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:60292200-60298800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:60292200-60304200	Weak transcription	Pancreas	Pancrea
4	chr2:60292400-60297000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:60292400-60304200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:60292400-60310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:60292600-60297000	Weak transcription	Fetal Brain Female	brain
8	chr2:60293000-60297400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:60293000-60297600	Weak transcription	Dnd41	blood
10	chr2:60293000-60298400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:60293000-60298400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:60293600-60295400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:60294200-60296600	Enhancers	GM12878-XiMat	blood
14	chr2:60294400-60299800	Weak transcription	Left Ventricle	heart
15	chr2:60294800-60296200	Weak transcription	Fetal Heart	heart
16	chr2:60295000-60295400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:60295000-60297600	Weak transcription	HSMMtube	muscle
18	chr2:60295200-60295400	Enhancers	Fetal Thymus	thymus
19	chr2:60295200-60297600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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