Variant report

Variant	rs1236837
Chromosome Location	chr2:168413249-168413250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1227130	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1227131	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1227132	0.81[EUR][1000 genomes]
rs1227137	0.82[EUR][1000 genomes]
rs1227145	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1227147	0.82[EUR][1000 genomes]
rs1227148	0.87[EUR][1000 genomes]
rs1228658	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1228659	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13031089	0.88[AMR][1000 genomes]
rs4667538	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73026045	0.88[ASN][1000 genomes]
rs7565127	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7574810	0.85[EUR][1000 genomes]
rs9749632	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3388045	chr2:168289403-168424317	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1008206	chr2:168401249-168452887	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv528466	chr2:168402224-168447851	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv583593	chr2:168402224-168452630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1004326	chr2:168403386-168452887	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv963183	chr2:168412509-168414582	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1236837	GRB14	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168379400-168414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:168400200-168416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:168401400-168414000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:168403600-168414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:168403800-168414200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:168408200-168414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:168408400-168414000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:168411600-168415800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr2:168412200-168415400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:168412400-168415200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr2:168413200-168415200	ZNF genes & repeats	iPS-20b 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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