Variant report

Variant	rs10495987
Chromosome Location	chr2:50153280-50153281
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1156742	0.84[ASN][1000 genomes]
rs12465974	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12624115	0.89[ASN][1000 genomes]
rs12998574	0.86[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs13016900	0.88[EUR][1000 genomes]
rs1363046	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1421594	0.81[JPT][hapmap]
rs1592729	0.88[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs2350803	0.88[EUR][1000 genomes]
rs3850356	0.92[ASN][1000 genomes]
rs4461296	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6545136	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6713560	0.81[JPT][hapmap]
rs6713940	0.81[JPT][hapmap]
rs7573698	0.81[JPT][hapmap]
rs7574241	0.81[JPT][hapmap]
rs971732	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[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	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10495987	KLRAQ1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50141600-50175400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:50141600-50187400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:50149400-50154000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:50149400-50156200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:50150600-50155000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:50150600-50155000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:50151000-50154600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:50151800-50155000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:50151800-50160600	Weak transcription	Fetal Heart	heart
10	chr2:50152200-50154200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:50152400-50154400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:50153000-50154200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:50153000-50154600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:50153200-50155800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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