Variant report

Variant	rs4370814
Chromosome Location	chr1:210990537-210990538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1343142	0.96[ASN][1000 genomes]
rs1418971	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1418973	0.83[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1418974	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs1573159	0.85[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs2358095	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2884335	0.83[JPT][hapmap]
rs2884381	0.85[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4245750	0.82[CHB][hapmap]
rs4532912	0.82[JPT][hapmap]
rs4951641	0.82[JPT][hapmap]
rs6540625	0.88[JPT][hapmap]
rs6540626	0.83[JPT][hapmap]
rs7529524	0.93[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv999018	chr1:210907239-210999306	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4370814	KCNH1	cis	parietal	SCAN
rs4370814	SERTAD4	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210977600-210993200	Weak transcription	HSMM	muscle
2	chr1:210989000-210991400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr1:210989400-210990600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:210989800-210990600	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:210990000-210995400	Weak transcription	Brain Angular Gyrus	brain

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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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