Variant report

Variant	rs2612327
Chromosome Location	chr18:39139362-39139363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1942059	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1942075	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1942076	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs1942079	0.81[ASN][1000 genomes]
rs1942080	0.83[ASN][1000 genomes]
rs2000705	0.81[ASN][1000 genomes]
rs2212724	0.81[ASN][1000 genomes]
rs2226735	0.81[ASN][1000 genomes]
rs2587625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2587633	0.81[ASN][1000 genomes]
rs2587635	0.81[ASN][1000 genomes]
rs2612326	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2612329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2612332	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2612340	0.80[ASN][1000 genomes]
rs2612355	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs2848775	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909564	chr18:38739067-39179256	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv2267	chr18:39123940-39169583	Enhancers Weak transcription Strong transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
5	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39138800-39150000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr18:39139000-39149200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:39139000-39156800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr18:39139200-39139800	Weak transcription	Fetal Heart	heart

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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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