Variant report

Variant	rs1427488
Chromosome Location	chr7:18458734-18458735
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1365892	1.00[EUR][1000 genomes]
rs1559952	1.00[EUR][1000 genomes]
rs213265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs213266	1.00[EUR][1000 genomes]
rs213267	1.00[EUR][1000 genomes]
rs213268	1.00[EUR][1000 genomes]
rs213277	1.00[EUR][1000 genomes]
rs213278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57820243	1.00[EUR][1000 genomes]
rs58218896	1.00[EUR][1000 genomes]
rs58844869	1.00[EUR][1000 genomes]
rs59534338	1.00[EUR][1000 genomes]
rs59672464	1.00[EUR][1000 genomes]
rs61004165	1.00[EUR][1000 genomes]
rs73305223	1.00[EUR][1000 genomes]
rs7804740	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs801761	1.00[EUR][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	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18429200-18461200	Weak transcription	Aorta	Aorta
2	chr7:18445600-18460400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:18445600-18482000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:18445800-18467000	Weak transcription	Primary B cells from cord blood	blood
5	chr7:18447200-18468200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:18447400-18466400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:18448200-18467800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:18454800-18460200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:18454800-18461800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:18455000-18459000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:18455000-18460400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:18455000-18460400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:18455200-18460400	Weak transcription	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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