Variant report

Variant	rs2189037
Chromosome Location	chr7:27412812-27412813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10268902	0.84[AMR][1000 genomes]
rs10269877	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10271302	0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10280925	0.81[JPT][hapmap]
rs10951164	0.81[JPT][hapmap]
rs11761403	0.84[ASN][1000 genomes]
rs2391421	0.84[EUR][1000 genomes]
rs6462011	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv17587	chr7:27412567-27413053	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2189037	hCT2299667	cis	multi-tissue	Pritchard
rs2189037	Contig24600_RC	cis	multi-tissue	Pritchard
rs2189037	Contig27799_RC	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27404800-27415000	Weak transcription	Right Atrium	heart
2	chr7:27411600-27413000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:27411800-27413000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:27412200-27415000	Weak transcription	A549	lung
5	chr7:27412400-27414200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:27412400-27414600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:27412400-27415600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:27412600-27414200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:27412600-27414800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:27412600-27416000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:27412600-27416600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:27412600-27416600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:27412800-27413800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:27412800-27414800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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