Variant report

Variant	rs2158769
Chromosome Location	chr7:27379499-27379500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10274728	0.81[CHB][hapmap];0.87[CHD][hapmap]
rs11563973	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs17429270	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv887893	chr7:27326739-27380936	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2158769	AQP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27378200-27381800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:27378400-27380000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:27378800-27379800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr7:27379000-27379600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:27379000-27379600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:27379200-27379800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:27379200-27379800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:27379200-27379800	Enhancers	A549	lung
9	chr7:27379400-27379800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:27379400-27379800	Enhancers	Psoas Muscle	Psoas
11	chr7:27379400-27379800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr7:27379400-27379800	Enhancers	HepG2	liver
13	chr7:27379400-27379800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr7:27379400-27380000	Enhancers	Primary hematopoietic stem cells	blood

Quick Search:

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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