Variant report

Variant	rs28398512
Chromosome Location	chr7:27414862-27414863
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11520770	0.82[YRI][hapmap]
rs11563446	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28398510	0.86[AFR][1000 genomes]
rs28398514	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7809404	1.00[AMR][1000 genomes]

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	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27404800-27415000	Weak transcription	Right Atrium	heart
2	chr7:27412200-27415000	Weak transcription	A549	lung
3	chr7:27412400-27415600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:27412600-27416000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:27412600-27416600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:27412600-27416600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:27414000-27415200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:27414200-27416400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:27414200-27416400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:27414200-27416600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:27414400-27415600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr7:27414400-27416400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:27414600-27415000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:27414600-27415400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:27414800-27416400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:27414800-27416400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:27414800-27416600	Enhancers	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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