Variant report

Variant	rs4449109
Chromosome Location	chr2:35661990-35661991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11124447	1.00[EUR][1000 genomes]
rs2580385	1.00[EUR][1000 genomes]
rs2580386	1.00[EUR][1000 genomes]
rs2580399	1.00[EUR][1000 genomes]
rs2714562	1.00[EUR][1000 genomes]
rs2714563	1.00[EUR][1000 genomes]
rs2714570	1.00[EUR][1000 genomes]
rs2714571	1.00[EUR][1000 genomes]
rs2714585	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2719082	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2719099	1.00[EUR][1000 genomes]
rs2719106	1.00[EUR][1000 genomes]
rs2719114	1.00[EUR][1000 genomes]
rs4257376	1.00[EUR][1000 genomes]
rs4318365	1.00[EUR][1000 genomes]
rs7580047	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010722	chr2:35072575-35950219	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv519522	chr2:35425529-35861883	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1008651	chr2:35469467-35896486	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv999139	chr2:35483033-35860024	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv535636	chr2:35483033-35860024	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1005352	chr2:35509710-35680146	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv535637	chr2:35509710-35680146	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv873847	chr2:35601392-35670651	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv873848	chr2:35641532-35973963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35660600-35665400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:35660600-35666200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:35661200-35662000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:35661400-35662000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr2:35661400-35662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:35661800-35662600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:35661800-35666200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:35661800-35668400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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