Variant report

Variant	rs954483
Chromosome Location	chr7:109222164-109222165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13224726	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13227135	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1546768	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2177525	0.96[ASN][1000 genomes]
rs34823217	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][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	nsv1023379	chr7:109003574-109355234	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv608079	chr7:109098364-109862289	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1020761	chr7:109208187-109275700	Weak transcription Genic enhancers 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	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs954483	DLD	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109211800-109234000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:109218000-109223800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:109218200-109225000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:109218200-109226400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:109220200-109223600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:109220400-109225000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:109220800-109224000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:109221200-109228200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:109221200-109234400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:109221600-109222400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:109221800-109222200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:109221800-109222200	Enhancers	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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