Variant report

Variant	rs2667965
Chromosome Location	chr1:220466741-220466742
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12568631	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4272630	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4846310	0.85[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846314	0.81[EUR][1000 genomes]
rs4846626	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6702901	0.80[ASN][1000 genomes]
rs7516304	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs7524270	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7532002	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7548665	0.80[ASN][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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220464200-220467000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:220464200-220470400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:220464200-220473600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:220464600-220471600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:220464600-220471600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:220464600-220473800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:220465200-220472600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:220465400-220466800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:220466600-220467000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:220466600-220467400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:220466600-220467400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:220466600-220467800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:220466600-220468600	Enhancers	Fetal Stomach	stomach

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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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