Variant report

Variant	rs329492
Chromosome Location	chr2:64302273-64302274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11673747	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11679748	0.81[EUR][1000 genomes]
rs1814406	0.85[EUR][1000 genomes]
rs1837484	0.84[EUR][1000 genomes]
rs2576835	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2576837	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2901645	0.81[EUR][1000 genomes]
rs329481	0.83[EUR][1000 genomes]
rs329482	0.85[EUR][1000 genomes]
rs55756539	0.83[EUR][1000 genomes]
rs62138486	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7558544	0.85[EUR][1000 genomes]
rs7558568	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7559410	0.85[EUR][1000 genomes]
rs7572397	0.85[EUR][1000 genomes]
rs7574193	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7575383	0.85[EUR][1000 genomes]
rs7577356	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv10146	chr2:64296201-64303419	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64299600-64303200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:64300400-64303400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:64300600-64303200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:64301000-64305400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:64301200-64302800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:64301400-64302800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:64301400-64303600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:64301400-64305600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:64301800-64302800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:64301800-64303000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:64302000-64302800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:64302000-64318200	Weak transcription	Fetal Intestine Large	intestine
13	chr2:64302200-64305200	Weak transcription	HUES48 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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