Variant report

Variant	rs259823
Chromosome Location	chr2:180775718-180775719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10182000	0.88[ASN][1000 genomes]
rs11888692	0.83[ASN][1000 genomes]
rs11891565	0.88[ASN][1000 genomes]
rs11894242	0.80[ASN][1000 genomes]
rs13418239	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs259817	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs259822	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259825	0.89[ASN][1000 genomes]
rs389047	0.84[EUR][1000 genomes]
rs439211	0.99[ASN][1000 genomes]
rs4597479	0.88[ASN][1000 genomes]
rs6709172	0.86[ASN][1000 genomes]
rs6718329	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6744465	0.80[ASN][1000 genomes]
rs7597351	0.85[ASN][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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv521134	chr2:180746041-180848488	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006598	chr2:180766983-180923051	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180774600-180775800	Flanking Active TSS	Liver	Liver
2	chr2:180774600-180776200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:180774800-180775800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:180774800-180775800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:180774800-180776000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:180774800-180776000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:180774800-180776200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:180774800-180776200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:180774800-180776200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:180774800-180776200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:180775200-180776000	Enhancers	HUES64 Cell Line	embryonic stem cell

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

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