Variant report

Variant	rs1095968
Chromosome Location	chr2:74419775-74419776
allele	C/T
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:18)

rs_ID	r²[population]
rs12196	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13426653	0.81[EUR][1000 genomes]
rs1723281	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1723285	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3108164	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853016	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546893	0.85[EUR][1000 genomes]
rs6546894	0.80[EUR][1000 genomes]
rs702462	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7340453	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8001	0.80[EUR][1000 genomes]
rs828853	0.82[EUR][1000 genomes]
rs828855	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828856	0.87[EUR][1000 genomes]
rs828857	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs828858	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs828859	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828903	0.81[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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74409200-74419800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:74415600-74425200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:74415600-74425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:74417200-74425000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:74417600-74425200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:74418200-74419800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:74418800-74419800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:74418800-74420000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:74418800-74420000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:74418800-74420400	Enhancers	HepG2	liver
11	chr2:74419000-74420400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:74419200-74420400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:74419400-74419800	Enhancers	K562	blood
14	chr2:74419400-74420000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:74419400-74420000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:74419400-74424400	Weak transcription	Pancreas	Pancrea
17	chr2:74419600-74420400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:74419600-74425200	Weak transcription	ES-I3 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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