Variant report

Variant	rs16847491
Chromosome Location	chr2:212880471-212880472
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11903314	1.00[CEU][hapmap]
rs16847543	0.93[ASW][hapmap];0.95[LWK][hapmap];0.82[MKK][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs16847545	0.92[YRI][hapmap]
rs16847551	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16847554	1.00[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16847741	1.00[CEU][hapmap]
rs16847746	1.00[CEU][hapmap]
rs16847747	1.00[CEU][hapmap]
rs59883305	0.96[EUR][1000 genomes]
rs60599619	0.86[AFR][1000 genomes]
rs6723461	1.00[CEU][hapmap]
rs73988936	0.82[AFR][1000 genomes]
rs73988940	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73988943	0.86[AFR][1000 genomes]
rs73988951	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7592809	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875792	chr2:212824999-212896571	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv584343	chr2:212830200-212906355	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1012269	chr2:212837487-212915640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv525127	chr2:212839046-212916758	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875794	chr2:212842777-212885510	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
7	nsv875797	chr2:212847605-212888988	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv875798	chr2:212852669-212961992	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv875800	chr2:212856539-212896571	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv875801	chr2:212856539-212929014	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv460071	chr2:212860841-212888988	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
12	nsv584344	chr2:212860841-212888988	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
13	nsv460072	chr2:212864338-212891401	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv584345	chr2:212864338-212891401	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv875803	chr2:212874828-212969560	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212877600-212881200	Enhancers	Fetal Heart	heart
2	chr2:212878400-212881600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:212878600-212882600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:212880200-212880600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:212880200-212880600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:212880200-212880600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:212880200-212880600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:212880200-212880600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:212880200-212880600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:212880200-212880600	Enhancers	Brain Germinal Matrix	brain
11	chr2:212880200-212880600	Enhancers	HSMMtube	muscle
12	chr2:212880200-212881200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:212880200-212883800	Enhancers	Osteobl	bone
14	chr2:212880400-212880600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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

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