Variant report

Variant	rs2789551
Chromosome Location	chr1:217194760-217194761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1004626	0.82[GIH][hapmap]
rs1339223	0.87[CEU][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1416541	0.87[CEU][hapmap];0.81[GIH][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes]
rs1890554	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs2027313	0.87[CEU][hapmap];0.86[AMR][1000 genomes]
rs2789552	0.87[CEU][hapmap];0.91[EUR][1000 genomes]
rs2789574	0.87[CEU][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2818759	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61816712	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468149	chr1:217134966-217203091	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv549204	chr1:217134966-217203091	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1008670	chr1:217155114-217206765	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1012243	chr1:217157000-217206765	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1006155	chr1:217157000-217215465	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1004880	chr1:217157748-217206765	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1011212	chr1:217162443-217206765	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:217192400-217199400	Weak transcription	Pancreas	Pancrea
2	chr1:217193000-217196400	Weak transcription	Fetal Heart	heart
3	chr1:217194400-217194800	Enhancers	Left Ventricle	heart
4	chr1:217194400-217195000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:217194400-217195000	Enhancers	Fetal Stomach	stomach
6	chr1:217194400-217196200	Enhancers	Fetal Lung	lung
7	chr1:217194400-217197000	Enhancers	Fetal Muscle Leg	muscle
8	chr1:217194600-217194800	Enhancers	Right Atrium	heart
9	chr1:217194600-217195000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:217194600-217195000	Enhancers	Brain Substantia Nigra	brain
11	chr1:217194600-217196200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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