Variant report

Variant	rs2104448
Chromosome Location	chr1:62854808-62854809
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10789110	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10889325	0.89[ASN][1000 genomes]
rs10889326	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1473754	0.89[ASN][1000 genomes]
rs17123603	0.91[CHD][hapmap];1.00[JPT][hapmap]
rs1886829	0.89[ASN][1000 genomes]
rs2095403	0.89[ASN][1000 genomes]
rs3861942	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4514267	0.89[ASN][1000 genomes]
rs4915615	0.89[ASN][1000 genomes]
rs4915833	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4915834	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4915837	0.89[ASN][1000 genomes]
rs6587974	0.81[ASW][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap]
rs6587975	0.81[ASW][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap]
rs6687215	0.93[YRI][hapmap]
rs6693540	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7512888	0.89[ASN][1000 genomes]
rs7543765	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62848000-62855400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:62848000-62871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:62850600-62855400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:62852000-62856600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:62852800-62856400	Weak transcription	Fetal Stomach	stomach
6	chr1:62853600-62856800	Weak transcription	HepG2	liver
7	chr1:62854600-62855000	Enhancers	Brain Hippocampus Middle	brain
8	chr1:62854800-62855200	Enhancers	Hela-S3	cervix

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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