Variant report

Variant	rs12285944
Chromosome Location	chr11:16385558-16385559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12278205	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279471	1.00[AMR][1000 genomes]
rs12284936	0.80[YRI][hapmap]
rs12295257	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12295262	1.00[AMR][1000 genomes]
rs2352238	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr11:16379000-16387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:16379200-16387400	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:16379800-16386600	Weak transcription	Fetal Brain Female	brain
4	chr11:16380400-16387200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:16381600-16386000	Enhancers	K562	blood
6	chr11:16383800-16386000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:16384600-16385800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:16385000-16387600	Enhancers	Fetal Heart	heart
9	chr11:16385000-16389200	Enhancers	Fetal Intestine Large	intestine
10	chr11:16385000-16390200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:16385400-16385600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:16385400-16386000	Enhancers	Right Atrium	heart
13	chr11:16385400-16386400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:16385400-16388200	Enhancers	Fetal Intestine Small	intestine

Quick Search:

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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