Variant report

Variant	rs12283319
Chromosome Location	chr11:59456348-59456349
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11229984	1.00[AMR][1000 genomes]
rs11230008	0.92[AFR][1000 genomes]
rs11230060	1.00[AMR][1000 genomes]
rs12272496	1.00[AMR][1000 genomes]
rs12275935	1.00[AMR][1000 genomes]
rs12276470	1.00[AMR][1000 genomes]
rs12280000	1.00[AFR][1000 genomes]
rs12288523	1.00[AMR][1000 genomes]
rs12291351	1.00[AMR][1000 genomes]
rs12292617	1.00[AMR][1000 genomes]
rs12293459	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295294	1.00[AMR][1000 genomes]
rs28571182	1.00[AMR][1000 genomes]
rs28573682	1.00[AMR][1000 genomes]
rs57137541	1.00[AMR][1000 genomes]
rs58485629	1.00[AMR][1000 genomes]
rs60434270	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129130	1.00[AMR][1000 genomes]
rs73484858	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486922	1.00[AMR][1000 genomes]
rs73488876	1.00[AMR][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	nsv517878	chr11:59441271-59480969	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59448800-59459600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:59455000-59457000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr11:59455200-59456800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:59455200-59457000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:59455200-59457000	Enhancers	Fetal Intestine Small	intestine
6	chr11:59455200-59457400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr11:59455400-59456400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:59455400-59456800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:59455600-59456600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:59455600-59457400	Enhancers	Fetal Intestine Large	intestine
11	chr11:59455800-59456600	Enhancers	Colonic Mucosa	Colon
12	chr11:59456200-59456800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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