Variant report

Variant	rs12529514
Chromosome Location	chr6:14096658-14096659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1028323	0.83[ASN][1000 genomes]
rs11753410	0.94[ASN][1000 genomes]
rs12190061	0.90[ASN][1000 genomes]
rs12530098	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13210531	0.81[ASN][1000 genomes]
rs16874672	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16874680	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2235369	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6926225	0.94[ASN][1000 genomes]
rs6929821	0.84[CHB][hapmap];0.95[CHD][hapmap];0.90[ASN][1000 genomes]
rs6936285	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72836542	0.97[ASN][1000 genomes]
rs853357	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9464657	0.94[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	nsv1027179	chr6:14058703-14223055	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Rheumatoid arthritis	22446963	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12529514	CD83	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14088600-14103400	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:14091400-14099800	Enhancers	Primary B cells from cord blood	blood
3	chr6:14092400-14101200	Weak transcription	Adipose Nuclei	Adipose
4	chr6:14093600-14096800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:14094000-14100200	Weak transcription	Spleen	Spleen
6	chr6:14095000-14100400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:14095200-14100200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:14095800-14096800	Enhancers	Fetal Muscle Trunk	muscle
9	chr6:14095800-14097600	Enhancers	GM12878-XiMat	blood
10	chr6:14096000-14097000	Enhancers	Fetal Muscle Leg	muscle
11	chr6:14096400-14099200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:14096600-14096800	Enhancers	Cortex derived primary cultured neurospheres	brain

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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