Variant report

Variant	rs7116484
Chromosome Location	chr11:59448068-59448069
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59435458..59437530-chr11:59446685..59449413,3	K562	blood:
2	chr11:59303328..59305254-chr11:59447598..59450069,2	K562	blood:
3	chr11:59447806..59448672-chr11:59569775..59570386,2	MCF-7	breast:
4	chr11:59304452..59305342-chr11:59447720..59448612,3	K562	blood:
5	chr11:58938973..58939965-chr11:59447518..59448398,3	K562	blood:
6	chr11:59197459..59198444-chr11:59447527..59448507,2	K562	blood:
7	chr11:59446578..59448587-chr11:59521403..59523165,2	K562	blood:
8	chr11:59380994..59383091-chr11:59446545..59448432,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000166900	Chromatin interaction
ENSG00000255355	Chromatin interaction
ENSG00000166889	Chromatin interaction
ENSG00000254477	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10896979	0.82[TSI][hapmap]
rs11229983	0.82[TSI][hapmap]
rs1545527	0.82[TSI][hapmap]
rs17501251	0.82[TSI][hapmap]
rs2186411	0.85[CHD][hapmap]
rs518427	0.82[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs7116107	0.82[TSI][hapmap]
rs7120079	0.82[TSI][hapmap]
rs7945858	0.83[CEU][hapmap];0.83[CHB][hapmap];0.86[YRI][hapmap]

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	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7116484	DAK	cis	cerebellum	SCAN
rs7116484	SLC43A3	cis	parietal	SCAN
rs7116484	MED19	cis	parietal	SCAN
rs7116484	OR5M9	cis	parietal	SCAN
rs7116484	MS4A6A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59446800-59449600	Enhancers	Fetal Intestine Small	intestine
2	chr11:59447400-59448800	Enhancers	Fetal Intestine Large	intestine
3	chr11:59447600-59449000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:59447800-59448200	Enhancers	Liver	Liver
5	chr11:59447800-59448200	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:59447800-59448800	Enhancers	Stomach Mucosa	stomach
7	chr11:59447800-59448800	Enhancers	HepG2	liver
8	chr11:59447800-59450600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:59448000-59448200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:59448000-59448200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:59448000-59448400	Enhancers	K562	blood
12	chr11:59448000-59448800	Weak transcription	Rectal Mucosa Donor 31	rectum

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

what's new

Quick links