Variant report

Variant	rs11072744
Chromosome Location	chr15:78510819-78510820
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11629576	0.86[CHB][hapmap]
rs11636312	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs28454342	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56287085	0.81[ASN][1000 genomes]
rs74024192	0.81[ASN][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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11072744	CIB2	cis	lymphoblastoid	seeQTL
rs11072744	C15orf27	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78495400-78511000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr15:78507200-78511000	Enhancers	Fetal Heart	heart
3	chr15:78509200-78511800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:78509400-78518200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:78509600-78513200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:78509600-78513200	Enhancers	Hela-S3	cervix
7	chr15:78509600-78513400	Weak transcription	Left Ventricle	heart
8	chr15:78509600-78515800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:78509800-78513000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr15:78510800-78511000	Enhancers	Colon Smooth Muscle	Colon
11	chr15:78510800-78511000	Enhancers	Duodenum Mucosa	Duodenum
12	chr15:78510800-78513200	Weak transcription	Ganglion Eminence 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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