Variant report

Variant	rs517811
Chromosome Location	chr8:102944863-102944864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs516608	0.81[YRI][hapmap]
rs9297315	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Cognitive performance	20125193	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs517811	NCALD	cis	cerebellum	SCAN
rs517811	NCALD	cis	lymphoblastoid	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102920600-102956600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:102942800-102947200	Enhancers	Fetal Heart	heart
3	chr8:102943400-102948200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:102943400-102948200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:102943800-102945000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:102943800-102945400	Weak transcription	Spleen	Spleen
7	chr8:102944200-102945000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:102944400-102945600	Weak transcription	Fetal Brain Female	brain
9	chr8:102944400-102953600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:102944400-102964000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:102944600-102945800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:102944600-102946000	Weak transcription	Left Ventricle	heart
13	chr8:102944600-102947800	Weak transcription	Psoas Muscle	Psoas
14	chr8:102944600-102952000	Weak transcription	Ovary	ovary

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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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