Variant report

Variant	rs1299600
Chromosome Location	chr14:70373307-70373308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1291302	0.91[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1299600	ADAM20	cis	parietal	SCAN
rs1299600	ADAM20	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70364000-70387600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:70368600-70377400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70368800-70379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:70368800-70379600	Weak transcription	Liver	Liver
5	chr14:70369000-70375800	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:70369200-70376600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:70370600-70373400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:70370600-70373600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:70371400-70377000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:70371400-70377200	Weak transcription	HepG2	liver
11	chr14:70371600-70375200	Weak transcription	Brain Substantia Nigra	brain
12	chr14:70372000-70388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70372400-70382600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:70372600-70375400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:70372800-70373600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr14:70373000-70373400	Weak transcription	Spleen	Spleen
17	chr14:70373000-70374200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:70373000-70375200	Weak transcription	Hela-S3	cervix
19	chr14:70373200-70377000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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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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