Variant report

Variant	rs1319514
Chromosome Location	chr7:124367812-124367813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs702426	0.86[ASN][1000 genomes]
rs7800504	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs849647	0.82[ASN][1000 genomes]
rs978543	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv1027091	chr7:124311742-124388908	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv1802433	chr7:124365503-124385252	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1319514	LOC154872	cis	cerebellum	SCAN
rs1319514	KCND2	cis	parietal	SCAN
rs1319514	C7orf58	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124363800-124368800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:124364800-124369600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:124365400-124370000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:124365600-124368600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:124365800-124369200	Enhancers	Brain Substantia Nigra	brain
6	chr7:124365800-124370600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:124366000-124368200	Enhancers	Brain Anterior Caudate	brain
8	chr7:124366000-124368800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:124366000-124369000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr7:124366400-124368000	Enhancers	Brain Angular Gyrus	brain
11	chr7:124366600-124369200	Enhancers	Brain Cingulate Gyrus	brain
12	chr7:124367200-124368000	Enhancers	Brain Hippocampus Middle	brain
13	chr7:124367400-124369200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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