Variant report

Variant	rs284387
Chromosome Location	chr7:121896770-121896771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1158269	0.83[EUR][1000 genomes]
rs12672571	0.93[CEU][hapmap];0.82[GIH][hapmap];0.90[TSI][hapmap]
rs1443747	0.81[EUR][1000 genomes]
rs284366	0.83[EUR][1000 genomes]
rs284377	0.82[EUR][1000 genomes]
rs284380	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs284391	0.86[EUR][1000 genomes]
rs284395	0.86[EUR][1000 genomes]
rs28665690	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2896312	0.80[EUR][1000 genomes]
rs533552	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62474308	0.83[EUR][1000 genomes]
rs62474309	0.83[EUR][1000 genomes]
rs62474316	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs671640	0.83[EUR][1000 genomes]
rs7780817	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034624	chr7:121813180-121899703	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1034797	chr7:121815255-121897109	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1028221	chr7:121818974-121899162	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1024868	chr7:121818974-121899703	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1024364	chr7:121843701-121916791	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1020645	chr7:121843701-121929598	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1034945	chr7:121843701-121933166	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs284387	TSPAN12	cis	parietal	SCAN
rs284387	CADPS2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121894800-121896800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:121895200-121896800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:121895600-121900400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:121896000-121896800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:121896000-121900200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:121896000-121901400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:121896200-121896800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:121896400-121900200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:121896400-121900400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:121896400-121900400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:121896600-121898400	Enhancers	Placenta	Placenta
12	chr7:121896600-121900200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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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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