Variant report

Variant	rs10280231
Chromosome Location	chr7:122006884-122006885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10230333	0.86[ASN][1000 genomes]
rs10241224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10252242	0.92[EUR][1000 genomes]
rs10280017	0.93[EUR][1000 genomes]
rs12538206	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12667803	0.96[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144341	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17365759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1859350	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6944990	1.00[CEU][hapmap];0.97[GIH][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10280231	SLC13A1	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121957400-122051200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:121980800-122018600	Weak transcription	Left Ventricle	heart
3	chr7:121998200-122025600	Weak transcription	Fetal Lung	lung
4	chr7:122003200-122061000	Weak transcription	Aorta	Aorta
5	chr7:122003600-122012200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:122003600-122013200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:122003800-122009600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:122005400-122009600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:122005800-122009600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:122005800-122012000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:122006200-122009600	Weak transcription	iPS-18 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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