Variant report

Variant	rs6944990
Chromosome Location	chr7:122003582-122003583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10216012	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10216014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10229985	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10238734	0.87[ASN][1000 genomes]
rs10247924	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10252242	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10277721	0.87[ASN][1000 genomes]
rs10277785	0.87[ASN][1000 genomes]
rs10280017	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280231	1.00[CEU][hapmap];0.97[GIH][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10280555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10487223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12532356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12538206	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667803	0.96[CEU][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1443752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16870811	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17144227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17144315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17144328	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17144333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17364956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17365158	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17461878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17462307	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17462383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17462418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17462508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1859351	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1899691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1899692	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs45489900	0.94[ASN][1000 genomes]
rs59557479	0.87[ASN][1000 genomes]
rs59563343	0.94[ASN][1000 genomes]
rs62473063	0.87[ASN][1000 genomes]
rs62473065	0.87[ASN][1000 genomes]
rs62473067	0.81[ASN][1000 genomes]
rs62473069	0.87[ASN][1000 genomes]
rs62476011	0.81[ASN][1000 genomes]
rs6945851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6950106	0.87[ASN][1000 genomes]
rs6963328	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6963586	0.87[ASN][1000 genomes]
rs6967614	0.87[ASN][1000 genomes]
rs6967924	0.87[ASN][1000 genomes]
rs873376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs873377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs873378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs886497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9656292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][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
rs6944990	SLC13A1	cis	cerebellum	SCAN

Chromatin state (count:15 , 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	chr7:122000600-122004600	Weak transcription	Spleen	Spleen
5	chr7:122002200-122003600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:122002200-122003800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:122002600-122005000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:122002600-122005200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:122003000-122003800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:122003200-122003600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:122003200-122003600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:122003200-122061000	Weak transcription	Aorta	Aorta
13	chr7:122003400-122003600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:122003400-122004000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:122003400-122005000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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