Variant report

Variant	rs17643040
Chromosome Location	chr6:133847686-133847687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133846018..133848760-chr6:133849768..133852151,2	K562	blood:
2	chr6:133846018..133848785-chr6:133849514..133851268,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11964505	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11964979	0.84[EUR][1000 genomes]
rs11968532	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11969376	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11969485	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11970169	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs12110683	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17053540	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17053541	1.00[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs17053542	0.97[EUR][1000 genomes]
rs17641157	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3777886	0.84[EUR][1000 genomes]
rs3777887	1.00[CEU][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs3822937	0.89[CEU][hapmap]
rs3822938	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4053065	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs41286206	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41286212	0.97[EUR][1000 genomes]
rs55865377	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55903152	0.93[EUR][1000 genomes]
rs59080198	0.97[EUR][1000 genomes]
rs60337650	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60797218	0.97[EUR][1000 genomes]
rs67351386	0.84[EUR][1000 genomes]
rs67720873	0.84[EUR][1000 genomes]
rs6911415	0.84[EUR][1000 genomes]
rs6911552	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6912858	0.84[EUR][1000 genomes]
rs6921393	0.83[EUR][1000 genomes]
rs6929938	1.00[CEU][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs6934616	0.93[EUR][1000 genomes]
rs73003668	0.83[EUR][1000 genomes]
rs7453259	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7743115	1.00[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs7749529	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7767007	0.93[EUR][1000 genomes]
rs7771096	0.93[EUR][1000 genomes]
rs7771144	0.93[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	nsv886681	chr6:133833284-133869617	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17643040	SAMD3	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133823200-133869600	Weak transcription	Psoas Muscle	Psoas
2	chr6:133824200-133854200	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:133824400-133854800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:133824400-133861600	Weak transcription	Ovary	ovary
5	chr6:133825600-133857200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:133826600-133862400	Weak transcription	Fetal Lung	lung
7	chr6:133836800-133854000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:133837400-133863600	Weak transcription	A549	lung
9	chr6:133844800-133847800	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:133845400-133856400	Weak transcription	Fetal Kidney	kidney
11	chr6:133845400-133860400	Weak transcription	HSMMtube	muscle
12	chr6:133846000-133847800	Strong transcription	Hela-S3	cervix
13	chr6:133846800-133848000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:133847400-133854000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:133847600-133848200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:133847600-133848200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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