Variant report

Variant	rs9479919
Chromosome Location	chr6:150520315-150520316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150510588..150515411-chr6:150515857..150521257,7	MCF-7	breast:
2	chr6:150518298..150521152-chr6:150523437..150526060,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10457859	0.93[EUR][1000 genomes]
rs12191405	0.93[EUR][1000 genomes]
rs12201610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12202328	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs12211097	0.93[EUR][1000 genomes]
rs12211587	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs59114788	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6907224	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746984	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9478557	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9479904	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv830843	chr6:150517411-150691173	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9479919	SAMD5	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150514800-150524000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:150517600-150529200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:150518000-150522200	Enhancers	Left Ventricle	heart
4	chr6:150518200-150520800	Active TSS	Duodenum Mucosa	Duodenum
5	chr6:150518200-150523000	Weak transcription	Stomach Mucosa	stomach
6	chr6:150518200-150530800	Enhancers	Fetal Heart	heart
7	chr6:150518400-150521400	Weak transcription	Esophagus	oesophagus
8	chr6:150518600-150521400	Weak transcription	HMEC	breast
9	chr6:150518600-150521800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:150518600-150522400	Weak transcription	Pancreas	Pancrea
11	chr6:150518600-150523200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:150518600-150523200	Weak transcription	Lung	lung
13	chr6:150518800-150520400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:150518800-150521400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:150518800-150521600	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:150518800-150521600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:150519000-150520800	Weak transcription	Colonic Mucosa	Colon
18	chr6:150519400-150521000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:150519400-150522000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr6:150519600-150522000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:150519800-150520600	Enhancers	Right Ventricle	heart
22	chr6:150519800-150524200	Enhancers	K562	blood
23	chr6:150519800-150524800	Enhancers	Fetal Intestine Large	intestine
24	chr6:150520000-150520400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:150520000-150521000	Enhancers	Psoas Muscle	Psoas
26	chr6:150520000-150521200	Weak transcription	Fetal Brain Male	brain
27	chr6:150520000-150521600	Weak transcription	Right Atrium	heart
28	chr6:150520000-150521800	Enhancers	NHEK	skin
29	chr6:150520200-150524400	Enhancers	Fetal Intestine Small	intestine
30	chr6:150520200-150525200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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