Variant report

Variant	rs9908767
Chromosome Location	chr17:17005086-17005087
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	chr17:16996588..16998552-chr17:17003380..17006242,3	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10852847	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11078374	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11656868	1.00[CHB][hapmap]
rs11871902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090018	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271520	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2349646	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28461224	1.00[ASN][1000 genomes]
rs4247118	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4247120	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4275914	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514740	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4985696	1.00[ASN][1000 genomes]
rs4985701	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985702	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985717	1.00[ASN][1000 genomes]
rs4985718	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4985740	1.00[CHB][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs4985746	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985778	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6502563	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7206981	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207485	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7208929	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7208973	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217091	1.00[CHB][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7220827	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7221842	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7222311	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064550	0.86[CEU][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072184	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8073842	1.00[ASW][hapmap];1.00[CHB][hapmap];0.84[MEX][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8079563	1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9893911	1.00[ASN][1000 genomes]
rs9898995	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914671	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	nsv1059280	chr17:16975059-17017957	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs9908767	FBXO48	trans	cerebellum	SCAN
rs9908767	M-RIP	cis	multi-tissue	Pritchard
rs9908767	RNF112	cis	cerebellum	SCAN
rs9908767	ZNF841	trans	cerebellum	SCAN
rs9908767	FLCN	cis	cerebellum	SCAN
rs9908767	FLCN	cis	parietal	SCAN
rs9908767	UBB	cis	cerebellum	SCAN
rs9908767	ULK2	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16986800-17013600	Weak transcription	HUVEC	blood vessel
2	chr17:16992400-17010000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr17:16993400-17011400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr17:16994600-17011600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr17:16996400-17006200	Weak transcription	Liver	Liver
6	chr17:16997000-17016600	Enhancers	Left Ventricle	heart
7	chr17:16997400-17006200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:16997400-17010000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:16998200-17016200	Enhancers	Fetal Heart	heart
10	chr17:16998600-17006800	Enhancers	Psoas Muscle	Psoas
11	chr17:16998600-17015400	Genic enhancers	Fetal Muscle Leg	muscle
12	chr17:16998600-17016600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr17:16999000-17012800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr17:16999200-17006400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:16999600-17008200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr17:17000200-17005600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr17:17000200-17012600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr17:17000200-17018200	Weak transcription	NH-A	brain
19	chr17:17000600-17008000	Strong transcription	NHEK	skin
20	chr17:17000600-17009800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:17000600-17009800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr17:17001400-17007000	Weak transcription	Primary B cells from cord blood	blood
23	chr17:17001600-17005600	Enhancers	Right Ventricle	heart
24	chr17:17001600-17010200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr17:17001600-17010800	Weak transcription	Aorta	Aorta
26	chr17:17001600-17011400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr17:17001800-17005600	Enhancers	Adipose Nuclei	Adipose
28	chr17:17001800-17006600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr17:17001800-17009200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:17001800-17009800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr17:17001800-17012800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr17:17002000-17005600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr17:17002000-17005800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr17:17002000-17006400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:17002000-17008400	Weak transcription	Hela-S3	cervix
36	chr17:17002000-17010200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr17:17002000-17010600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr17:17002000-17010600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:17002000-17011400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr17:17002200-17005800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:17002200-17005800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr17:17002400-17006200	Strong transcription	HMEC	breast
43	chr17:17002400-17007400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr17:17002400-17011600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr17:17002600-17005600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:17002600-17005600	Weak transcription	Brain Angular Gyrus	brain
47	chr17:17002600-17005600	Weak transcription	Fetal Brain Female	brain
48	chr17:17002600-17005800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr17:17002600-17006000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr17:17002600-17006000	Weak transcription	Brain Substantia Nigra	brain

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