Variant report

Variant	rs17662766
Chromosome Location	chr5:151521211-151521212
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:151520907..151523004-chr5:151546531..151548901,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10515653	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72804321	0.84[AFR][1000 genomes]
rs73274997	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760935	chr5:151463117-151586051	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv883039	chr5:151471642-151540888	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv883040	chr5:151471642-151596273	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv5072	chr5:151490271-151530419	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv600042	chr5:151508799-151522878	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv883041	chr5:151508799-151522878	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1032207	chr5:151511045-151522383	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1016168	chr5:151511636-151522383	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv436988	chr5:151513383-151522864	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv883042	chr5:151513383-151522878	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv462490	chr5:151513383-151527831	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv600045	chr5:151513383-151527831	Enhancers Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv1028974	chr5:151513821-151524210	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv600049	chr5:151514171-151522878	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
15	nsv883043	chr5:151514171-151522878	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
16	nsv883044	chr5:151514171-151524210	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
17	nsv600050	chr5:151514171-151525147	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
18	nsv883045	chr5:151514171-151540888	Enhancers Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv511280	chr5:151514484-151522878	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
20	nsv600060	chr5:151514956-151522878	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
21	nsv600061	chr5:151514956-151524210	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
22	nsv600062	chr5:151514956-151525147	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
23	nsv600063	chr5:151514956-151527831	Enhancers Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
24	nsv883046	chr5:151514956-151540888	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv516251	chr5:151514956-151543128	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv600070	chr5:151515230-151522878	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
27	nsv600071	chr5:151515230-151524210	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
28	nsv600082	chr5:151516086-151524210	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
29	nsv883047	chr5:151516086-151540888	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv600086	chr5:151516156-151522878	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17662766	SH3TC2	cis	cerebellum	SCAN
rs17662766	PDE6A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151518600-151531200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:151521000-151522400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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