Variant report

Variant	rs1530363
Chromosome Location	chr17:38582776-38582777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38581797..38583690-chr17:38586933..38588887,2	MCF-7	breast:
2	chr17:38581802..38583410-chr17:38598486..38600743,2	MCF-7	breast:
3	chr17:38582049..38584776-chr17:38656368..38658655,2	MCF-7	breast:
4	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:
5	chr17:38575637..38578772-chr17:38581843..38584982,3	MCF-7	breast:
6	chr17:38472561..38475218-chr17:38581308..38584025,2	MCF-7	breast:
7	chr17:38581114..38584947-chr17:38588775..38591436,4	K562	blood:
8	chr17:38580560..38584947-chr17:38585760..38591436,7	K562	blood:
9	chr17:38579397..38583987-chr17:38597379..38601075,4	K562	blood:
10	chr17:38571103..38577451-chr17:38579534..38584993,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000131746	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000141753	Chromatin interaction
ENSG00000131747	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16965783	0.87[CEU][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs2586112	0.81[CEU][hapmap];0.98[GIH][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs2715556	0.87[CEU][hapmap];0.98[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs2715557	0.88[EUR][1000 genomes]
rs471692	0.81[CEU][hapmap];0.98[GIH][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs473198	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474510	0.94[EUR][1000 genomes]
rs495511	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs507564	0.91[EUR][1000 genomes]
rs525217	0.91[EUR][1000 genomes]
rs525812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528045	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs552857	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs557498	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs558068	0.85[EUR][1000 genomes]
rs62066565	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1530363	RASL10B	cis	cerebellum	SCAN
rs1530363	MYO19	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38575400-38588600	Weak transcription	Fetal Stomach	stomach
2	chr17:38576600-38583400	Weak transcription	Lung	lung
3	chr17:38579600-38598800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:38580800-38584600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr17:38581000-38584400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:38581000-38584600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr17:38581200-38584400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:38581200-38584600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr17:38581200-38584600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr17:38581400-38584400	Enhancers	Fetal Thymus	thymus
11	chr17:38581400-38584600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr17:38581800-38582800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr17:38581800-38583000	Enhancers	Primary hematopoietic stem cells	blood
14	chr17:38581800-38583400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:38581800-38583600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:38581800-38584000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr17:38581800-38584000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:38581800-38584400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr17:38581800-38584600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr17:38581800-38584600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr17:38582000-38582800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:38582000-38582800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr17:38582000-38582800	Enhancers	Fetal Muscle Leg	muscle
24	chr17:38582000-38582800	Enhancers	Spleen	Spleen
25	chr17:38582000-38583000	Enhancers	K562	blood
26	chr17:38582000-38583800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:38582000-38584000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:38582000-38584000	Enhancers	Thymus	Thymus
29	chr17:38582000-38584600	Enhancers	Dnd41	blood
30	chr17:38582200-38583000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr17:38582200-38584600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr17:38582400-38583600	Enhancers	HepG2	liver
33	chr17:38582600-38582800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr17:38582600-38583800	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr17:38582600-38583800	Enhancers	GM12878-XiMat	blood
36	chr17:38582600-38587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links