Variant report

Variant	rs532373
Chromosome Location	chr11:64799789-64799790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64799194..64801472-chr11:64804094..64806308,2	MCF-7	breast:
2	chr11:64781097..64784077-chr11:64798309..64801053,4	MCF-7	breast:
3	chr11:64798286..64800870-chr11:64805869..64808336,2	K562	blood:
4	chr11:64798559..64800462-chr11:64801916..64804086,2	K562	blood:
5	chr11:64794902..64797457-chr11:64797903..64800553,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213465	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000110025	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10897543	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11231929	0.96[CEU][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196048	0.96[CEU][hapmap];0.81[ASN][1000 genomes]
rs3862374	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs477539	0.96[CEU][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs484182	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs489489	0.96[CEU][hapmap];0.81[ASN][1000 genomes]
rs496427	0.83[ASN][1000 genomes]
rs498636	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs534236	0.92[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548150	0.96[CEU][hapmap];0.83[ASN][1000 genomes]
rs559644	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs564966	0.92[CEU][hapmap];0.81[ASN][1000 genomes]
rs598241	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs653111	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6591869	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947799	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs532373	SNX15	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64795200-64799800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:64795200-64808000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:64795400-64808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:64795600-64808000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:64795800-64802400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:64795800-64805000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:64795800-64807800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:64795800-64807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:64795800-64808000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:64795800-64808000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:64796000-64799800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:64796000-64800600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:64796000-64801400	Weak transcription	Aorta	Aorta
14	chr11:64796000-64803000	Weak transcription	HSMMtube	muscle
15	chr11:64796000-64805000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:64796000-64805000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:64796000-64807400	Weak transcription	Stomach Mucosa	stomach
18	chr11:64796000-64807600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:64796000-64807800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:64796000-64807800	Weak transcription	Fetal Kidney	kidney
21	chr11:64796000-64808000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:64796200-64800000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:64796200-64801600	Weak transcription	Brain Substantia Nigra	brain
24	chr11:64796200-64802000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:64796200-64803000	Weak transcription	NHLF	lung
26	chr11:64796200-64804200	Weak transcription	Fetal Heart	heart
27	chr11:64796200-64804400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:64796200-64805000	Weak transcription	NHDF-Ad	bronchial
29	chr11:64796200-64805600	Weak transcription	NH-A	brain
30	chr11:64796200-64807200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:64796200-64807200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:64796200-64807200	Weak transcription	K562	blood
33	chr11:64796200-64807800	Weak transcription	Small Intestine	intestine
34	chr11:64796200-64807800	Weak transcription	A549	lung
35	chr11:64796200-64807800	Weak transcription	HMEC	breast
36	chr11:64796200-64807800	Weak transcription	HUVEC	blood vessel
37	chr11:64796200-64807800	Weak transcription	NHEK	skin
38	chr11:64796200-64808000	Weak transcription	Osteobl	bone
39	chr11:64796400-64799800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:64796400-64805400	Weak transcription	HSMM	muscle
41	chr11:64796400-64805800	Weak transcription	GM12878-XiMat	blood
42	chr11:64796400-64807400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:64796400-64807400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:64796400-64807600	Weak transcription	Fetal Brain Male	brain
45	chr11:64796400-64807800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr11:64796600-64807600	Strong transcription	Fetal Intestine Small	intestine
47	chr11:64796800-64806000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr11:64796800-64807400	Strong transcription	Fetal Muscle Leg	muscle
49	chr11:64796800-64808000	Strong transcription	Fetal Stomach	stomach
50	chr11:64797000-64799800	Weak transcription	Pancreas	Pancrea

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