Variant report

Variant	rs11632096
Chromosome Location	chr15:56210499-56210500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr15:56209780-56210508	Hela-S3	cervix:	n/a	n/a
2	MAFK	chr15:56210053-56210781	Hela-S3	cervix:	n/a	n/a
3	GATA3	chr15:56209986-56210542	SK-N-SH	brain:	n/a	n/a
4	TBP	chr15:56210113-56210506	Hela-S3	cervix:	n/a	n/a
5	TCF12	chr15:56209915-56210618	A549	lung:	n/a	chr15:56209997-56210006
6	USF1	chr15:56210057-56210517	A549	lung:	n/a	n/a
7	JUND	chr15:56210012-56210522	Hela-S3	cervix:	n/a	chr15:56210358-56210366
8	SMC3	chr15:56209970-56210538	Hela-S3	cervix:	n/a	chr15:56210212-56210226 chr15:56210218-56210226
9	MYC	chr15:56210088-56210504	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr15:56210049-56210509	MCF10A-Er-Src	breast:	n/a	chr15:56210358-56210366
11	RAD21	chr15:56209929-56210544	A549	lung:	n/a	chr15:56210211-56210224 chr15:56210208-56210227
12	GATA3	chr15:56210095-56210500	MCF-7	breast:	n/a	n/a
13	NR3C1	chr15:56210114-56210521	A549	lung:	n/a	chr15:56210397-56210411 chr15:56210182-56210189
14	FOS	chr15:56210052-56210522	MCF10A-Er-Src	breast:	n/a	chr15:56210358-56210366
15	FOS	chr15:56209968-56210556	MCF10A-Er-Src	breast:	n/a	chr15:56210358-56210366
16	CTCF	chr15:56207813-56210860	A549	lung:	n/a	chr15:56210210-56210228 chr15:56210216-56210225 chr15:56210212-56210225
17	POLR2A	chr15:56210090-56210613	MCF10A-Er-Src	breast:	n/a	n/a
18	BRCA1	chr15:56209349-56210506	Hela-S3	cervix:	n/a	n/a
19	FOS	chr15:56210149-56210519	Hela-S3	cervix:	n/a	chr15:56210358-56210366
20	FOXA2	chr15:56209958-56210531	A549	lung:	n/a	chr15:56209997-56210009 chr15:56210450-56210462
21	GATA3	chr15:56209854-56210725	A549	lung:	n/a	n/a
22	ARID3A	chr15:56210039-56210686	HepG2	liver:	n/a	chr15:56210564-56210580
23	REST	chr15:56209866-56210613	A549	lung:	n/a	n/a
24	MAX	chr15:56209906-56210629	A549	lung:	n/a	n/a
25	FOS	chr15:56210090-56210510	MCF10A-Er-Src	breast:	n/a	chr15:56210358-56210366
26	CEBPB	chr15:56209924-56210585	A549	lung:	n/a	n/a
27	RFX5	chr15:56209998-56210642	Hela-S3	cervix:	n/a	n/a
28	SP1	chr15:56209994-56210603	A549	lung:	n/a	n/a
29	MYC	chr15:56210071-56210519	MCF10A-Er-Src	breast:	n/a	n/a
30	SIX5	chr15:56209764-56210605	A549	lung:	n/a	n/a
31	FOSL2	chr15:56210043-56210516	A549	lung:	n/a	chr15:56210358-56210366
32	RAD21	chr15:56209716-56210655	SK-N-SH	brain:	n/a	chr15:56210211-56210224 chr15:56210208-56210227
33	FOXA1	chr15:56210050-56210535	HepG2	liver:	n/a	chr15:56210450-56210462 chr15:56210310-56210325
34	EP300	chr15:56209973-56210573	A549	lung:	n/a	chr15:56210315-56210325 chr15:56209996-56210006
35	STAT3	chr15:56210058-56210503	MCF10A-Er-Src	breast:	n/a	n/a
36	EP300	chr15:56210030-56210530	Hela-S3	cervix:	n/a	chr15:56210315-56210325
37	FOXA1	chr15:56210010-56210557	HepG2	liver:	n/a	chr15:56210450-56210462 chr15:56210310-56210325
38	JUN	chr15:56210249-56210612	K562	blood:	n/a	chr15:56210358-56210366
39	EP300	chr15:56209869-56210606	A549	lung:	n/a	chr15:56210315-56210325 chr15:56209996-56210006
40	FOXA2	chr15:56209934-56210681	A549	lung:	n/a	chr15:56209997-56210009 chr15:56210450-56210462
41	JUN	chr15:56210079-56210592	Hela-S3	cervix:	n/a	chr15:56210358-56210366
42	POLR2A	chr15:56210034-56210550	PANC-1	pancreas:	n/a	n/a
43	STAT3	chr15:56209989-56210500	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr15:56210009-56210520	A549	lung:	n/a	chr15:56210210-56210228 chr15:56210216-56210225 chr15:56210212-56210225
45	MAX	chr15:56209953-56210614	A549	lung:	n/a	n/a
46	STAT3	chr15:56210040-56210507	MCF10A-Er-Src	breast:	n/a	n/a
47	SP1	chr15:56209897-56210583	A549	lung:	n/a	n/a
48	RAD21	chr15:56210009-56210509	Hela-S3	cervix:	n/a	chr15:56210211-56210224 chr15:56210208-56210227
49	STAT3	chr15:56210113-56210516	MCF10A-Er-Src	breast:	n/a	n/a
50	CEBPB	chr15:56210027-56210512	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56209638..56212268-chr15:56534926..56537157,2	MCF-7	breast:

Variant related genes	Relation type
NEDD4	TF binding region
ENSG00000151575	Chromatin interaction
ENSG00000181827	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10851599	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11071228	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11071231	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11071234	0.83[ASN][1000 genomes]
rs11632295	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11633263	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11633313	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11636123	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11637576	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12102014	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12102020	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12232351	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12595359	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12595728	0.86[EUR][1000 genomes]
rs1509406	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16976600	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1912398	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1912402	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2089635	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2089636	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2102465	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2288344	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28660477	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28770330	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28773028	0.88[EUR][1000 genomes]
rs28778631	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28825119	0.86[EUR][1000 genomes]
rs28863270	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56333939	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60482539	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66462353	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67505007	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7162435	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7175686	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7176225	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7179116	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7182397	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72732282	0.83[EUR][1000 genomes]
rs72734373	0.88[EUR][1000 genomes]
rs8024944	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8026172	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8029247	0.83[EUR][1000 genomes]
rs8032158	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8038646	0.88[EUR][1000 genomes]
rs8038884	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9920158	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9920159	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9920184	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv569542	chr15:56185262-56210929	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11632096	PRTG	cis	Artery Tibial	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56176000-56216200	Weak transcription	Fetal Intestine Small	intestine
2	chr15:56188600-56218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:56190000-56220000	Weak transcription	Pancreas	Pancrea
4	chr15:56190200-56221200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:56190400-56219800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:56200200-56213200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:56200800-56218000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:56201000-56230000	Weak transcription	Fetal Intestine Large	intestine
9	chr15:56201200-56217200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:56206800-56217800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:56207600-56221200	Weak transcription	Right Ventricle	heart
12	chr15:56207800-56210600	Enhancers	HMEC	breast
13	chr15:56208600-56218000	Weak transcription	Esophagus	oesophagus
14	chr15:56208800-56221600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:56208800-56230000	Weak transcription	Liver	Liver
16	chr15:56209000-56218400	Weak transcription	Fetal Stomach	stomach
17	chr15:56209000-56230400	Weak transcription	Primary T cells from cord blood	blood
18	chr15:56209200-56210600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:56209200-56221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:56209200-56221600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr15:56209200-56230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:56209200-56230200	Weak transcription	Aorta	Aorta
23	chr15:56209400-56210800	Enhancers	HUVEC	blood vessel
24	chr15:56209400-56210800	Enhancers	NHDF-Ad	bronchial
25	chr15:56209400-56211800	Enhancers	Hela-S3	cervix
26	chr15:56209600-56210800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:56209600-56210800	Enhancers	Stomach Mucosa	stomach
28	chr15:56209600-56211000	Enhancers	NHEK	skin
29	chr15:56209600-56216200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:56209600-56230800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr15:56209600-56247400	Weak transcription	Psoas Muscle	Psoas
32	chr15:56209800-56211000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr15:56210000-56211000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:56210000-56211000	Enhancers	NHLF	lung
35	chr15:56210000-56216400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:56210200-56210800	Enhancers	Osteobl	bone
37	chr15:56210200-56211600	Enhancers	A549	lung
38	chr15:56210200-56221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:56210200-56229600	Weak transcription	HSMMtube	muscle
40	chr15:56210200-56229800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr15:56210400-56211000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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