Variant report

Variant	esv3427661
Chromosome Location	chr15:76063097-76066495
allele	n/a
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	E2F6	chr15:76063544-76063812	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr15:76063561-76063822	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOSL2	chr15:76063373-76063831	HepG2	liver:	n/a	n/a
4	FOSL2	chr15:76066425-76066920	HepG2	liver:	n/a	n/a
5	FOXA1	chr15:76063415-76063732	HepG2	liver:	n/a	n/a
6	FOXA1	chr15:76063183-76063831	HepG2	liver:	n/a	n/a
7	FOXA1	chr15:76063244-76063775	HepG2	liver:	n/a	n/a
8	FOXA1	chr15:76063391-76063623	HepG2	liver:	n/a	n/a
9	FOXA2	chr15:76063334-76063730	A549	lung:	n/a	n/a
10	FOXA2	chr15:76063433-76063616	HepG2	liver:	n/a	n/a
11	GATA2	chr15:76063814-76064139	K562	blood:	n/a	chr15:76064007-76064019 chr15:76063892-76063899
12	HDAC2	chr15:76063600-76063810	H1-hESC	embryonic stem cell:	n/a	n/a
13	HEY1	chr15:76066471-76066749	HepG2	liver:	n/a	n/a
14	HEY1	chr15:76063397-76063766	HepG2	liver:	n/a	n/a
15	HEY1	chr15:76063488-76063642	HepG2	liver:	n/a	n/a
16	HNF4A	chr15:76063437-76063686	HepG2	liver:	n/a	chr15:76063531-76063543 chr15:76063530-76063545 chr15:76063530-76063545 chr15:76063530-76063544
17	JUND	chr15:76063435-76063641	HepG2	liver:	n/a	n/a
18	JUND	chr15:76063399-76063657	HepG2	liver:	n/a	n/a
19	MAX	chr15:76063450-76063818	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr15:76063499-76063812	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr15:76063558-76063826	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYBL2	chr15:76066459-76066954	HepG2	liver:	n/a	n/a
23	POLR2A	chr15:76063492-76063797	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr15:76063411-76063900	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr15:76063958-76064094	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr15:76063340-76064387	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr15:76063413-76063796	SK-N-MC	brain:	n/a	n/a
28	POU2F2	chr15:76063460-76064151	GM12878	blood:	n/a	n/a
29	RXRA	chr15:76063864-76064329	HepG2	liver:	n/a	n/a
30	RXRA	chr15:76063389-76063760	HepG2	liver:	n/a	chr15:76063651-76063660
31	SIN3AK20	chr15:76063524-76063642	HepG2	liver:	n/a	n/a
32	SP1	chr15:76063292-76063818	HepG2	liver:	n/a	chr15:76063422-76063436
33	SP1	chr15:76063489-76063820	H1-hESC	embryonic stem cell:	n/a	n/a
34	SP1	chr15:76066370-76066902	HepG2	liver:	n/a	n/a
35	SPI1	chr15:76063412-76063785	GM12891	blood:	n/a	chr15:76063595-76063604 chr15:76063593-76063606
36	SPI1	chr15:76063478-76063743	GM12878	blood:	n/a	chr15:76063595-76063604 chr15:76063593-76063606
37	SPI1	chr15:76063442-76063744	K562	blood:	n/a	chr15:76063595-76063604 chr15:76063593-76063606
38	SPI1	chr15:76063464-76063714	K562	blood:	n/a	chr15:76063595-76063604 chr15:76063593-76063606
39	TCF12	chr15:76063496-76063699	H1-hESC	embryonic stem cell:	n/a	n/a
40	TCF12	chr15:76063482-76063659	GM12878	blood:	n/a	n/a
41	TCF12	chr15:76063364-76063710	HepG2	liver:	n/a	n/a
42	USF1	chr15:76063472-76063623	HepG2	liver:	n/a	n/a
43	YY1	chr15:76063466-76063746	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000187812	TF binding region

Extended variants
information (count: 115 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559897459	chr15:76063123-76063124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528638206	chr15:76063149-76063150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373627288	chr15:76063170-76063171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189277097	chr15:76063209-76063210	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs565240766	chr15:76063228-76063229	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs532413192	chr15:76063241-76063242	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs573038661	chr15:76063247-76063248	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs377508899	chr15:76063289-76063290	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs2897210	chr15:76063334-76063335	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs561762582	chr15:76063341-76063342	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2897211	chr15:76063371-76063372	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs2897212	chr15:76063423-76063424	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs3991363	chr15:76063425-76063426	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs3991347	chr15:76063426-76063427	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs547483039	chr15:76063428-76063429	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs530716243	chr15:76063475-76063476	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs3991348	chr15:76063477-76063478	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs3991349	chr15:76063521-76063522	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs559449388	chr15:76063526-76063527	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs3861184	chr15:76063551-76063552	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11639271	chr15:76063564-76063565	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs548731765	chr15:76063591-76063592	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs182029437	chr15:76063611-76063612	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs2405721	chr15:76063637-76063638	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs34976975	chr15:76063643-76063644	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs140494798	chr15:76063668-76063669	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs552633285	chr15:76063689-76063690	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs372080505	chr15:76063690-76063691	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs534628185	chr15:76063705-76063706	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs150442291	chr15:76063764-76063765	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs574550459	chr15:76063774-76063775	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs535218827	chr15:76063825-76063826	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs557070362	chr15:76063826-76063827	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113276379	chr15:76063828-76063829	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs117414619	chr15:76063839-76063840	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs564271710	chr15:76063848-76063849	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs576805880	chr15:76063859-76063860	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs541061236	chr15:76063883-76063884	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs149623033	chr15:76063918-76063919	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs185681647	chr15:76063937-76063938	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs4322628	chr15:76063958-76063959	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs3845233	chr15:76064022-76064023	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs3845234	chr15:76064041-76064042	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531057124	chr15:76064049-76064050	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs546146056	chr15:76064067-76064068	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs3991350	chr15:76064084-76064085	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs3991351	chr15:76064085-76064086	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs3850092	chr15:76064098-76064099	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528808159	chr15:76064100-76064101	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs188871580	chr15:76064123-76064124	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76051400-76063200	Weak transcription	Right Atrium	heart
2	chr15:76061000-76067400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:76062000-76067200	Enhancers	Liver	Liver
4	chr15:76062200-76063200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr15:76062200-76063600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr15:76062400-76065400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr15:76062400-76065600	Enhancers	HepG2	liver
8	chr15:76062600-76063200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr15:76062600-76063800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:76062600-76064000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:76062600-76064400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr15:76062800-76063800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:76062800-76063800	Enhancers	Primary hematopoietic stem cells	blood
14	chr15:76062800-76068000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:76062800-76068400	Weak transcription	Pancreas	Pancrea
16	chr15:76063000-76063800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr15:76063000-76063800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr15:76063000-76063800	Enhancers	A549	lung
19	chr15:76063000-76064000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:76063000-76064400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr15:76063000-76064600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr15:76063200-76067800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:76063200-76068000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr15:76063600-76064000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:76063600-76068000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:76063800-76064200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:76063800-76067800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:76063800-76068000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr15:76063800-76068000	Weak transcription	A549	lung
30	chr15:76063800-76068400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:76064000-76068400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:76064000-76068600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:76064200-76068000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:76064400-76068000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr15:76064400-76068400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:76064600-76068200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr15:76065400-76068000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr15:76065600-76067800	Weak transcription	HepG2	liver

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