Variant report

Variant	nsv962335
Chromosome Location	chr17:45645901-45669882
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	CEBPB	chr17:45665577-45665788	HepG2	liver:	n/a	n/a
2	CEBPB	chr17:45665732-45665756	K562	blood:	n/a	n/a
3	CEBPB	chr17:45665734-45665783	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr17:45665734-45665763	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr17:45665580-45665831	IMR90	lung:	n/a	n/a
6	CEBPB	chr17:45665566-45665892	A549	lung:	n/a	n/a
7	CTCF	chr17:45655360-45655510	K562	blood:	n/a	n/a
8	CTCF	chr17:45669308-45669361	MCF-7	breast:	n/a	n/a
9	CTCF	chr17:45655314-45655358	ProgFib	skin:	n/a	n/a
10	FOSL2	chr17:45665110-45665491	HepG2	liver:	n/a	chr17:45665303-45665315
11	FOXA1	chr17:45656460-45656842	HepG2	liver:	n/a	n/a
12	FOXA1	chr17:45662911-45663083	T-47D	breast:	n/a	n/a
13	FOXA1	chr17:45659827-45660279	HepG2	liver:	n/a	n/a
14	FOXA1	chr17:45665043-45665586	HepG2	liver:	n/a	chr17:45665190-45665202 chr17:45665317-45665329
15	GATA2	chr17:45646248-45646557	K562	blood:	n/a	chr17:45646531-45646541 chr17:45646499-45646506
16	GTF2F1	chr17:45646465-45646488	K562	blood:	n/a	n/a
17	JUND	chr17:45652113-45652290	HepG2	liver:	n/a	n/a
18	NFIC	chr17:45646280-45646624	ECC-1	luminal epithelium:	n/a	chr17:45646429-45646445 chr17:45646427-45646444 chr17:45646428-45646445 chr17:45646427-45646443
19	NFIC	chr17:45646266-45646508	SK-N-SH	brain:	n/a	chr17:45646429-45646445 chr17:45646427-45646444 chr17:45646428-45646445 chr17:45646427-45646443
20	PAX5	chr17:45650118-45650351	GM12878	blood:	n/a	n/a
21	PAX5	chr17:45651908-45652175	GM12878	blood:	n/a	n/a
22	PAX5	chr17:45650037-45650232	GM12878	blood:	n/a	n/a
23	POLR2A	chr17:45666317-45666698	MCF-7	breast:	n/a	n/a
24	POLR2A	chr17:45651018-45651083	ProgFib	skin:	n/a	n/a
25	POLR2A	chr17:45656297-45656340	MCF-7	breast:	n/a	n/a
26	POLR2A	chr17:45655639-45655722	MCF-7	breast:	n/a	n/a
27	POLR2A	chr17:45646287-45646553	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr17:45666590-45666714	MCF-7	breast:	n/a	n/a
29	POLR2A	chr17:45654577-45654611	MCF-7	breast:	n/a	n/a
30	POLR2A	chr17:45655967-45655973	MCF-7	breast:	n/a	n/a
31	POLR2A	chr17:45655739-45655809	MCF-7	breast:	n/a	n/a
32	POLR2A	chr17:45646213-45646639	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr17:45656189-45656211	MCF-7	breast:	n/a	n/a
34	POLR2A	chr17:45646231-45646595	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr17:45649576-45649614	MCF-7	breast:	n/a	n/a
36	POLR2A	chr17:45655618-45655628	MCF-7	breast:	n/a	n/a
37	POLR2A	chr17:45647390-45647391	MCF-7	breast:	n/a	n/a
38	POLR2A	chr17:45658872-45658899	MCF-7	breast:	n/a	n/a
39	POLR2A	chr17:45646128-45646539	GM12878	blood:	n/a	n/a
40	POLR2A	chr17:45656343-45656362	MCF-7	breast:	n/a	n/a
41	POLR2A	chr17:45659459-45659585	ProgFib	skin:	n/a	n/a
42	POLR2A	chr17:45656185-45656389	ProgFib	skin:	n/a	n/a
43	POLR2A	chr17:45655047-45655173	MCF-7	breast:	n/a	n/a
44	POLR2A	chr17:45657958-45658141	MCF-7	breast:	n/a	n/a
45	POLR2A	chr17:45667418-45667558	MCF-7	breast:	n/a	n/a
46	POLR2A	chr17:45658148-45658200	MCF-7	breast:	n/a	n/a
47	POLR2A	chr17:45645840-45645937	MCF-7	breast:	n/a	n/a
48	POLR2A	chr17:45649469-45649524	MCF-7	breast:	n/a	n/a
49	POLR2A	chr17:45646235-45646593	GM12878	blood:	n/a	n/a
50	POLR2A	chr17:45656558-45656581	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
NPEPPS	TF binding region

Extended variants
information (count: 852 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:852 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531154680	chr17:45645934-45645935	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs368291918	chr17:45645947-45645948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371266029	chr17:45645948-45645949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556356079	chr17:45645949-45645950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201061182	chr17:45645954-45645955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201925078	chr17:45645955-45645956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200540542	chr17:45645956-45645957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201471295	chr17:45645957-45645958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551179184	chr17:45646042-45646043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183714108	chr17:45646051-45646052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538683640	chr17:45646064-45646065	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs2261223	chr17:45646084-45646085	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs2261224	chr17:45646107-45646108	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs551897468	chr17:45646114-45646115	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs565638316	chr17:45646117-45646118	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs371419954	chr17:45646125-45646126	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs2261254	chr17:45646162-45646163	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs534625606	chr17:45646183-45646184	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs554472142	chr17:45646185-45646186	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs567999114	chr17:45646209-45646210	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs536887341	chr17:45646253-45646254	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs557115032	chr17:45646257-45646258	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs577268128	chr17:45646313-45646314	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs546238343	chr17:45646341-45646342	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs374722460	chr17:45646360-45646361	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs573243004	chr17:45646409-45646410	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs111700403	chr17:45646425-45646426	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs542219624	chr17:45646447-45646448	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs562399922	chr17:45646499-45646500	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs531220579	chr17:45646528-45646529	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs544824236	chr17:45646529-45646530	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs564663359	chr17:45646552-45646553	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112883814	chr17:45646553-45646554	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs552225216	chr17:45646560-45646561	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs565617682	chr17:45646577-45646578	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs550289269	chr17:45646595-45646596	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs149914264	chr17:45646601-45646602	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs112179139	chr17:45646608-45646609	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs113280543	chr17:45646616-45646617	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs188427303	chr17:45646652-45646653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386797440	chr17:45646686-45646687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112497139	chr17:45646758-45646759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111251681	chr17:45646764-45646765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372808255	chr17:45646790-45646791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536898445	chr17:45646845-45646846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556886188	chr17:45646878-45646879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113359385	chr17:45646946-45646947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565455858	chr17:45646950-45646951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111959770	chr17:45646952-45646953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570591583	chr17:45646971-45646972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45610000-45670600	Weak transcription	Lung	lung
2	chr17:45610000-45670600	Weak transcription	Pancreas	Pancrea
3	chr17:45610000-45676800	Weak transcription	Ovary	ovary
4	chr17:45610200-45674200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr17:45610400-45646800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr17:45610400-45647000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr17:45610400-45647600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:45610400-45647600	Weak transcription	Osteobl	bone
9	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
10	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr17:45610600-45647000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:45610600-45647000	Weak transcription	Dnd41	blood
13	chr17:45610600-45662200	Weak transcription	HSMM	muscle
14	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:45610800-45669000	Weak transcription	NH-A	brain
17	chr17:45611000-45647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:45611200-45647600	Weak transcription	HSMMtube	muscle
19	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
20	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr17:45617000-45647000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:45617000-45647600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:45617600-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:45618000-45649200	Weak transcription	Right Ventricle	heart
25	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
26	chr17:45618800-45669200	Weak transcription	HUVEC	blood vessel
27	chr17:45619400-45667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr17:45619400-45668200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr17:45621800-45647000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr17:45622000-45647600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:45622400-45653000	Weak transcription	Colonic Mucosa	Colon
32	chr17:45622800-45669000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
34	chr17:45624200-45647000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr17:45625000-45647000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr17:45625000-45647000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:45625000-45647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr17:45625000-45668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr17:45625200-45647000	Weak transcription	Fetal Muscle Leg	muscle
40	chr17:45625200-45647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:45625200-45667200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr17:45625200-45670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr17:45625800-45647000	Weak transcription	Placenta	Placenta
44	chr17:45627000-45646800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr17:45627000-45647000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:45627000-45649200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr17:45629600-45667400	Weak transcription	Left Ventricle	heart
48	chr17:45629800-45673400	Weak transcription	K562	blood
49	chr17:45630600-45647000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr17:45631600-45647000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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