Variant report

Variant	nsv828034
Chromosome Location	chr17:45637321-45667518
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	chr17:45665732-45665756	K562	blood:	n/a	n/a
2	CEBPB	chr17:45665577-45665788	HepG2	liver:	n/a	n/a
3	CEBPB	chr17:45665566-45665892	A549	lung:	n/a	n/a
4	CEBPB	chr17:45665580-45665831	IMR90	lung:	n/a	n/a
5	CEBPB	chr17:45644646-45644894	Hela-S3	cervix:	n/a	chr17:45644788-45644801
6	CEBPB	chr17:45665734-45665763	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr17:45665734-45665783	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr17:45639752-45639953	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr17:45639735-45639948	MCF-7	breast:	n/a	n/a
10	CTCF	chr17:45639787-45639938	Pancreas_OC	pancreas:	n/a	n/a
11	CTCF	chr17:45655360-45655510	K562	blood:	n/a	n/a
12	CTCF	chr17:45639791-45639953	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr17:45655314-45655358	ProgFib	skin:	n/a	n/a
14	CTCF	chr17:45639640-45639790	HFF	foreskin:	n/a	n/a
15	CTCF	chr17:45639620-45639770	GM12869	blood:	n/a	n/a
16	CTCF	chr17:45639800-45639917	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr17:45639466-45640016	A549	lung:	n/a	n/a
18	CTCF	chr17:45639608-45639654	GM19240	blood:	n/a	n/a
19	CTCF	chr17:45639786-45639888	HepG2	liver:	n/a	n/a
20	CTCF	chr17:45639620-45639770	HEK293	kidney:	n/a	n/a
21	CTCF	chr17:45639819-45639881	GM10248	blood:	n/a	n/a
22	CTCF	chr17:45639756-45639890	Gliobla	brain:	n/a	n/a
23	CTCF	chr17:45639620-45639770	HepG2	liver:	n/a	n/a
24	CTCF	chr17:45639821-45639905	GM13977	blood:	n/a	n/a
25	CTCF	chr17:45639794-45639931	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr17:45639761-45639910	MCF-7	breast:	n/a	n/a
27	CTCF	chr17:45639580-45639730	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr17:45639841-45639902	LNCaP	prostate:	n/a	n/a
29	CTCF	chr17:45639653-45639953	A549	lung:	n/a	n/a
30	CTCF	chr17:45639761-45639816	ProgFib	skin:	n/a	n/a
31	CTCF	chr17:45639600-45639750	HAc	cerebellar:	n/a	n/a
32	CTCF	chr17:45639350-45639422	MCF-7	breast:	n/a	n/a
33	CTCF	chr17:45639768-45639951	GM12878	blood:	n/a	n/a
34	CTCF	chr17:45639939-45639941	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chr17:45639760-45639940	K562	blood:	n/a	n/a
36	CTCF	chr17:45639691-45639984	K562	blood:	n/a	n/a
37	FOS	chr17:45644633-45644906	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
38	FOS	chr17:45644631-45644985	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
39	FOS	chr17:45644661-45644875	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
40	FOS	chr17:45644661-45644829	MCF10A-Er-Src	breast:	n/a	n/a
41	FOSL2	chr17:45665110-45665491	HepG2	liver:	n/a	chr17:45665303-45665315
42	FOXA1	chr17:45662911-45663083	T-47D	breast:	n/a	n/a
43	FOXA1	chr17:45659827-45660279	HepG2	liver:	n/a	n/a
44	FOXA1	chr17:45665043-45665586	HepG2	liver:	n/a	chr17:45665190-45665202 chr17:45665317-45665329
45	FOXA1	chr17:45656460-45656842	HepG2	liver:	n/a	n/a
46	GABPA	chr17:45644138-45644279	Hela-S3	cervix:	n/a	n/a
47	GATA2	chr17:45646248-45646557	K562	blood:	n/a	chr17:45646531-45646541 chr17:45646499-45646506
48	GTF2F1	chr17:45646465-45646488	K562	blood:	n/a	n/a
49	JUND	chr17:45652113-45652290	HepG2	liver:	n/a	n/a
50	MYC	chr17:45644792-45644893	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
NPEPPS	TF binding region

Extended variants
information (count: 1074 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:1074 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536963853	chr17:45637336-45637337	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111966940	chr17:45637339-45637340	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556807268	chr17:45637349-45637350	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113886138	chr17:45637351-45637352	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150436242	chr17:45637367-45637368	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539287373	chr17:45637369-45637370	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553120861	chr17:45637399-45637400	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116210980	chr17:45637406-45637407	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113951995	chr17:45637412-45637413	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542259365	chr17:45637431-45637432	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3907146	chr17:45637479-45637480	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562083069	chr17:45637482-45637483	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113679380	chr17:45637557-45637558	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111758519	chr17:45637576-45637577	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529072309	chr17:45637583-45637584	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79679153	chr17:45637593-45637594	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79443579	chr17:45637594-45637595	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113861124	chr17:45637626-45637627	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4060790	chr17:45637638-45637639	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3865308	chr17:45637681-45637682	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575683951	chr17:45637686-45637687	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180671506	chr17:45637697-45637698	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572061236	chr17:45637710-45637711	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550493360	chr17:45637726-45637727	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3865309	chr17:45637737-45637738	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4060791	chr17:45637747-45637748	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564807492	chr17:45637752-45637753	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367549140	chr17:45637756-45637757	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542642030	chr17:45637773-45637774	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546926660	chr17:45637781-45637782	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4060774	chr17:45637833-45637834	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117600348	chr17:45637841-45637842	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112727971	chr17:45637847-45637848	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528184338	chr17:45637880-45637881	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111573279	chr17:45637902-45637903	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2663809	chr17:45637922-45637923	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548233121	chr17:45637928-45637929	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144445220	chr17:45637963-45637964	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112306207	chr17:45637964-45637965	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183798067	chr17:45637985-45637986	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550143801	chr17:45638003-45638004	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551362572	chr17:45638027-45638028	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570451749	chr17:45638031-45638032	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143918875	chr17:45638073-45638074	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2261433	chr17:45638083-45638084	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552892916	chr17:45638090-45638091	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112673980	chr17:45638119-45638120	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377540077	chr17:45638185-45638186	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2260020	chr17:45638197-45638198	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566619073	chr17:45638220-45638221	Weak transcription Enhancers	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:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45610000-45638600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr17:45610000-45639000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr17:45610000-45670600	Weak transcription	Lung	lung
4	chr17:45610000-45670600	Weak transcription	Pancreas	Pancrea
5	chr17:45610000-45676800	Weak transcription	Ovary	ovary
6	chr17:45610200-45674200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr17:45610400-45637600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr17:45610400-45637800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr17:45610400-45639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:45610400-45646800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr17:45610400-45647000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:45610400-45647600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr17:45610400-45647600	Weak transcription	Osteobl	bone
14	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
15	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:45610600-45647000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr17:45610600-45647000	Weak transcription	Dnd41	blood
18	chr17:45610600-45662200	Weak transcription	HSMM	muscle
19	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:45610800-45669000	Weak transcription	NH-A	brain
22	chr17:45611000-45647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:45611200-45647600	Weak transcription	HSMMtube	muscle
24	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
25	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:45617000-45647000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:45617000-45647600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:45617600-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:45618000-45649200	Weak transcription	Right Ventricle	heart
30	chr17:45618600-45637600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr17:45618600-45639000	Weak transcription	Brain Anterior Caudate	brain
32	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
33	chr17:45618800-45669200	Weak transcription	HUVEC	blood vessel
34	chr17:45619400-45667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr17:45619400-45668200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr17:45621800-45647000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr17:45622000-45637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr17:45622000-45647600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr17:45622400-45653000	Weak transcription	Colonic Mucosa	Colon
40	chr17:45622800-45669000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
42	chr17:45624200-45647000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr17:45625000-45641400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr17:45625000-45647000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr17:45625000-45647000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr17:45625000-45647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr17:45625000-45668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr17:45625200-45644200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr17:45625200-45647000	Weak transcription	Fetal Muscle Leg	muscle
50	chr17:45625200-45647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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