Variant report

Variant	nsv978434
Chromosome Location	chr17:45632564-45645901
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	chr17:45644646-45644894	Hela-S3	cervix:	n/a	chr17:45644788-45644801
2	CTCF	chr17:45639761-45639910	MCF-7	breast:	n/a	n/a
3	CTCF	chr17:45639760-45639940	K562	blood:	n/a	n/a
4	CTCF	chr17:45639640-45639790	HFF	foreskin:	n/a	n/a
5	CTCF	chr17:45639841-45639902	LNCaP	prostate:	n/a	n/a
6	CTCF	chr17:45639608-45639654	GM19240	blood:	n/a	n/a
7	CTCF	chr17:45639819-45639881	GM10248	blood:	n/a	n/a
8	CTCF	chr17:45639653-45639953	A549	lung:	n/a	n/a
9	CTCF	chr17:45639791-45639953	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr17:45639800-45639917	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr17:45639787-45639938	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr17:45639786-45639888	HepG2	liver:	n/a	n/a
13	CTCF	chr17:45639768-45639951	GM12878	blood:	n/a	n/a
14	CTCF	chr17:45639620-45639770	GM12869	blood:	n/a	n/a
15	CTCF	chr17:45639794-45639931	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr17:45639620-45639770	HepG2	liver:	n/a	n/a
17	CTCF	chr17:45639939-45639941	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr17:45639735-45639948	MCF-7	breast:	n/a	n/a
19	CTCF	chr17:45639821-45639905	GM13977	blood:	n/a	n/a
20	CTCF	chr17:45639620-45639770	HEK293	kidney:	n/a	n/a
21	CTCF	chr17:45639600-45639750	HAc	cerebellar:	n/a	n/a
22	CTCF	chr17:45639580-45639730	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr17:45639350-45639422	MCF-7	breast:	n/a	n/a
24	CTCF	chr17:45639761-45639816	ProgFib	skin:	n/a	n/a
25	CTCF	chr17:45633424-45633495	GM10248	blood:	n/a	n/a
26	CTCF	chr17:45639756-45639890	Gliobla	brain:	n/a	n/a
27	CTCF	chr17:45639466-45640016	A549	lung:	n/a	n/a
28	CTCF	chr17:45639752-45639953	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr17:45639691-45639984	K562	blood:	n/a	n/a
30	FOS	chr17:45644661-45644829	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr17:45644661-45644875	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
32	FOS	chr17:45644631-45644985	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
33	FOS	chr17:45644633-45644906	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
34	FOXA1	chr17:45634879-45635200	HepG2	liver:	n/a	chr17:45634892-45634904 chr17:45635023-45635035
35	GABPA	chr17:45644138-45644279	Hela-S3	cervix:	n/a	n/a
36	JUND	chr17:45634460-45634632	HepG2	liver:	n/a	n/a
37	MYC	chr17:45644792-45644893	MCF10A-Er-Src	breast:	n/a	n/a
38	NR2F2	chr17:45633412-45633724	K562	blood:	n/a	n/a
39	POLR2A	chr17:45639049-45639584	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr17:45639344-45639422	MCF-7	breast:	n/a	n/a
41	POLR2A	chr17:45643953-45644100	MCF-7	breast:	n/a	n/a
42	POLR2A	chr17:45639095-45639847	GM12878	blood:	n/a	n/a
43	POLR2A	chr17:45639333-45639415	MCF-7	breast:	n/a	n/a
44	POLR2A	chr17:45642991-45643120	ProgFib	skin:	n/a	n/a
45	POLR2A	chr17:45644840-45644933	MCF-7	breast:	n/a	n/a
46	POLR2A	chr17:45639537-45639715	GM12878	blood:	n/a	n/a
47	POLR2A	chr17:45639594-45639880	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr17:45643307-45643311	MCF-7	breast:	n/a	n/a
49	POLR2A	chr17:45643310-45643539	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr17:45643508-45643520	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
NPEPPS	TF binding region
ENSG00000206734	TF binding region

Extended variants
information (count: 503 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548680676	chr17:45632591-45632592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2611942	chr17:45632592-45632593	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569209147	chr17:45632630-45632631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139957447	chr17:45632639-45632640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370176528	chr17:45632713-45632714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72124660	chr17:45632714-45632715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540483934	chr17:45632743-45632744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551648821	chr17:45632770-45632771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146721174	chr17:45632791-45632792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139337966	chr17:45632868-45632869	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2661210	chr17:45632872-45632873	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs554202969	chr17:45632926-45632927	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs555884896	chr17:45632932-45632933	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs536675685	chr17:45632940-45632941	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs556266188	chr17:45632941-45632942	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs74951133	chr17:45632955-45632956	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
17	rs77221119	chr17:45632973-45632974	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2661208	chr17:45633000-45633001	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558738099	chr17:45633009-45633010	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs113374873	chr17:45633046-45633047	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs563312870	chr17:45633058-45633059	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200457417	chr17:45633061-45633062	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539977607	chr17:45633119-45633120	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs560222563	chr17:45633147-45633148	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs573639005	chr17:45633205-45633206	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs182215964	chr17:45633233-45633234	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs536987662	chr17:45633246-45633247	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs545942160	chr17:45633267-45633268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372508323	chr17:45633346-45633347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34894439	chr17:45633376-45633377	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113176137	chr17:45633423-45633424	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs368434887	chr17:45633437-45633438	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs8065099	chr17:45633485-45633486	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs531639700	chr17:45633503-45633504	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551659435	chr17:45633547-45633548	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs528155511	chr17:45633552-45633553	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs565089496	chr17:45633584-45633585	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs527451898	chr17:45633587-45633588	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs4092459	chr17:45633650-45633651	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs547250466	chr17:45633668-45633669	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs367764242	chr17:45633703-45633704	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs371489305	chr17:45633709-45633710	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs374274715	chr17:45633755-45633756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368182330	chr17:45633802-45633803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4102521	chr17:45633846-45633847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187754803	chr17:45633914-45633915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536347221	chr17:45633926-45633927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549768224	chr17:45633929-45633930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569676899	chr17:45634005-45634006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35806769	chr17:45634013-45634014	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:119)

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
Epithelial cancer	20478067	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

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	chr17:45610400-45633800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr17:45610400-45637600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:45610400-45637800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr17:45610400-45639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:45610400-45646800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr17:45610400-45647000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr17:45610400-45647600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:45610400-45647600	Weak transcription	Osteobl	bone
15	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
16	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr17:45610600-45637200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr17:45610600-45647000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr17:45610600-45647000	Weak transcription	Dnd41	blood
20	chr17:45610600-45662200	Weak transcription	HSMM	muscle
21	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:45610800-45669000	Weak transcription	NH-A	brain
24	chr17:45611000-45647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:45611200-45647600	Weak transcription	HSMMtube	muscle
26	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
27	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:45617000-45647000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:45617000-45647600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:45617600-45637200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:45617600-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:45618000-45649200	Weak transcription	Right Ventricle	heart
33	chr17:45618600-45637600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:45618600-45639000	Weak transcription	Brain Anterior Caudate	brain
35	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
36	chr17:45618800-45669200	Weak transcription	HUVEC	blood vessel
37	chr17:45619400-45667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr17:45619400-45668200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:45621800-45647000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:45622000-45637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:45622000-45647600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:45622400-45653000	Weak transcription	Colonic Mucosa	Colon
43	chr17:45622600-45637200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr17:45622800-45669000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
46	chr17:45624200-45647000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr17:45625000-45637200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr17:45625000-45637200	Weak transcription	HepG2	liver
49	chr17:45625000-45641400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:45625000-45647000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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