Variant report

Variant	esv1851394
Chromosome Location	chr17:45634373-45668909
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	chr17:45665580-45665831	IMR90	lung:	n/a	n/a
2	CEBPB	chr17:45665566-45665892	A549	lung:	n/a	n/a
3	CEBPB	chr17:45665734-45665783	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr17:45644646-45644894	Hela-S3	cervix:	n/a	chr17:45644788-45644801
5	CEBPB	chr17:45665734-45665763	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr17:45665732-45665756	K562	blood:	n/a	n/a
7	CEBPB	chr17:45665577-45665788	HepG2	liver:	n/a	n/a
8	CTCF	chr17:45655360-45655510	K562	blood:	n/a	n/a
9	CTCF	chr17:45639653-45639953	A549	lung:	n/a	n/a
10	CTCF	chr17:45639841-45639902	LNCaP	prostate:	n/a	n/a
11	CTCF	chr17:45639620-45639770	HepG2	liver:	n/a	n/a
12	CTCF	chr17:45639580-45639730	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr17:45639620-45639770	HEK293	kidney:	n/a	n/a
14	CTCF	chr17:45639760-45639940	K562	blood:	n/a	n/a
15	CTCF	chr17:45639600-45639750	HAc	cerebellar:	n/a	n/a
16	CTCF	chr17:45655314-45655358	ProgFib	skin:	n/a	n/a
17	CTCF	chr17:45639756-45639890	Gliobla	brain:	n/a	n/a
18	CTCF	chr17:45639640-45639790	HFF	foreskin:	n/a	n/a
19	CTCF	chr17:45639939-45639941	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chr17:45639608-45639654	GM19240	blood:	n/a	n/a
21	CTCF	chr17:45639821-45639905	GM13977	blood:	n/a	n/a
22	CTCF	chr17:45639752-45639953	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr17:45639819-45639881	GM10248	blood:	n/a	n/a
24	CTCF	chr17:45639800-45639917	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr17:45639787-45639938	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr17:45639735-45639948	MCF-7	breast:	n/a	n/a
27	CTCF	chr17:45639761-45639910	MCF-7	breast:	n/a	n/a
28	CTCF	chr17:45639761-45639816	ProgFib	skin:	n/a	n/a
29	CTCF	chr17:45639620-45639770	GM12869	blood:	n/a	n/a
30	CTCF	chr17:45639350-45639422	MCF-7	breast:	n/a	n/a
31	CTCF	chr17:45639768-45639951	GM12878	blood:	n/a	n/a
32	CTCF	chr17:45639466-45640016	A549	lung:	n/a	n/a
33	CTCF	chr17:45639691-45639984	K562	blood:	n/a	n/a
34	CTCF	chr17:45639786-45639888	HepG2	liver:	n/a	n/a
35	CTCF	chr17:45639791-45639953	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr17:45639794-45639931	HUVEC	blood vessel:	n/a	n/a
37	FOS	chr17:45644631-45644985	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
38	FOS	chr17:45644661-45644829	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr17:45644633-45644906	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
40	FOS	chr17:45644661-45644875	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
41	FOSL2	chr17:45665110-45665491	HepG2	liver:	n/a	chr17:45665303-45665315
42	FOXA1	chr17:45634879-45635200	HepG2	liver:	n/a	chr17:45634892-45634904 chr17:45635023-45635035
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	FOXA1	chr17:45662911-45663083	T-47D	breast:	n/a	n/a
47	GABPA	chr17:45644138-45644279	Hela-S3	cervix:	n/a	n/a
48	GATA2	chr17:45646248-45646557	K562	blood:	n/a	chr17:45646531-45646541 chr17:45646499-45646506
49	GTF2F1	chr17:45646465-45646488	K562	blood:	n/a	n/a
50	JUND	chr17:45652113-45652290	HepG2	liver:	n/a	n/a

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

Extended variants
information (count: 1244 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:1244 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112577536	chr17:45634467-45634468	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111500007	chr17:45634479-45634480	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113466443	chr17:45634486-45634487	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs147765104	chr17:45634487-45634488	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs11650556	chr17:45634490-45634491	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs550452423	chr17:45634505-45634506	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs11650917	chr17:45634575-45634576	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs549831131	chr17:45634673-45634674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569738538	chr17:45634683-45634684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568947538	chr17:45634690-45634691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552138964	chr17:45634699-45634700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566404059	chr17:45634719-45634720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539428099	chr17:45634733-45634734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192563517	chr17:45634758-45634759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555148234	chr17:45634808-45634809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2611940	chr17:45634846-45634847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568520004	chr17:45634874-45634875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535078480	chr17:45634879-45634880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536368386	chr17:45634888-45634889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111601997	chr17:45634937-45634938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2611939	chr17:45634952-45634953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184238417	chr17:45634966-45634967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369356457	chr17:45635005-45635006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551325846	chr17:45635124-45635125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377284985	chr17:45635130-45635131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112407486	chr17:45635153-45635154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576183025	chr17:45635199-45635200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9989466	chr17:45635239-45635240	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs74572039	chr17:45635302-45635303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558714475	chr17:45635303-45635304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558575997	chr17:45635305-45635306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76313942	chr17:45635316-45635317	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537618034	chr17:45635325-45635326	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534250840	chr17:45635357-45635358	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146305596	chr17:45635381-45635382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540931536	chr17:45635385-45635386	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138063266	chr17:45635386-45635387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529824250	chr17:45635412-45635413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574167557	chr17:45635425-45635426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563477059	chr17:45635442-45635443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111714571	chr17:45635452-45635453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144299583	chr17:45635535-45635536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556873494	chr17:45635562-45635563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552200444	chr17:45635573-45635574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369308894	chr17:45635574-45635575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111437819	chr17:45635579-45635580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528791371	chr17:45635598-45635599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113732258	chr17:45635601-45635602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372708925	chr17:45635620-45635621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376249616	chr17:45635681-45635682	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:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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

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