Variant report

Variant	esv3401092
Chromosome Location	chr17:45662853-45667951
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	chr17:45665734-45665783	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr17:45665566-45665892	A549	lung:	n/a	n/a
3	CEBPB	chr17:45665580-45665831	IMR90	lung:	n/a	n/a
4	CEBPB	chr17:45665732-45665756	K562	blood:	n/a	n/a
5	CEBPB	chr17:45665734-45665763	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr17:45665577-45665788	HepG2	liver:	n/a	n/a
7	FOSL2	chr17:45665110-45665491	HepG2	liver:	n/a	chr17:45665303-45665315
8	FOXA1	chr17:45662911-45663083	T-47D	breast:	n/a	n/a
9	FOXA1	chr17:45665043-45665586	HepG2	liver:	n/a	chr17:45665190-45665202 chr17:45665317-45665329
10	POLR2A	chr17:45667876-45667909	MCF-7	breast:	n/a	n/a
11	POLR2A	chr17:45667797-45667812	MCF-7	breast:	n/a	n/a
12	POLR2A	chr17:45667497-45667521	A549	lung:	n/a	n/a
13	POLR2A	chr17:45667418-45667558	MCF-7	breast:	n/a	n/a
14	POLR2A	chr17:45666560-45666699	MCF-7	breast:	n/a	n/a
15	POLR2A	chr17:45666317-45666698	MCF-7	breast:	n/a	n/a
16	POLR2A	chr17:45667912-45667935	MCF-7	breast:	n/a	n/a
17	POLR2A	chr17:45666590-45666714	MCF-7	breast:	n/a	n/a
18	POLR2A	chr17:45666624-45666726	A549	lung:	n/a	n/a
19	POLR2A	chr17:45663443-45663517	MCF-7	breast:	n/a	n/a
20	POLR2A	chr17:45666618-45666622	A549	lung:	n/a	n/a
21	POLR2A	chr17:45664227-45664379	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
NPEPPS	TF binding region

Extended variants
information (count: 180 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558665644	chr17:45662854-45662855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4060751	chr17:45662855-45662856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370952703	chr17:45662923-45662924	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs377728785	chr17:45662926-45662927	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs149179597	chr17:45662944-45662945	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs374392914	chr17:45663009-45663010	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs3968300	chr17:45663016-45663017	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541030331	chr17:45663053-45663054	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs3968301	chr17:45663060-45663061	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs561302088	chr17:45663071-45663072	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs4060753	chr17:45663095-45663096	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530348688	chr17:45663144-45663145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544124476	chr17:45663172-45663173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56035930	chr17:45663196-45663197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546117088	chr17:45663205-45663206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2611874	chr17:45663229-45663230	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9902654	chr17:45663380-45663381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532796722	chr17:45663396-45663397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552803347	chr17:45663467-45663468	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs58691358	chr17:45663478-45663479	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs571371035	chr17:45663554-45663555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377442065	chr17:45663680-45663681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372546318	chr17:45663681-45663682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527344586	chr17:45663692-45663693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373623913	chr17:45663700-45663701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183403065	chr17:45663702-45663703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377056223	chr17:45663780-45663781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112495306	chr17:45663896-45663897	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144555022	chr17:45663899-45663900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112743441	chr17:45663912-45663913	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs898403	chr17:45663926-45663927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556453942	chr17:45663939-45663940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559258152	chr17:45663946-45663947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569604831	chr17:45663979-45663980	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538491751	chr17:45663980-45663981	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558283266	chr17:45663987-45663988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187566035	chr17:45664013-45664014	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2611870	chr17:45664087-45664088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541098052	chr17:45664119-45664120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554745039	chr17:45664120-45664121	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574811576	chr17:45664125-45664126	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191209045	chr17:45664154-45664155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529865467	chr17:45664183-45664184	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564059031	chr17:45664184-45664185	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112552815	chr17:45664192-45664193	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112887074	chr17:45664212-45664213	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112167724	chr17:45664215-45664216	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532809131	chr17:45664219-45664220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111849411	chr17:45664281-45664282	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs546431669	chr17:45664302-45664303	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	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:216 , 50 per page) page: 1 2 3 4 5

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	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr17:45610800-45669000	Weak transcription	NH-A	brain
9	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
10	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
12	chr17:45618800-45669200	Weak transcription	HUVEC	blood vessel
13	chr17:45619400-45667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr17:45619400-45668200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr17:45622800-45669000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
17	chr17:45625000-45668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr17:45625200-45667200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr17:45625200-45670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr17:45629600-45667400	Weak transcription	Left Ventricle	heart
21	chr17:45629800-45673400	Weak transcription	K562	blood
22	chr17:45635400-45670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr17:45637400-45667200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr17:45637400-45669000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr17:45637400-45670600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:45637800-45678800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr17:45638000-45667400	Weak transcription	Primary T cells from cord blood	blood
28	chr17:45638000-45667400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr17:45638200-45667400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr17:45638800-45669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr17:45639600-45675000	Weak transcription	Brain Angular Gyrus	brain
32	chr17:45639800-45676800	Weak transcription	Brain Anterior Caudate	brain
33	chr17:45641000-45678000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr17:45641400-45675000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr17:45644200-45675200	Weak transcription	GM12878-XiMat	blood
36	chr17:45644400-45683800	Weak transcription	Spleen	Spleen
37	chr17:45644600-45673400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:45644600-45673600	Weak transcription	Hela-S3	cervix
39	chr17:45645000-45673800	Weak transcription	HMEC	breast
40	chr17:45645600-45678200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr17:45647800-45663000	Weak transcription	Thymus	Thymus
42	chr17:45647800-45663800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr17:45647800-45667400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:45647800-45667400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr17:45647800-45669200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr17:45647800-45677000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr17:45647800-45684800	Weak transcription	Gastric	stomach
48	chr17:45648000-45663800	Weak transcription	HSMMtube	muscle
49	chr17:45648000-45665400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:45648000-45666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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