Variant report

Variant	esv3406957
Chromosome Location	chr17:45643853-45647951
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	FOS	chr17:45644631-45644985	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
3	FOS	chr17:45644661-45644875	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
4	FOS	chr17:45644661-45644829	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr17:45644633-45644906	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
6	GABPA	chr17:45644138-45644279	Hela-S3	cervix:	n/a	n/a
7	GATA2	chr17:45646248-45646557	K562	blood:	n/a	chr17:45646531-45646541 chr17:45646499-45646506
8	GTF2F1	chr17:45646465-45646488	K562	blood:	n/a	n/a
9	MYC	chr17:45644792-45644893	MCF10A-Er-Src	breast:	n/a	n/a
10	NFIC	chr17:45646266-45646508	SK-N-SH	brain:	n/a	chr17:45646429-45646445 chr17:45646427-45646444 chr17:45646428-45646445 chr17:45646427-45646443
11	NFIC	chr17:45646280-45646624	ECC-1	luminal epithelium:	n/a	chr17:45646429-45646445 chr17:45646427-45646444 chr17:45646428-45646445 chr17:45646427-45646443
12	POLR2A	chr17:45646213-45646639	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr17:45647209-45647377	MCF-7	breast:	n/a	n/a
14	POLR2A	chr17:45643953-45644100	MCF-7	breast:	n/a	n/a
15	POLR2A	chr17:45647757-45647779	MCF-7	breast:	n/a	n/a
16	POLR2A	chr17:45646221-45646626	U87	brain:	n/a	n/a
17	POLR2A	chr17:45647488-45647564	MCF-7	breast:	n/a	n/a
18	POLR2A	chr17:45646128-45646539	GM12878	blood:	n/a	n/a
19	POLR2A	chr17:45647174-45647253	MCF-7	breast:	n/a	n/a
20	POLR2A	chr17:45646231-45646595	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr17:45646800-45646841	MCF-7	breast:	n/a	n/a
22	POLR2A	chr17:45646304-45646545	HepG2	liver:	n/a	n/a
23	POLR2A	chr17:45646235-45646593	GM12878	blood:	n/a	n/a
24	POLR2A	chr17:45646287-45646553	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr17:45646053-45646287	HepG2	liver:	n/a	n/a
26	POLR2A	chr17:45643919-45643927	MCF-7	breast:	n/a	n/a
27	POLR2A	chr17:45647390-45647391	MCF-7	breast:	n/a	n/a
28	POLR2A	chr17:45646845-45646879	MCF-7	breast:	n/a	n/a
29	POLR2A	chr17:45647077-45647169	MCF-7	breast:	n/a	n/a
30	POLR2A	chr17:45647500-45647594	MCF-7	breast:	n/a	n/a
31	POLR2A	chr17:45645840-45645937	MCF-7	breast:	n/a	n/a
32	POLR2A	chr17:45647795-45647800	MCF-7	breast:	n/a	n/a
33	POLR2A	chr17:45646221-45646575	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr17:45646282-45646507	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr17:45646372-45646426	ProgFib	skin:	n/a	n/a
36	POLR2A	chr17:45644840-45644933	MCF-7	breast:	n/a	n/a
37	RXRA	chr17:45646166-45646522	HepG2	liver:	n/a	n/a
38	RXRA	chr17:45646313-45646527	HepG2	liver:	n/a	n/a
39	SP1	chr17:45646235-45646607	HepG2	liver:	n/a	n/a
40	STAT3	chr17:45644695-45644864	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr17:45644671-45644864	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr17:45644632-45644906	MCF10A-Er-Src	breast:	n/a	chr17:45644876-45644887
43	ZBTB33	chr17:45644956-45645245	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
NPEPPS	TF binding region

Extended variants
information (count: 169 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs576070532	chr17:45643869-45643870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201456111	chr17:45643872-45643873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545307665	chr17:45643876-45643877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558605195	chr17:45643928-45643929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185288258	chr17:45643935-45643936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138920353	chr17:45643952-45643953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201579412	chr17:45644004-45644005	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374840087	chr17:45644008-45644009	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs143340293	chr17:45644022-45644023	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs112112088	chr17:45644028-45644029	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs560705816	chr17:45644029-45644030	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs111412992	chr17:45644158-45644159	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs113781055	chr17:45644168-45644169	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs574605181	chr17:45644199-45644200	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs113557172	chr17:45644312-45644313	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113393171	chr17:45644318-45644319	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113187837	chr17:45644337-45644338	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370648070	chr17:45644381-45644382	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74386080	chr17:45644402-45644403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533808859	chr17:45644407-45644408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563364617	chr17:45644445-45644446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532430676	chr17:45644447-45644448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146480081	chr17:45644458-45644459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2935174	chr17:45644486-45644487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187809859	chr17:45644535-45644536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2611899	chr17:45644544-45644545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2611898	chr17:45644552-45644553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528778958	chr17:45644588-45644589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548803235	chr17:45644621-45644622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2261190	chr17:45644715-45644716	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs191861638	chr17:45644729-45644730	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs56607730	chr17:45644806-45644807	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs2644370	chr17:45644846-45644847	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs117278327	chr17:45644891-45644892	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2610355	chr17:45644892-45644893	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs373721578	chr17:45644983-45644984	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs538288298	chr17:45645060-45645061	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs200087883	chr17:45645070-45645071	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs2610356	chr17:45645083-45645084	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs555979236	chr17:45645092-45645093	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs577398576	chr17:45645126-45645127	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs572256448	chr17:45645178-45645179	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs545001471	chr17:45645183-45645184	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs560418271	chr17:45645372-45645373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2611897	chr17:45645375-45645376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534567613	chr17:45645380-45645381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527557132	chr17:45645442-45645443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543018095	chr17:45645462-45645463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2611896	chr17:45645482-45645483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2611895	chr17:45645485-45645486	Weak 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:179 , 50 per page) page: 1 2 3 4

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	chr17:45625200-45644200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:45625200-45647000	Weak transcription	Fetal Muscle Leg	muscle
41	chr17:45625200-45647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:45625200-45667200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr17:45625200-45670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr17:45625800-45647000	Weak transcription	Placenta	Placenta
45	chr17:45627000-45646800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr17:45627000-45647000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:45627000-45649200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:45629600-45667400	Weak transcription	Left Ventricle	heart
49	chr17:45629800-45673400	Weak transcription	K562	blood
50	chr17:45630400-45644200	Weak transcription	Muscle Satellite Cultured Cells	--

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