Variant report

Variant	esv3495089
Chromosome Location	chr17:45647003-45656601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:45655360-45655510	K562	blood:	n/a	n/a
2	CTCF	chr17:45655314-45655358	ProgFib	skin:	n/a	n/a
3	FOXA1	chr17:45656460-45656842	HepG2	liver:	n/a	n/a
4	JUND	chr17:45652113-45652290	HepG2	liver:	n/a	n/a
5	PAX5	chr17:45650118-45650351	GM12878	blood:	n/a	n/a
6	PAX5	chr17:45650037-45650232	GM12878	blood:	n/a	n/a
7	PAX5	chr17:45651908-45652175	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:45651009-45651069	MCF-7	breast:	n/a	n/a
9	POLR2A	chr17:45647795-45647800	MCF-7	breast:	n/a	n/a
10	POLR2A	chr17:45649533-45649568	MCF-7	breast:	n/a	n/a
11	POLR2A	chr17:45656227-45656258	MCF-7	breast:	n/a	n/a
12	POLR2A	chr17:45656519-45656536	MCF-7	breast:	n/a	n/a
13	POLR2A	chr17:45652095-45652292	ProgFib	skin:	n/a	n/a
14	POLR2A	chr17:45652106-45652110	A549	lung:	n/a	n/a
15	POLR2A	chr17:45649469-45649524	MCF-7	breast:	n/a	n/a
16	POLR2A	chr17:45655991-45656181	MCF-7	breast:	n/a	n/a
17	POLR2A	chr17:45655325-45655388	A549	lung:	n/a	n/a
18	POLR2A	chr17:45647209-45647377	MCF-7	breast:	n/a	n/a
19	POLR2A	chr17:45656500-45656518	MCF-7	breast:	n/a	n/a
20	POLR2A	chr17:45655639-45655722	MCF-7	breast:	n/a	n/a
21	POLR2A	chr17:45647174-45647253	MCF-7	breast:	n/a	n/a
22	POLR2A	chr17:45655967-45655973	MCF-7	breast:	n/a	n/a
23	POLR2A	chr17:45654659-45654702	MCF-7	breast:	n/a	n/a
24	POLR2A	chr17:45656558-45656581	MCF-7	breast:	n/a	n/a
25	POLR2A	chr17:45647757-45647779	MCF-7	breast:	n/a	n/a
26	POLR2A	chr17:45649373-45649452	MCF-7	breast:	n/a	n/a
27	POLR2A	chr17:45654430-45654451	MCF-7	breast:	n/a	n/a
28	POLR2A	chr17:45656185-45656389	ProgFib	skin:	n/a	n/a
29	POLR2A	chr17:45656261-45656268	MCF-7	breast:	n/a	n/a
30	POLR2A	chr17:45652340-45652376	MCF-7	breast:	n/a	n/a
31	POLR2A	chr17:45656297-45656340	MCF-7	breast:	n/a	n/a
32	POLR2A	chr17:45656189-45656211	MCF-7	breast:	n/a	n/a
33	POLR2A	chr17:45656343-45656362	MCF-7	breast:	n/a	n/a
34	POLR2A	chr17:45654614-45654632	MCF-7	breast:	n/a	n/a
35	POLR2A	chr17:45656278-45656287	MCF-7	breast:	n/a	n/a
36	POLR2A	chr17:45649576-45649614	MCF-7	breast:	n/a	n/a
37	POLR2A	chr17:45647500-45647594	MCF-7	breast:	n/a	n/a
38	POLR2A	chr17:45655618-45655628	MCF-7	breast:	n/a	n/a
39	POLR2A	chr17:45651018-45651083	ProgFib	skin:	n/a	n/a
40	POLR2A	chr17:45647390-45647391	MCF-7	breast:	n/a	n/a
41	POLR2A	chr17:45651996-45652307	MCF-7	breast:	n/a	n/a
42	POLR2A	chr17:45647488-45647564	MCF-7	breast:	n/a	n/a
43	POLR2A	chr17:45647077-45647169	MCF-7	breast:	n/a	n/a
44	POLR2A	chr17:45654577-45654611	MCF-7	breast:	n/a	n/a
45	POLR2A	chr17:45650200-45650222	MCF-7	breast:	n/a	n/a
46	POLR2A	chr17:45651142-45651165	MCF-7	breast:	n/a	n/a
47	POLR2A	chr17:45651984-45652103	A549	lung:	n/a	n/a
48	POLR2A	chr17:45655739-45655809	MCF-7	breast:	n/a	n/a
49	POLR2A	chr17:45651887-45651994	MCF-7	breast:	n/a	n/a
50	POLR2A	chr17:45651079-45651117	MCF-7	breast:	n/a	n/a

No data

Variant related genes	Relation type
NPEPPS	TF binding region

Extended variants
information (count: 340 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539571083	chr17:45647007-45647008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553457855	chr17:45647041-45647042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573357551	chr17:45647065-45647066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8082284	chr17:45647067-45647068	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs113988068	chr17:45647083-45647084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112926575	chr17:45647086-45647087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576019458	chr17:45647087-45647088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111788971	chr17:45647098-45647099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544858246	chr17:45647108-45647109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564548864	chr17:45647149-45647150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533601676	chr17:45647223-45647224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113385861	chr17:45647232-45647233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540455438	chr17:45647263-45647264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181904721	chr17:45647274-45647275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112695714	chr17:45647284-45647285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528171058	chr17:45647345-45647346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547784279	chr17:45647360-45647361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369690044	chr17:45647405-45647406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567676588	chr17:45647422-45647423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530727582	chr17:45647509-45647510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112048003	chr17:45647510-45647511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111514243	chr17:45647514-45647515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533203574	chr17:45647540-45647541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373086269	chr17:45647564-45647565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112754163	chr17:45647595-45647596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550821556	chr17:45647599-45647600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112691744	chr17:45647600-45647601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570634161	chr17:45647618-45647619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539652482	chr17:45647631-45647632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185747055	chr17:45647654-45647655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370826028	chr17:45647668-45647669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190652903	chr17:45647672-45647673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567015934	chr17:45647703-45647704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113889068	chr17:45647711-45647712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377553834	chr17:45647739-45647740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149858893	chr17:45647742-45647743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113111967	chr17:45647743-45647744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547650813	chr17:45647768-45647769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566381500	chr17:45647776-45647777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112603826	chr17:45647796-45647797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112778396	chr17:45647807-45647808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111471113	chr17:45647819-45647820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138270820	chr17:45647828-45647829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112623312	chr17:45647835-45647836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181503187	chr17:45647863-45647864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373476667	chr17:45647870-45647871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578182027	chr17:45647888-45647889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113820824	chr17:45647932-45647933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540870182	chr17:45647995-45647996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560268495	chr17:45647997-45647998	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:186 , 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	chr17:45610400-45647600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr17:45610400-45647600	Weak transcription	Osteobl	bone
7	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
8	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr17:45610600-45662200	Weak transcription	HSMM	muscle
10	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:45610800-45669000	Weak transcription	NH-A	brain
13	chr17:45611200-45647600	Weak transcription	HSMMtube	muscle
14	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
15	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr17:45617000-45647600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:45618000-45649200	Weak transcription	Right Ventricle	heart
18	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
19	chr17:45618800-45669200	Weak transcription	HUVEC	blood vessel
20	chr17:45619400-45667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr17:45619400-45668200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr17:45622000-45647600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:45622400-45653000	Weak transcription	Colonic Mucosa	Colon
24	chr17:45622800-45669000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
26	chr17:45625000-45647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr17:45625000-45668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr17:45625200-45647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:45625200-45667200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr17:45625200-45670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:45627000-45649200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:45629600-45667400	Weak transcription	Left Ventricle	heart
33	chr17:45629800-45673400	Weak transcription	K562	blood
34	chr17:45635400-45670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:45636800-45647600	Weak transcription	NHLF	lung
36	chr17:45637400-45667200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr17:45637400-45669000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr17:45637400-45670600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:45637800-45678800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr17:45638000-45647600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr17:45638000-45649000	Weak transcription	HepG2	liver
42	chr17:45638000-45667400	Weak transcription	Primary T cells from cord blood	blood
43	chr17:45638000-45667400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr17:45638200-45667400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr17:45638800-45669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr17:45639200-45656400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr17:45639400-45647400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr17:45639400-45659200	Weak transcription	Liver	Liver
49	chr17:45639400-45659400	Weak transcription	A549	lung
50	chr17:45639600-45675000	Weak transcription	Brain Angular Gyrus	brain

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