Variant report

Variant	nsv528514
Chromosome Location	chr17:44979705-44983181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:44982902..44984528-chr17:44989442..44992407,2	K562	blood:
2	chr17:44974235..44975776-chr17:44981601..44983769,2	K562	blood:
3	chr17:44980885..44982859-chr17:44998569..45001010,2	MCF-7	breast:
4	chr17:44976318..44978011-chr17:44981364..44983964,2	K562	blood:
5	chr17:44982234..44984014-chr17:45005166..45007066,2	K562	blood:

Variant related genes	Relation type
ENSG00000262633	chromatin interactions
ENSG00000108433	chromatin interactions
ENSG00000261886	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs197943	chr17:44979705-44979706	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79507995	chr17:44979717-44979718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145135563	chr17:44979740-44979741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548251631	chr17:44979812-44979813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58371473	chr17:44979827-44979828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372785708	chr17:44979828-44979829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3039756	chr17:44979834-44979835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34649681	chr17:44979848-44979849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs5820634	chr17:44979855-44979856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568062104	chr17:44979870-44979871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536999877	chr17:44979928-44979929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7210725	chr17:44979932-44979933	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531889181	chr17:44979969-44979970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544230109	chr17:44979970-44979971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576833710	chr17:44979996-44979997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539644630	chr17:44980001-44980002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562434944	chr17:44980059-44980060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533083156	chr17:44980117-44980118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139040009	chr17:44980170-44980171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573131846	chr17:44980248-44980249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186688374	chr17:44980282-44980283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192457113	chr17:44980299-44980300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551451068	chr17:44980306-44980307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575243137	chr17:44980346-44980347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544166609	chr17:44980410-44980411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142136405	chr17:44980423-44980424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533246469	chr17:44980485-44980486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185884027	chr17:44980509-44980510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560513022	chr17:44980562-44980563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188301524	chr17:44980571-44980572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549703294	chr17:44980583-44980584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563940814	chr17:44980585-44980586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547356674	chr17:44980640-44980641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537063593	chr17:44980641-44980642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541018657	chr17:44980648-44980649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548479421	chr17:44980649-44980650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35009957	chr17:44980660-44980661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193190499	chr17:44980674-44980675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78897414	chr17:44980760-44980761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539148721	chr17:44980835-44980836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553179715	chr17:44980863-44980864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201016725	chr17:44980870-44980871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535231881	chr17:44980915-44980916	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs77475166	chr17:44980917-44980918	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs575169628	chr17:44980930-44980931	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs544227261	chr17:44980976-44980977	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs540173354	chr17:44980993-44980994	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs567582863	chr17:44981025-44981026	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs197944	chr17:44981046-44981047	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556158558	chr17:44981051-44981052	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44973000-44987200	Weak transcription	Pancreas	Pancrea
2	chr17:44979600-44979800	Enhancers	K562	blood
3	chr17:44979600-44980000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr17:44979600-44980200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr17:44979600-44980400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr17:44980000-44982800	Weak transcription	K562	blood
7	chr17:44980000-44983000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:44980200-44983000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:44980400-44982800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:44982800-44983200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:44982800-44983200	Bivalent Enhancer	HepG2	liver
12	chr17:44982800-44983200	Enhancers	K562	blood
13	chr17:44982800-44983400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:44982800-44983600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr17:44982800-44983800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr17:44982800-44983800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr17:44982800-44984200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr17:44982800-44984200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr17:44982800-44985800	Enhancers	Spleen	Spleen
20	chr17:44983000-44983600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr17:44983000-44983600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr17:44983000-44983600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:44983000-44983600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:44983000-44983600	Enhancers	Primary hematopoietic stem cells	blood
25	chr17:44983000-44983800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr17:44983000-44984200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:44983000-44984800	Enhancers	Lung	lung

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