Variant report

Variant	nsv516367
Chromosome Location	chr17:60275061-60297996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60264159..60269831-chr17:60270866..60277110,6	MCF-7	breast:
2	chr17:60246778..60249931-chr17:60288203..60290527,3	K562	blood:
3	chr17:59940099..59941909-chr17:60281824..60283807,2	MCF-7	breast:
4	chr17:60004164..60005781-chr17:60283759..60285448,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136492	chromatin interactions
ENSG00000108506	chromatin interactions

Extended variants
information (count: 720 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:720 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7218522	chr17:60275061-60275062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535199365	chr17:60275068-60275069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80017838	chr17:60275094-60275095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573742871	chr17:60275111-60275112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566157699	chr17:60275115-60275116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535319529	chr17:60275129-60275130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558515799	chr17:60275133-60275134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78720284	chr17:60275150-60275151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543879688	chr17:60275227-60275228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556596413	chr17:60275232-60275233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75422294	chr17:60275269-60275270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9913415	chr17:60275283-60275284	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542777310	chr17:60275298-60275299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10451273	chr17:60275300-60275301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574051424	chr17:60275340-60275341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74701757	chr17:60275367-60275368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564078178	chr17:60275375-60275376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368700567	chr17:60275512-60275513	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs79150873	chr17:60275516-60275517	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs541847560	chr17:60275592-60275593	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs80144601	chr17:60275606-60275607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560250137	chr17:60275630-60275631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143491960	chr17:60275631-60275632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528948690	chr17:60275662-60275663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572161754	chr17:60275796-60275797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182959144	chr17:60275798-60275799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543755957	chr17:60275834-60275835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561417718	chr17:60275836-60275837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571930429	chr17:60275851-60275852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537744220	chr17:60275879-60275880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112991205	chr17:60275901-60275902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115614243	chr17:60275904-60275905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146654091	chr17:60275942-60275943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553221805	chr17:60275943-60275944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139050131	chr17:60275947-60275948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9892294	chr17:60275978-60275979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10451263	chr17:60275984-60275985	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577484299	chr17:60275989-60275990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368682116	chr17:60276021-60276022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186125681	chr17:60276085-60276086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565053700	chr17:60276097-60276098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563279220	chr17:60276100-60276101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532285078	chr17:60276122-60276123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528909108	chr17:60276134-60276135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs55734379	chr17:60276147-60276148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191997608	chr17:60276151-60276152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527423661	chr17:60276177-60276178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528205888	chr17:60276189-60276190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184231926	chr17:60276198-60276199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547280579	chr17:60276223-60276224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
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
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	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
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Sensorineural hearing loss	22052739	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60274200-60276600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr17:60274600-60276200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:60274800-60275400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr17:60275200-60275400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr17:60275400-60275600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:60275800-60276000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:60276000-60276200	Enhancers	Placenta	Placenta
8	chr17:60276200-60279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:60276600-60277600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr17:60277600-60278400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr17:60278400-60281600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr17:60278600-60285200	Weak transcription	Right Atrium	heart
13	chr17:60278800-60279600	Enhancers	K562	blood
14	chr17:60279600-60280400	Weak transcription	K562	blood
15	chr17:60280400-60280600	Enhancers	K562	blood
16	chr17:60280400-60282200	Enhancers	Placenta	Placenta
17	chr17:60280600-60282600	Weak transcription	K562	blood
18	chr17:60281600-60284400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr17:60282000-60282200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:60282000-60282200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:60282000-60284200	Enhancers	HepG2	liver
22	chr17:60282000-60284200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr17:60282200-60283800	Weak transcription	Placenta	Placenta
24	chr17:60282400-60284000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:60282400-60284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:60282600-60284200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:60283000-60283200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:60283200-60284400	Enhancers	Hela-S3	cervix
29	chr17:60283800-60284000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:60283800-60284400	Enhancers	HUVEC	blood vessel
31	chr17:60283800-60285200	Enhancers	Placenta	Placenta
32	chr17:60284000-60284200	Enhancers	K562	blood
33	chr17:60284000-60284400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:60284000-60284400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:60284000-60284400	Enhancers	Lung	lung
36	chr17:60285200-60292000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr17:60292000-60292200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr17:60294400-60294600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:60296600-60296800	Bivalent Enhancer	HSMMtube	muscle
40	chr17:60297000-60297400	Enhancers	Primary monocytes fromperipheralblood	blood

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