Variant report

Variant	esv2762683
Chromosome Location	chr7:83916748-83932659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83910288..83912850-chr7:83915502..83917742,2	MCF-7	breast:
2	chr7:83931885..83934737-chr7:83944404..83946185,3	K562	blood:

Extended variants
information (count: 564 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141932374	chr7:83916837-83916838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12674281	chr7:83916870-83916871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531165364	chr7:83916873-83916874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549566040	chr7:83916881-83916882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570783206	chr7:83916904-83916905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567971029	chr7:83916929-83916930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74922866	chr7:83917040-83917041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193068190	chr7:83917057-83917058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567708670	chr7:83917061-83917062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565585585	chr7:83917114-83917115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539023763	chr7:83917115-83917116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539548817	chr7:83917131-83917132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77270508	chr7:83917148-83917149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74506276	chr7:83917162-83917163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543232448	chr7:83917195-83917196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555221434	chr7:83917204-83917205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77402198	chr7:83917212-83917213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541011251	chr7:83917230-83917231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146799822	chr7:83917293-83917294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556492761	chr7:83917337-83917338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377526967	chr7:83917368-83917369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111848505	chr7:83917405-83917406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28407063	chr7:83917446-83917447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113525175	chr7:83917448-83917449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185034034	chr7:83917468-83917469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62472571	chr7:83917489-83917490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575947909	chr7:83917556-83917557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75872286	chr7:83917620-83917621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139282198	chr7:83917625-83917626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143312463	chr7:83917635-83917636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571957623	chr7:83917646-83917647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528681215	chr7:83917694-83917695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs41391055	chr7:83917699-83917700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs74763981	chr7:83917738-83917739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190320892	chr7:83917792-83917793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79260887	chr7:83917801-83917802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76666255	chr7:83917816-83917817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113772773	chr7:83917834-83917835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555434397	chr7:83917906-83917907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573803323	chr7:83917910-83917911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541200939	chr7:83917935-83917936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553027784	chr7:83917938-83917939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529748425	chr7:83917939-83917940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543075788	chr7:83918039-83918040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572521095	chr7:83918042-83918043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577974351	chr7:83918050-83918051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545441777	chr7:83918092-83918093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563627814	chr7:83918113-83918114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78410178	chr7:83918205-83918206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181039136	chr7:83918231-83918232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83894200-83924000	Weak transcription	NHDF-Ad	bronchial
2	chr7:83913800-83921200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:83921000-83921400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:83921000-83921400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr7:83921000-83921400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:83921000-83921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:83921000-83921600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:83921000-83922000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:83921200-83921600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:83921200-83921600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:83921200-83921600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:83921200-83921600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:83921200-83921600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:83924000-83924400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:83924000-83924400	Enhancers	NHDF-Ad	bronchial
16	chr7:83924200-83924600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:83924400-83943800	Weak transcription	NHDF-Ad	bronchial
18	chr7:83930800-83950000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:83931600-83932400	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:83931800-83932800	Enhancers	NHEK	skin
21	chr7:83932000-83932600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr7:83932000-83932800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr7:83932000-83932800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:83932000-83933200	Enhancers	HMEC	breast
25	chr7:83932400-83932600	Enhancers	Colon Smooth Muscle	Colon
26	chr7:83932400-83932600	Enhancers	Esophagus	oesophagus
27	chr7:83932400-83932600	Enhancers	Rectal Smooth Muscle	rectum
28	chr7:83932400-83933600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:83932600-83935800	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:83932600-83936800	Weak transcription	Rectal Smooth Muscle	rectum

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