Variant report

Variant	esv1811169
Chromosome Location	chr7:4302966-4304317
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	chr7:4287888..4289875-chr7:4302608..4305550,2	MCF-7	breast:
2	chr7:4302968..4305028-chr7:4309435..4311444,2	MCF-7	breast:

Extended variants
information (count: 134 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4720208	chr7:4302987-4302988	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548406997	chr7:4302996-4302997	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192103656	chr7:4302998-4302999	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536677356	chr7:4303030-4303031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556562824	chr7:4303039-4303040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576292340	chr7:4303052-4303053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539326604	chr7:4303053-4303054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558835027	chr7:4303054-4303055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199945343	chr7:4303072-4303073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139246001	chr7:4303081-4303082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572643801	chr7:4303088-4303089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541156564	chr7:4303096-4303097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555134581	chr7:4303109-4303110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73671408	chr7:4303118-4303119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184281754	chr7:4303138-4303139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543809413	chr7:4303145-4303146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370378875	chr7:4303146-4303147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9719346	chr7:4303155-4303156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35174673	chr7:4303174-4303175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9718560	chr7:4303175-4303176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62438361	chr7:4303179-4303180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546126483	chr7:4303196-4303197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529827999	chr7:4303208-4303209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79334659	chr7:4303211-4303212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113491580	chr7:4303215-4303216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74651089	chr7:4303225-4303226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9719349	chr7:4303251-4303252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78497571	chr7:4303268-4303269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556158210	chr7:4303297-4303298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370487777	chr7:4303299-4303300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs5882017	chr7:4303327-4303328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528325058	chr7:4303330-4303331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547958487	chr7:4303331-4303332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373562037	chr7:4303340-4303341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368044626	chr7:4303369-4303370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs5026810	chr7:4303393-4303394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74357853	chr7:4303401-4303402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540358938	chr7:4303412-4303413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567789117	chr7:4303429-4303430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530538006	chr7:4303441-4303442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374943557	chr7:4303449-4303450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368411852	chr7:4303482-4303483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545690158	chr7:4303496-4303497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369532384	chr7:4303497-4303498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80090699	chr7:4303510-4303511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113943430	chr7:4303534-4303535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75027552	chr7:4303565-4303566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77665804	chr7:4303567-4303568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375487512	chr7:4303570-4303571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559872509	chr7:4303610-4303611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4287600-4304200	Weak transcription	Gastric	stomach
2	chr7:4289200-4304000	Weak transcription	Pancreas	Pancrea
3	chr7:4291400-4304200	Weak transcription	Aorta	Aorta
4	chr7:4294800-4311800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:4298200-4307400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:4301400-4304200	Weak transcription	Fetal Intestine Small	intestine
7	chr7:4301400-4304600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:4301400-4306600	Weak transcription	HSMMtube	muscle
9	chr7:4301600-4304000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:4301600-4304400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:4301600-4304600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:4301600-4306600	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:4301600-4306600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:4301600-4307000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:4301600-4309800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:4302600-4303000	Enhancers	HSMM	muscle
17	chr7:4302800-4303000	Bivalent Enhancer	Fetal Stomach	stomach
18	chr7:4303800-4304200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:4304000-4304400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:4304000-4305000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:4304000-4307400	Strong transcription	Pancreas	Pancrea
22	chr7:4304200-4304400	Enhancers	Right Ventricle	heart
23	chr7:4304200-4305000	ZNF genes & repeats	Gastric	stomach
24	chr7:4304200-4306600	Strong transcription	Fetal Intestine Small	intestine
25	chr7:4304200-4308400	Strong transcription	Aorta	Aorta

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