Variant report

Variant	esv1807573
Chromosome Location	chr7:4084716-4111112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4088154..4090375-chr7:4090451..4092964,2	MCF-7	breast:
2	chr7:4091304..4093218-chr7:4095226..4096867,2	K562	blood:
3	chr7:4082285..4084220-chr7:4087738..4090486,2	K562	blood:
4	chr7:4091304..4093218-chr7:4095226..4096867,2	K562	blood:
5	chr7:4088154..4090375-chr7:4090451..4092964,2	MCF-7	breast:

Extended variants
information (count: 1399 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1399 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7810949	chr7:4084716-4084717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147270430	chr7:4084741-4084742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73300995	chr7:4084744-4084745	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554120712	chr7:4084751-4084752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79388027	chr7:4084759-4084760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541551541	chr7:4084763-4084764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554783492	chr7:4084766-4084767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139087606	chr7:4084778-4084779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115291008	chr7:4084789-4084790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201881586	chr7:4084833-4084834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185682783	chr7:4084839-4084840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190203439	chr7:4084843-4084844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193264010	chr7:4084854-4084855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564992618	chr7:4084866-4084867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116662980	chr7:4084872-4084873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200954718	chr7:4084911-4084912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7810233	chr7:4084920-4084921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562743103	chr7:4084933-4084934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531009621	chr7:4084961-4084962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548140175	chr7:4084993-4084994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142976338	chr7:4084997-4084998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549529114	chr7:4085009-4085010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147544847	chr7:4085010-4085011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535299197	chr7:4085069-4085070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561391047	chr7:4085112-4085113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530479846	chr7:4085115-4085116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550000384	chr7:4085116-4085117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528460899	chr7:4085126-4085127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569910185	chr7:4085129-4085130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376744628	chr7:4085130-4085131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201106352	chr7:4085135-4085136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556727320	chr7:4085158-4085159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566330742	chr7:4085209-4085210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534734189	chr7:4085226-4085227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74713369	chr7:4085231-4085232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139418838	chr7:4085241-4085242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201750739	chr7:4085248-4085249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376206399	chr7:4085249-4085250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576505225	chr7:4085256-4085257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185036500	chr7:4085257-4085258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577095791	chr7:4085268-4085269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4266542	chr7:4085271-4085272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150285154	chr7:4085277-4085278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371952293	chr7:4085280-4085281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559409265	chr7:4085288-4085289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79574730	chr7:4085296-4085297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369601304	chr7:4085305-4085306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181108174	chr7:4085306-4085307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530564195	chr7:4085311-4085312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550241645	chr7:4085334-4085335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Cancer	20164920	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4059000-4091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:4066800-4087200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:4066800-4091200	Weak transcription	Pancreas	Pancrea
4	chr7:4077800-4087800	Weak transcription	Spleen	Spleen
5	chr7:4078000-4091200	Weak transcription	Aorta	Aorta
6	chr7:4082400-4089800	Weak transcription	Fetal Stomach	stomach
7	chr7:4082400-4091200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:4082800-4097000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:4083600-4084800	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:4083800-4087400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:4084000-4087800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:4084000-4092800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:4087200-4087400	Active TSS	Gastric	stomach
14	chr7:4087200-4089400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:4087400-4087600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:4087400-4096600	Weak transcription	Gastric	stomach
17	chr7:4087600-4111800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:4087800-4088400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:4087800-4088400	ZNF genes & repeats	Spleen	Spleen
20	chr7:4088400-4089000	Weak transcription	Spleen	Spleen
21	chr7:4088800-4129400	Weak transcription	Right Ventricle	heart
22	chr7:4089000-4089200	Enhancers	Esophagus	oesophagus
23	chr7:4089000-4089200	ZNF genes & repeats	Spleen	Spleen
24	chr7:4089000-4090200	Enhancers	Fetal Brain Male	brain
25	chr7:4089200-4091200	Weak transcription	Spleen	Spleen
26	chr7:4089400-4091000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:4089400-4091600	Weak transcription	Esophagus	oesophagus
28	chr7:4089600-4090000	Enhancers	Fetal Brain Female	brain
29	chr7:4089800-4090000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:4089800-4090200	Enhancers	Fetal Stomach	stomach
31	chr7:4089800-4090200	Enhancers	HepG2	liver
32	chr7:4090000-4090200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr7:4090000-4090400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:4090000-4096600	Weak transcription	Fetal Lung	lung
35	chr7:4090200-4091200	Weak transcription	Fetal Stomach	stomach
36	chr7:4090200-4091400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:4090400-4092800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:4090600-4092800	Weak transcription	Left Ventricle	heart
39	chr7:4091000-4093200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:4091200-4091800	Genic enhancers	Spleen	Spleen
41	chr7:4091200-4092000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:4091200-4092000	Strong transcription	Aorta	Aorta
43	chr7:4091200-4093000	Enhancers	Fetal Muscle Trunk	muscle
44	chr7:4091200-4093200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:4091200-4093200	Enhancers	Fetal Muscle Leg	muscle
46	chr7:4091200-4093200	Enhancers	Fetal Stomach	stomach
47	chr7:4091200-4093400	Strong transcription	Pancreas	Pancrea
48	chr7:4091400-4091800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:4091400-4092000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:4091600-4091800	Enhancers	Fetal Intestine Small	intestine

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