Variant report

Variant	esv3431433
Chromosome Location	chr7:4231976-4234124
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	chr7:4224652..4226718-chr7:4229640..4232144,2	K562	blood:

Extended variants
information (count: 183 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369357790	chr7:4231993-4231994	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558488713	chr7:4231994-4231995	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532131214	chr7:4232003-4232004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541677495	chr7:4232015-4232016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373210717	chr7:4232049-4232050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146485844	chr7:4232054-4232055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148962907	chr7:4232055-4232056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564800490	chr7:4232066-4232067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532443206	chr7:4232067-4232068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535768295	chr7:4232088-4232089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143702434	chr7:4232106-4232107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185306915	chr7:4232128-4232129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561284798	chr7:4232153-4232154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148105591	chr7:4232154-4232155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371161265	chr7:4232163-4232164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550108508	chr7:4232166-4232167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570105583	chr7:4232167-4232168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552923343	chr7:4232170-4232171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189684162	chr7:4232197-4232198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140936563	chr7:4232198-4232199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115553721	chr7:4232199-4232200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146282926	chr7:4232203-4232204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554864269	chr7:4232213-4232214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139389297	chr7:4232237-4232238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79213137	chr7:4232238-4232239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556894332	chr7:4232241-4232242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115658011	chr7:4232283-4232284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116181206	chr7:4232284-4232285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559068354	chr7:4232304-4232305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572494932	chr7:4232310-4232311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541431047	chr7:4232327-4232328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561196743	chr7:4232335-4232336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35737247	chr7:4232342-4232343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143312760	chr7:4232351-4232352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182346191	chr7:4232357-4232358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147095514	chr7:4232380-4232381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532790862	chr7:4232381-4232382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138262466	chr7:4232382-4232383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115190815	chr7:4232386-4232387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534970765	chr7:4232408-4232409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116655513	chr7:4232427-4232428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149605401	chr7:4232435-4232436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536929302	chr7:4232436-4232437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114040467	chr7:4232477-4232478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371084259	chr7:4232478-4232479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115067239	chr7:4232515-4232516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539288854	chr7:4232521-4232522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375252231	chr7:4232542-4232543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572605407	chr7:4232552-4232553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115866240	chr7:4232557-4232558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4226800-4235800	Weak transcription	Spleen	Spleen
2	chr7:4229000-4240000	Weak transcription	Fetal Lung	lung
3	chr7:4229400-4244400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:4229800-4268400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:4230000-4245600	Weak transcription	Pancreas	Pancrea
6	chr7:4230200-4235600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:4230400-4235000	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:4230400-4237200	Weak transcription	Fetal Intestine Small	intestine
9	chr7:4230600-4234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:4230600-4242600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:4230800-4232000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:4231000-4239800	Weak transcription	Fetal Stomach	stomach
13	chr7:4231200-4234800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:4231200-4235000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:4231200-4238600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:4231600-4235400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:4231600-4239800	Weak transcription	Right Atrium	heart
18	chr7:4231800-4233000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:4231800-4234800	Weak transcription	Esophagus	oesophagus
20	chr7:4232000-4235200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:4233000-4236600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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