Variant report

Variant	esv18100
Chromosome Location	chr7:4073333-4082299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4082285..4084220-chr7:4087738..4090486,2	K562	blood:
2	chr7:4074370..4074950-chr7:4518765..4519624,3	MCF-7	breast:
3	chr7:4067708..4070701-chr7:4072380..4075049,2	MCF-7	breast:

Extended variants
information (count: 496 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67820803	chr7:4073338-4073339	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs68189920	chr7:4073354-4073355	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568345072	chr7:4073359-4073360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144337257	chr7:4073370-4073371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185982049	chr7:4073377-4073378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577490764	chr7:4073390-4073391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28634483	chr7:4073394-4073395	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs71527467	chr7:4073424-4073425	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs367650182	chr7:4073438-4073439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28372090	chr7:4073447-4073448	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562140349	chr7:4073448-4073449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28591614	chr7:4073466-4073467	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114620168	chr7:4073480-4073481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564097984	chr7:4073524-4073525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113521913	chr7:4073527-4073528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28692591	chr7:4073528-4073529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190744264	chr7:4073579-4073580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377578238	chr7:4073586-4073587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10237319	chr7:4073601-4073602	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182613294	chr7:4073602-4073603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370433023	chr7:4073609-4073610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187315443	chr7:4073614-4073615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10265937	chr7:4073649-4073650	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7807723	chr7:4073666-4073667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537518294	chr7:4073673-4073674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551160805	chr7:4073731-4073732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73300920	chr7:4073735-4073736	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182602075	chr7:4073748-4073749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553697218	chr7:4073752-4073753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566897936	chr7:4073758-4073759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535831763	chr7:4073791-4073792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73300921	chr7:4073794-4073795	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs539325215	chr7:4073796-4073797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371887867	chr7:4073802-4073803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544332998	chr7:4073803-4073804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557940390	chr7:4073818-4073819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10266101	chr7:4073819-4073820	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369991043	chr7:4073823-4073824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540550838	chr7:4073852-4073853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535880301	chr7:4073868-4073869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187617436	chr7:4073875-4073876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73300923	chr7:4073909-4073910	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs111865126	chr7:4073964-4073965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73300926	chr7:4073980-4073981	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs75133554	chr7:4073985-4073986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10237838	chr7:4073998-4073999	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10237842	chr7:4074014-4074015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533339048	chr7:4074029-4074030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77206758	chr7:4074051-4074052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10237956	chr7:4074079-4074080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic cancer	17952125	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4059000-4091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:4061400-4080800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:4065600-4077000	Weak transcription	Aorta	Aorta
4	chr7:4066800-4082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:4066800-4087200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:4066800-4091200	Weak transcription	Pancreas	Pancrea
7	chr7:4073000-4073400	Enhancers	Primary T cells from cord blood	blood
8	chr7:4073200-4073800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:4073200-4073800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:4073200-4074000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:4073200-4074000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:4073200-4074000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:4073200-4074000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:4073200-4074000	Enhancers	Fetal Lung	lung
15	chr7:4073200-4074200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:4073200-4074400	Enhancers	Fetal Brain Male	brain
17	chr7:4073400-4074000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:4073800-4079200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:4074000-4078400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:4074000-4078400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:4074000-4079200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:4074000-4079600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:4074200-4079200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:4077000-4078000	Strong transcription	Aorta	Aorta
25	chr7:4077600-4077800	Enhancers	Spleen	Spleen
26	chr7:4077800-4078000	Enhancers	Fetal Muscle Leg	muscle
27	chr7:4077800-4087800	Weak transcription	Spleen	Spleen
28	chr7:4078000-4091200	Weak transcription	Aorta	Aorta
29	chr7:4078400-4078600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:4078400-4078600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:4078400-4078800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:4078400-4078800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:4078400-4081200	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:4078600-4079000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:4078600-4079600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:4078800-4079000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:4078800-4079200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:4079000-4079600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr7:4079000-4080000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:4079200-4079800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:4079200-4080000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:4079200-4080200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:4079200-4080200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:4079400-4079600	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr7:4079600-4079800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr7:4079600-4080000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:4079600-4080200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
48	chr7:4079600-4080800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr7:4079600-4081400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:4079600-4083800	Enhancers	HUES6 Cell Line	embryonic stem cell

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