Variant report

Variant	esv2761095
Chromosome Location	chr7:3487114-3496243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 537 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186458666	chr7:3487118-3487119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372918679	chr7:3487126-3487127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77999363	chr7:3487129-3487130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550489509	chr7:3487147-3487148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570409578	chr7:3487201-3487202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538618876	chr7:3487205-3487206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532999964	chr7:3487216-3487217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191688434	chr7:3487217-3487218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566045033	chr7:3487250-3487251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535090260	chr7:3487266-3487267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554681889	chr7:3487268-3487269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568501355	chr7:3487274-3487275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183519552	chr7:3487307-3487308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7779688	chr7:3487320-3487321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544003347	chr7:3487330-3487331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545926533	chr7:3487332-3487333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56137514	chr7:3487352-3487353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150580975	chr7:3487367-3487368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139576316	chr7:3487370-3487371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546082976	chr7:3487392-3487393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553501088	chr7:3487393-3487394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10259354	chr7:3487414-3487415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376394389	chr7:3487428-3487429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541939559	chr7:3487430-3487431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561424804	chr7:3487492-3487493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146236634	chr7:3487521-3487522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188760707	chr7:3487528-3487529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191114394	chr7:3487548-3487549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182677075	chr7:3487550-3487551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34149107	chr7:3487571-3487572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10231085	chr7:3487597-3487598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143685025	chr7:3487610-3487611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560259567	chr7:3487616-3487617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529063157	chr7:3487631-3487632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548694257	chr7:3487637-3487638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548727717	chr7:3487679-3487680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186637014	chr7:3487694-3487695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115837328	chr7:3487700-3487701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571180631	chr7:3487717-3487718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540088832	chr7:3487729-3487730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191289981	chr7:3487735-3487736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56309522	chr7:3487754-3487755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145713712	chr7:3487758-3487759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531202312	chr7:3487805-3487806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148922100	chr7:3487863-3487864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543353455	chr7:3487864-3487865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543807502	chr7:3487905-3487906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563711778	chr7:3487924-3487925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142983944	chr7:3487933-3487934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9969296	chr7:3488013-3488014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Nasopharyngeal cancer	20548289	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

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3479600-3492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3480000-3508600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:3486000-3495200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:3486400-3487200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:3486800-3487600	Weak transcription	HSMM	muscle
6	chr7:3487600-3489000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:3487600-3489000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:3488400-3488800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:3488400-3489000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:3488400-3489000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:3488400-3489000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:3488400-3489000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:3488600-3489000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:3488600-3489000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:3488600-3489000	Enhancers	Fetal Lung	lung
16	chr7:3489000-3490800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:3489000-3492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:3489000-3495600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:3489000-3496200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:3489000-3496400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:3489000-3496400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:3490800-3491000	Enhancers	Aorta	Aorta
23	chr7:3490800-3491200	Enhancers	Pancreas	Pancrea
24	chr7:3490800-3491600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:3491000-3496400	Weak transcription	Aorta	Aorta
26	chr7:3491200-3491400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr7:3491200-3491400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr7:3491200-3526600	Weak transcription	Pancreas	Pancrea
29	chr7:3491400-3492000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:3491800-3492600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:3492000-3492200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr7:3492000-3494200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:3492200-3493000	Weak transcription	HSMM	muscle
34	chr7:3492200-3495000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr7:3492400-3492800	Enhancers	Spleen	Spleen
36	chr7:3492600-3493400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:3493000-3493600	Enhancers	HSMM	muscle
38	chr7:3493200-3493400	Enhancers	Fetal Muscle Leg	muscle
39	chr7:3493400-3496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:3493600-3506000	Weak transcription	HSMM	muscle
41	chr7:3494200-3495000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:3494400-3497400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:3495000-3497000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:3495200-3496000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr7:3495200-3496200	Enhancers	NH-A	brain
46	chr7:3495600-3496800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:3496000-3507000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:3496200-3497000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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