Variant report

Variant	esv3526868
Chromosome Location	chr7:4081177-4082330
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	chr7:4082285..4084220-chr7:4087738..4090486,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147932770	chr7:4081177-4081178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546309116	chr7:4081189-4081190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12155314	chr7:4081194-4081195	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs188337145	chr7:4081205-4081206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12155028	chr7:4081219-4081220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561848460	chr7:4081221-4081222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12155317	chr7:4081250-4081251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373596932	chr7:4081264-4081265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543811620	chr7:4081266-4081267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563699608	chr7:4081267-4081268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552836238	chr7:4081280-4081281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75558718	chr7:4081369-4081370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181868388	chr7:4081384-4081385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79124675	chr7:4081398-4081399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75512225	chr7:4081400-4081401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185701677	chr7:4081405-4081406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150335807	chr7:4081448-4081449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371671828	chr7:4081457-4081458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537698961	chr7:4081468-4081469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190210048	chr7:4081469-4081470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181914377	chr7:4081477-4081478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539965519	chr7:4081478-4081479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59373847	chr7:4081483-4081484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376728134	chr7:4081528-4081529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573252299	chr7:4081539-4081540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59763818	chr7:4081545-4081546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559497771	chr7:4081592-4081593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149041648	chr7:4081594-4081595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186985286	chr7:4081603-4081604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191023822	chr7:4081652-4081653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563786735	chr7:4081655-4081656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143035127	chr7:4081680-4081681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138512823	chr7:4081698-4081699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141852363	chr7:4081699-4081700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181249993	chr7:4081745-4081746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386709525	chr7:4081790-4081791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7805307	chr7:4081791-4081792	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531278805	chr7:4081805-4081806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551271517	chr7:4081813-4081814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145514875	chr7:4081831-4081832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571080552	chr7:4081834-4081835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576386449	chr7:4081841-4081842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537474093	chr7:4081892-4081893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7786018	chr7:4081955-4081956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546942660	chr7:4081962-4081963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542721541	chr7:4081974-4081975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113398871	chr7:4082051-4082052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374009137	chr7:4082066-4082067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7787305	chr7:4082070-4082071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs367854000	chr7:4082075-4082076	Weak transcription Enhancers	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4059000-4091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:4066800-4082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:4066800-4087200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:4066800-4091200	Weak transcription	Pancreas	Pancrea
5	chr7:4077800-4087800	Weak transcription	Spleen	Spleen
6	chr7:4078000-4091200	Weak transcription	Aorta	Aorta
7	chr7:4078400-4081200	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:4079600-4081400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:4079600-4083800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:4080200-4081200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:4080200-4081600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:4080200-4082000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:4080200-4083800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:4080200-4083800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:4080200-4083800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:4080600-4081200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:4080600-4084000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:4080800-4081400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:4080800-4082200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:4080800-4083200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:4081200-4081400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:4081200-4081400	Enhancers	Fetal Muscle Leg	muscle
23	chr7:4081400-4081800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:4081400-4082200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:4081400-4082200	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:4081400-4082600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:4081600-4082000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:4081800-4082600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:4082000-4082400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:4082000-4082400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:4082000-4082400	Enhancers	Fetal Muscle Trunk	muscle
32	chr7:4082000-4083400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:4082000-4084000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:4082200-4082400	Enhancers	NH-A	brain
35	chr7:4082200-4082800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:4082200-4082800	Enhancers	Esophagus	oesophagus
37	chr7:4082200-4082800	Enhancers	Fetal Muscle Leg	muscle
38	chr7:4082200-4083400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:4082200-4083600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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