Variant report

Variant	esv3526866
Chromosome Location	chr7:4080576-4083274
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: 143 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566037451	chr7:4080600-4080601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs7803897	chr7:4080629-4080630	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184847086	chr7:4080632-4080633	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs113483597	chr7:4080664-4080665	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543924674	chr7:4080675-4080676	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs374678816	chr7:4080676-4080677	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs571880609	chr7:4080712-4080713	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572224212	chr7:4080739-4080740	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs10259751	chr7:4080757-4080758	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs577384369	chr7:4080791-4080792	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141046771	chr7:4080812-4080813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34426623	chr7:4080821-4080822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73300972	chr7:4080875-4080876	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10259896	chr7:4080902-4080903	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370220756	chr7:4080918-4080919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539242864	chr7:4080920-4080921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386409399	chr7:4080921-4080922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58871072	chr7:4080934-4080935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202102064	chr7:4080936-4080937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112502069	chr7:4080960-4080961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73300975	chr7:4080961-4080962	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570237704	chr7:4080965-4080966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532818206	chr7:4080967-4080968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552365673	chr7:4080990-4080991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73300977	chr7:4081000-4081001	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576125787	chr7:4081014-4081015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188154522	chr7:4081037-4081038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554943207	chr7:4081048-4081049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191787413	chr7:4081061-4081062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183621985	chr7:4081083-4081084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12155078	chr7:4081125-4081126	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147932770	chr7:4081177-4081178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546309116	chr7:4081189-4081190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12155314	chr7:4081194-4081195	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs188337145	chr7:4081205-4081206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12155028	chr7:4081219-4081220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561848460	chr7:4081221-4081222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12155317	chr7:4081250-4081251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs373596932	chr7:4081264-4081265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543811620	chr7:4081266-4081267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563699608	chr7:4081267-4081268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552836238	chr7:4081280-4081281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75558718	chr7:4081369-4081370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181868388	chr7:4081384-4081385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79124675	chr7:4081398-4081399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75512225	chr7:4081400-4081401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185701677	chr7:4081405-4081406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150335807	chr7:4081448-4081449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371671828	chr7:4081457-4081458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537698961	chr7:4081468-4081469	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:49 , 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	chr7:4061400-4080800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:4066800-4082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:4066800-4087200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:4066800-4091200	Weak transcription	Pancreas	Pancrea
6	chr7:4077800-4087800	Weak transcription	Spleen	Spleen
7	chr7:4078000-4091200	Weak transcription	Aorta	Aorta
8	chr7:4078400-4081200	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:4079600-4080800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:4079600-4081400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:4079600-4083800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:4080200-4080600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:4080200-4081200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:4080200-4081600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:4080200-4082000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:4080200-4083800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:4080200-4083800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:4080200-4083800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:4080400-4080600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:4080400-4080800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:4080400-4080800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:4080600-4081200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:4080600-4084000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:4080800-4081400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:4080800-4082200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:4080800-4083200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:4081200-4081400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:4081200-4081400	Enhancers	Fetal Muscle Leg	muscle
29	chr7:4081400-4081800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:4081400-4082200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:4081400-4082200	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:4081400-4082600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:4081600-4082000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:4081800-4082600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:4082000-4082400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:4082000-4082400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:4082000-4082400	Enhancers	Fetal Muscle Trunk	muscle
38	chr7:4082000-4083400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr7:4082000-4084000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:4082200-4082400	Enhancers	NH-A	brain
41	chr7:4082200-4082800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:4082200-4082800	Enhancers	Esophagus	oesophagus
43	chr7:4082200-4082800	Enhancers	Fetal Muscle Leg	muscle
44	chr7:4082200-4083400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:4082200-4083600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:4082400-4089800	Weak transcription	Fetal Stomach	stomach
47	chr7:4082400-4091200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:4082600-4084000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:4082800-4097000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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