Variant report

Variant	esv3419590
Chromosome Location	chr7:4079826-4084024
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: 234 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556433034	chr7:4079834-4079835	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528981087	chr7:4079842-4079843	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576335592	chr7:4079851-4079852	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80285963	chr7:4079910-4079911	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74428814	chr7:4079913-4079914	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144726310	chr7:4079939-4079940	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117463376	chr7:4079946-4079947	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4526263	chr7:4079956-4079957	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561451077	chr7:4079964-4079965	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79412485	chr7:4079985-4079986	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549952894	chr7:4079986-4079987	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148516002	chr7:4080014-4080015	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368699957	chr7:4080033-4080034	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532490409	chr7:4080037-4080038	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112233724	chr7:4080049-4080050	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77775006	chr7:4080080-4080081	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534616833	chr7:4080090-4080091	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547847271	chr7:4080091-4080092	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200193288	chr7:4080094-4080095	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77619534	chr7:4080097-4080098	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60562202	chr7:4080102-4080103	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556756235	chr7:4080116-4080117	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576223439	chr7:4080168-4080169	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536994162	chr7:4080174-4080175	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538972571	chr7:4080191-4080192	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76845125	chr7:4080193-4080194	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77405392	chr7:4080199-4080200	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541439564	chr7:4080212-4080213	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs561082094	chr7:4080219-4080220	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs373069591	chr7:4080241-4080242	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs543543634	chr7:4080243-4080244	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs77302141	chr7:4080337-4080338	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs535535282	chr7:4080339-4080340	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs75078169	chr7:4080383-4080384	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552366312	chr7:4080394-4080395	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs559705035	chr7:4080395-4080396	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs142782900	chr7:4080406-4080407	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs367652100	chr7:4080421-4080422	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548175885	chr7:4080438-4080439	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs73300963	chr7:4080446-4080447	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530675856	chr7:4080451-4080452	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs147659007	chr7:4080476-4080477	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs73300967	chr7:4080497-4080498	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538864446	chr7:4080499-4080500	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs558701138	chr7:4080511-4080512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs566037451	chr7:4080600-4080601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7803897	chr7:4080629-4080630	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184847086	chr7:4080632-4080633	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113483597	chr7:4080664-4080665	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs543924674	chr7:4080675-4080676	Enhancers Weak transcription Flanking Active TSS	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:67 , 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	chr7:4066800-4082000	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	chr7:4079000-4080000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:4079200-4080000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:4079200-4080200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:4079200-4080200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:4079600-4080000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:4079600-4080200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr7:4079600-4080800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr7:4079600-4081400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:4079600-4083800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:4079800-4080200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr7:4079800-4080200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr7:4079800-4080200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:4079800-4080400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr7:4079800-4080400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:4080000-4080200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr7:4080000-4080400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr7:4080200-4080600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:4080200-4081200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:4080200-4081600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr7:4080200-4082000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:4080200-4083800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:4080200-4083800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:4080200-4083800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:4080400-4080600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
33	chr7:4080400-4080800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:4080400-4080800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:4080600-4081200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:4080600-4084000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr7:4080800-4081400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:4080800-4082200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:4080800-4083200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:4081200-4081400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:4081200-4081400	Enhancers	Fetal Muscle Leg	muscle
42	chr7:4081400-4081800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:4081400-4082200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:4081400-4082200	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:4081400-4082600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:4081600-4082000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:4081800-4082600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:4082000-4082400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:4082000-4082400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:4082000-4082400	Enhancers	Fetal Muscle Trunk	muscle

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