Variant report

Variant	nsv523815
Chromosome Location	chr7:4054773-4088876
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	chr7:4046706..4048261-chr7:4069648..4071782,2	MCF-7	breast:
3	chr7:4049042..4050639-chr7:4057886..4059828,2	MCF-7	breast:
4	chr7:4074370..4074950-chr7:4518765..4519624,3	MCF-7	breast:
5	chr7:4067708..4070701-chr7:4072380..4075049,2	MCF-7	breast:
6	chr7:4082285..4084220-chr7:4087738..4090486,2	K562	blood:
7	chr7:4088154..4090375-chr7:4090451..4092964,2	MCF-7	breast:
8	chr7:4067708..4070701-chr7:4072380..4075049,2	MCF-7	breast:

Extended variants
information (count: 1864 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1864 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7793935	chr7:4054773-4054774	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372667591	chr7:4054797-4054798	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs189950294	chr7:4054855-4054856	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs552720018	chr7:4054859-4054860	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs566271778	chr7:4054876-4054877	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs181217137	chr7:4054956-4054957	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs541378518	chr7:4054967-4054968	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs537597597	chr7:4054996-4054997	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs60973449	chr7:4055004-4055005	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs548437999	chr7:4055008-4055009	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs568122649	chr7:4055024-4055025	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs75814272	chr7:4055059-4055060	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs537003210	chr7:4055089-4055090	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs557080920	chr7:4055136-4055137	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs377278143	chr7:4055153-4055154	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs374172121	chr7:4055169-4055170	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs143073512	chr7:4055212-4055213	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs553099249	chr7:4055213-4055214	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs553112645	chr7:4055215-4055216	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs572927811	chr7:4055223-4055224	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs542162707	chr7:4055232-4055233	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs561926498	chr7:4055262-4055263	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs114566143	chr7:4055333-4055334	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs147462845	chr7:4055355-4055356	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs578237622	chr7:4055364-4055365	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs184975600	chr7:4055401-4055402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533021217	chr7:4055436-4055437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546350272	chr7:4055441-4055442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139820901	chr7:4055448-4055449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138208543	chr7:4055477-4055478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528620316	chr7:4055483-4055484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145669583	chr7:4055486-4055487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189782104	chr7:4055495-4055496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115046313	chr7:4055516-4055517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73298949	chr7:4055517-4055518	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs184005109	chr7:4055519-4055520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539947897	chr7:4055526-4055527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553160286	chr7:4055532-4055533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376142704	chr7:4055605-4055606	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs369289193	chr7:4055643-4055644	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs28464787	chr7:4055661-4055662	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs566670019	chr7:4055664-4055665	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs531161706	chr7:4055722-4055723	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs535639914	chr7:4055726-4055727	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs555738413	chr7:4055741-4055742	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs575591848	chr7:4055758-4055759	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs542335493	chr7:4055769-4055770	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs546254026	chr7:4055780-4055781	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs561010402	chr7:4055822-4055823	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs145401550	chr7:4055851-4055852	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4022000-4057800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:4031200-4058400	Weak transcription	Gastric	stomach
3	chr7:4038000-4054800	Weak transcription	Spleen	Spleen
4	chr7:4046200-4055600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:4046600-4055800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:4046800-4056200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:4047000-4056800	Weak transcription	Fetal Intestine Large	intestine
8	chr7:4047000-4058400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:4047200-4055000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:4047200-4057600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:4047600-4058200	Weak transcription	Esophagus	oesophagus
12	chr7:4049000-4058400	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:4050000-4055000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:4050000-4058600	Weak transcription	Right Ventricle	heart
15	chr7:4050000-4059200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:4051200-4065600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:4051400-4055400	Weak transcription	Fetal Intestine Small	intestine
18	chr7:4051600-4058000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:4052000-4058200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:4052000-4061000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:4052200-4055000	Weak transcription	Pancreas	Pancrea
22	chr7:4053000-4055000	Enhancers	HUVEC	blood vessel
23	chr7:4053000-4058200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:4053200-4058200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:4053400-4055000	Enhancers	Fetal Stomach	stomach
26	chr7:4053400-4055000	Enhancers	Lung	lung
27	chr7:4053400-4057800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:4053600-4054800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:4053800-4055000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:4053800-4056400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:4053800-4056800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:4053800-4065800	Weak transcription	Fetal Brain Male	brain
33	chr7:4054000-4055000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:4054000-4055000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:4054200-4057200	Strong transcription	Aorta	Aorta
36	chr7:4054200-4065400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:4054600-4055400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr7:4054600-4056800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:4054600-4056800	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:4054600-4058400	Weak transcription	Fetal Lung	lung
41	chr7:4054800-4055000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:4054800-4055400	Enhancers	Spleen	Spleen
43	chr7:4055000-4055400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:4055000-4055400	Weak transcription	Fetal Stomach	stomach
45	chr7:4055000-4055600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:4055000-4056000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:4055000-4056000	Strong transcription	Pancreas	Pancrea
48	chr7:4055000-4056200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:4055000-4056200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:4055000-4056800	Weak transcription	Lung	lung

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