Variant report

Variant	nsv1034270
Chromosome Location	chr7:84068277-84101774
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	chr7:83818053..83818798-chr7:84083869..84084417,2	MCF-7	breast:

Extended variants
information (count: 1225 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6947640	chr7:84068277-84068278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557026259	chr7:84068301-84068302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575335753	chr7:84068348-84068349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183644200	chr7:84068361-84068362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560831748	chr7:84068431-84068432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73386981	chr7:84068454-84068455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574703785	chr7:84068465-84068466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142910632	chr7:84068487-84068488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75225247	chr7:84068490-84068491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543278309	chr7:84068521-84068522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75205583	chr7:84068534-84068535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545924404	chr7:84068550-84068551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562519767	chr7:84068558-84068559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370308292	chr7:84068578-84068579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369638575	chr7:84068582-84068583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562413204	chr7:84068627-84068628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548776735	chr7:84068661-84068662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530055758	chr7:84068687-84068688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151098267	chr7:84068724-84068725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566899275	chr7:84068734-84068735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1228948	chr7:84068755-84068756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs1228949	chr7:84068778-84068779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571036738	chr7:84068815-84068816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190281796	chr7:84068877-84068878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556914161	chr7:84068904-84068905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575039474	chr7:84068955-84068956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535875862	chr7:84068989-84068990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527979480	chr7:84068990-84068991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4732552	chr7:84069054-84069055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371606901	chr7:84069065-84069066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2715044	chr7:84069119-84069120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1228950	chr7:84069128-84069129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113641045	chr7:84069152-84069153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576648445	chr7:84069157-84069158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543968683	chr7:84069180-84069181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541343473	chr7:84069182-84069183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561219509	chr7:84069213-84069214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1922350	chr7:84069225-84069226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529999016	chr7:84069229-84069230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182458595	chr7:84069232-84069233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376657179	chr7:84069269-84069270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527812228	chr7:84069281-84069282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374846511	chr7:84069319-84069320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570926321	chr7:84069348-84069349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566819651	chr7:84069394-84069395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368853955	chr7:84069399-84069400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531954557	chr7:84069404-84069405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369000730	chr7:84069437-84069438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200276122	chr7:84069451-84069452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536134476	chr7:84069478-84069479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84062000-84069400	Weak transcription	NHDF-Ad	bronchial
2	chr7:84068200-84076400	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:84069400-84069600	Enhancers	NHDF-Ad	bronchial
4	chr7:84069600-84070000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:84072600-84076000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:84072800-84073200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:84076000-84077400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:84076400-84076600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:84076400-84077400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
10	chr7:84076400-84077400	ZNF genes & repeats	Fetal Muscle Leg	muscle
11	chr7:84077200-84077400	ZNF genes & repeats	NHDF-Ad	bronchial
12	chr7:84077400-84077600	ZNF genes & repeats	Spleen	Spleen
13	chr7:84077400-84077800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:84077400-84079600	Weak transcription	NHDF-Ad	bronchial
15	chr7:84079600-84080000	ZNF genes & repeats	NHDF-Ad	bronchial
16	chr7:84079800-84081000	Enhancers	A549	lung
17	chr7:84080000-84081600	Weak transcription	NHDF-Ad	bronchial
18	chr7:84081600-84082200	Enhancers	NHDF-Ad	bronchial
19	chr7:84081600-84082400	Enhancers	HepG2	liver
20	chr7:84082200-84084800	Weak transcription	NHDF-Ad	bronchial
21	chr7:84083200-84083800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:84083200-84084000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:84083400-84083800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:84083400-84083800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:84083400-84084000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:84083600-84083800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:84083600-84084000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:84083600-84084000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:84083800-84084800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:84084800-84085200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:84084800-84085400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:84084800-84085400	Enhancers	NHDF-Ad	bronchial
33	chr7:84085400-84093600	Weak transcription	NHDF-Ad	bronchial
34	chr7:84090000-84091200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:84090400-84090600	Enhancers	Fetal Brain Female	brain
36	chr7:84090600-84091200	Weak transcription	Fetal Brain Female	brain
37	chr7:84091000-84092000	Enhancers	Fetal Brain Male	brain
38	chr7:84091200-84092000	Enhancers	Fetal Brain Female	brain
39	chr7:84091600-84092200	Enhancers	Fetal Stomach	stomach
40	chr7:84093600-84096400	Strong transcription	NHDF-Ad	bronchial
41	chr7:84094400-84101600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:84095600-84100000	Weak transcription	Adipose Nuclei	Adipose
43	chr7:84096000-84097600	Weak transcription	Fetal Muscle Leg	muscle
44	chr7:84096400-84098400	Weak transcription	NHDF-Ad	bronchial
45	chr7:84098400-84098800	Enhancers	HUVEC	blood vessel
46	chr7:84098400-84098800	Strong transcription	NHDF-Ad	bronchial
47	chr7:84098400-84099000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr7:84098600-84099000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:84098800-84107000	Weak transcription	NHDF-Ad	bronchial
50	chr7:84100000-84100400	Enhancers	Adipose Nuclei	Adipose

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