Variant report

Variant	nsv888611
Chromosome Location	chr7:83318875-83415942
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	chr5:42182671..42183209-chr7:83415074..83415902,2	MCF-7	breast:
2	chr7:83315115..83317340-chr7:83318179..83320541,2	MCF-7	breast:

Extended variants
information (count: 1485 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1485 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10485855	chr7:83318875-83318876	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184502574	chr7:83318894-83318895	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs558619989	chr7:83318899-83318900	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs540951183	chr7:83318904-83318905	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs560731652	chr7:83318913-83318914	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559406914	chr7:83319052-83319053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543184613	chr7:83319055-83319056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75079427	chr7:83319097-83319098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528245792	chr7:83319142-83319143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376023571	chr7:83319158-83319159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548011788	chr7:83319171-83319172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551541712	chr7:83319182-83319183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370597547	chr7:83319201-83319202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564938419	chr7:83319207-83319208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111662179	chr7:83319240-83319241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527648556	chr7:83319264-83319265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190238205	chr7:83319318-83319319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181951083	chr7:83319329-83319330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561433073	chr7:83319367-83319368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567203864	chr7:83319372-83319373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530564190	chr7:83319386-83319387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536091652	chr7:83319390-83319391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549938703	chr7:83319417-83319418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1149210	chr7:83319507-83319508	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368441160	chr7:83319600-83319601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538730913	chr7:83319619-83319620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13226162	chr7:83319623-83319624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374263174	chr7:83319650-83319651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377260324	chr7:83319722-83319723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558342994	chr7:83319740-83319741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17157968	chr7:83319772-83319773	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534583078	chr7:83319784-83319785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17157970	chr7:83319824-83319825	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577603290	chr7:83319876-83319877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574381008	chr7:83319904-83319905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148028661	chr7:83319936-83319937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563106084	chr7:83319960-83319961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374682859	chr7:83319968-83319969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552808238	chr7:83319974-83319975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367649921	chr7:83320048-83320049	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs554496527	chr7:83320117-83320118	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs140848689	chr7:83320128-83320129	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566403693	chr7:83320138-83320139	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs565024432	chr7:83320141-83320142	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs535215014	chr7:83320154-83320155	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs150157596	chr7:83320182-83320183	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs547385082	chr7:83320236-83320237	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560890180	chr7:83320249-83320250	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138769996	chr7:83320327-83320328	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555240924	chr7:83320417-83320418	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83314400-83320000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:83314800-83320200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:83315400-83319200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:83315600-83319400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:83316800-83319000	Weak transcription	Fetal Lung	lung
6	chr7:83317400-83319200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:83318400-83319000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:83318400-83321200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:83318400-83323000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:83318600-83320200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:83318600-83321200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:83318800-83320000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:83319000-83319200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:83319000-83319600	Enhancers	Fetal Lung	lung
15	chr7:83319000-83321200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:83319200-83319400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:83319200-83320200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:83319200-83320800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr7:83319200-83321600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:83319200-83325600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:83319400-83319600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:83319400-83320200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:83319600-83320000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:83319600-83331600	Weak transcription	Fetal Lung	lung
25	chr7:83320000-83320800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr7:83320000-83320800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:83320000-83321000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr7:83320200-83320600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:83320200-83320800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:83320200-83321000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr7:83320200-83321000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr7:83320200-83321000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr7:83320200-83321200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:83320400-83320800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:83320600-83322200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:83320800-83321800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:83320800-83322200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:83320800-83322400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:83321000-83321800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr7:83321000-83322000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:83321000-83322200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:83321000-83322600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:83321200-83321600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:83321200-83321600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:83321200-83324200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:83321200-83324600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:83321600-83322600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:83321600-83323200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:83321600-83323800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:83321800-83323000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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