Variant report

Variant	nsv888668
Chromosome Location	chr7:85303815-85361787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:85308217..85310976-chr7:85319163..85322845,3	K562	blood:
2	chr7:85308217..85310976-chr7:85319163..85322845,3	K562	blood:
3	chr7:85315775..85319352-chr7:85321463..85324593,3	K562	blood:
4	chr7:85324970..85325867-chr9:91930662..91931441,2	HCT-116	colon:
5	chr7:85315775..85319352-chr7:85321463..85324593,3	K562	blood:

Extended variants
information (count: 1459 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1459 , 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	rs4260825	chr7:85308417-85308418	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534172043	chr7:85308473-85308474	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs190189293	chr7:85308474-85308475	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528070638	chr7:85308479-85308480	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs4407797	chr7:85308496-85308497	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571312832	chr7:85308546-85308547	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538405220	chr7:85308573-85308574	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs77473639	chr7:85308589-85308590	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs145470503	chr7:85308590-85308591	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs114701401	chr7:85308601-85308602	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs11973851	chr7:85308621-85308622	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182055110	chr7:85308638-85308639	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs145379253	chr7:85308654-85308655	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs35082375	chr7:85308670-85308671	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577264686	chr7:85308690-85308691	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs11973837	chr7:85308729-85308730	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557683447	chr7:85308731-85308732	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs115663173	chr7:85308759-85308760	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112703216	chr7:85308768-85308769	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs575372485	chr7:85308773-85308774	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs10239771	chr7:85308787-85308788	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561152309	chr7:85308798-85308799	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185952164	chr7:85308807-85308808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546617854	chr7:85308859-85308860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs564732501	chr7:85308920-85308921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs368765297	chr7:85308931-85308932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs557822248	chr7:85308932-85308933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs190565831	chr7:85308934-85308935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs10239701	chr7:85308937-85308938	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182848240	chr7:85308947-85308948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555768980	chr7:85308956-85308957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs539943784	chr7:85308967-85308968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs566813647	chr7:85308998-85308999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs140684484	chr7:85309008-85309009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs558863947	chr7:85309043-85309044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs10255491	chr7:85309118-85309119	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538311189	chr7:85309119-85309120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112021295	chr7:85309124-85309125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs570041339	chr7:85309144-85309145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs574911654	chr7:85309158-85309159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs542837287	chr7:85309181-85309182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs561115852	chr7:85309185-85309186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs188385662	chr7:85310634-85310635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547844140	chr7:85310636-85310637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148682211	chr7:85310646-85310647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142239935	chr7:85310648-85310649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372064830	chr7:85310673-85310674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551371299	chr7:85310676-85310677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373614358	chr7:85310694-85310695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114377575	chr7:85310719-85310720	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85308400-85308800	Active TSS	Spleen	Spleen
2	chr7:85308400-85309200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:85310600-85311000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:85310800-85311000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:85311000-85312200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:85312000-85312600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:85312000-85312600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:85312200-85312400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:85312200-85312600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:85312200-85312600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:85313400-85313600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr7:85313600-85316200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:85316200-85316800	Weak transcription	Pancreas	Pancrea
14	chr7:85316200-85317000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:85316200-85317200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr7:85318200-85318600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:85322800-85323000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:85323200-85324400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:85323400-85323600	Enhancers	A549	lung
20	chr7:85323600-85324000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:85323600-85324600	Weak transcription	A549	lung
22	chr7:85324000-85324400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:85324400-85325400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:85324400-85327600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:85324600-85325600	Flanking Active TSS	A549	lung
26	chr7:85324600-85326400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:85324600-85327600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:85324600-85327600	Enhancers	NHEK	skin
29	chr7:85324800-85325400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:85324800-85325400	Enhancers	Hela-S3	cervix
31	chr7:85324800-85327400	Enhancers	HMEC	breast
32	chr7:85325000-85325400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr7:85325400-85327800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:85325600-85326800	Enhancers	A549	lung
35	chr7:85326400-85327400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:85326800-85328200	Weak transcription	A549	lung
37	chr7:85327400-85327600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:85327600-85328200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:85327600-85328600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:85327800-85328800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:85328200-85329200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:85328600-85328800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:85328600-85328800	Enhancers	A549	lung
44	chr7:85328800-85334600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:85331000-85332000	Enhancers	Fetal Lung	lung
46	chr7:85332000-85333000	Weak transcription	Fetal Lung	lung
47	chr7:85333000-85333400	Enhancers	Fetal Lung	lung
48	chr7:85334600-85334800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:85337400-85338200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr7:85338200-85341000	Weak transcription	Monocytes-CD14+_RO01746	blood

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