Variant report

Variant	nsv970769
Chromosome Location	chr7:119582079-119586830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:119564930..119567525-chr7:119586667..119589307,3	K562	blood:
2	chr7:119571307..119574427-chr7:119582065..119585012,4	K562	blood:
3	chr7:119578083..119580196-chr7:119586572..119589192,2	K562	blood:
4	chr7:119541414..119544010-chr7:119583938..119586887,3	K562	blood:
5	chr7:119584419..119586838-chr7:119603002..119604856,2	K562	blood:
6	chr7:119575582..119577165-chr7:119582131..119584732,3	K562	blood:
7	chr7:119570997..119574569-chr7:119582922..119586334,5	K562	blood:
8	chr7:119569917..119573770-chr7:119586780..119589332,3	K562	blood:
9	chr7:119541414..119544010-chr7:119583938..119585593,2	K562	blood:
10	chr7:119546333..119548677-chr7:119583508..119586175,2	K562	blood:
11	chr7:119579726..119581869-chr7:119583415..119586890,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225546	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534164461	chr7:119582147-119582148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553865276	chr7:119582214-119582215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577494815	chr7:119582267-119582268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546515649	chr7:119582390-119582391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112499343	chr7:119582405-119582406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563115323	chr7:119582428-119582429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184207814	chr7:119582497-119582498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571163327	chr7:119582498-119582499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2402513	chr7:119582520-119582521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529996049	chr7:119582555-119582556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544325516	chr7:119582634-119582635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561008492	chr7:119582643-119582644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529670762	chr7:119582645-119582646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546592702	chr7:119582666-119582667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559869002	chr7:119582689-119582690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532315955	chr7:119582704-119582705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552014906	chr7:119582705-119582706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141039153	chr7:119582728-119582729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537623589	chr7:119582804-119582805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548293230	chr7:119582827-119582828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568576301	chr7:119582838-119582839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534014836	chr7:119582914-119582915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187546372	chr7:119582930-119582931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554186360	chr7:119582962-119582963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577158255	chr7:119582963-119582964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191139204	chr7:119583053-119583054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556847055	chr7:119583083-119583084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150278386	chr7:119583120-119583121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567615254	chr7:119583153-119583154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112752432	chr7:119583157-119583158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77259739	chr7:119583168-119583169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555664198	chr7:119583205-119583206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138928986	chr7:119583257-119583258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552666771	chr7:119583275-119583276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560105965	chr7:119583276-119583277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531936679	chr7:119583286-119583287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545715390	chr7:119583333-119583334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140242511	chr7:119583359-119583360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10233545	chr7:119583406-119583407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34613360	chr7:119583422-119583423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs576549527	chr7:119583487-119583488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568158561	chr7:119583489-119583490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527825379	chr7:119583509-119583510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567567468	chr7:119583514-119583515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187030749	chr7:119583558-119583559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs536224001	chr7:119583570-119583571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145197334	chr7:119583616-119583617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs137937280	chr7:119583653-119583654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535884981	chr7:119583666-119583667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556910187	chr7:119583682-119583683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119579800-119584000	Weak transcription	K562	blood
2	chr7:119584000-119584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:119584000-119585000	Flanking Active TSS	K562	blood
4	chr7:119584200-119584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:119585000-119585800	Weak transcription	K562	blood
6	chr7:119585800-119590600	Active TSS	K562	blood

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