Variant report

Variant	nsv508480
Chromosome Location	chr7:126034101-126058203
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	chr7:126028745..126031381-chr7:126035464..126037060,2	K562	blood:
2	chr7:126028745..126031381-chr7:126035464..126038065,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-4	chr7:126055283-126055392	XLOC_006236

Extended variants
information (count: 211 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548964644	chr7:126038435-126038436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567365856	chr7:126038574-126038575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189168169	chr7:126038581-126038582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550226811	chr7:126038589-126038590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571774860	chr7:126038678-126038679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111452009	chr7:126038745-126038746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554370436	chr7:126038778-126038779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111545653	chr7:126038807-126038808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35944675	chr7:126038855-126038856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560094543	chr7:126038886-126038887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557838489	chr7:126038926-126038927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193081292	chr7:126038951-126038952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541330673	chr7:126038982-126038983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73720982	chr7:126038992-126038993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573584039	chr7:126039004-126039005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146144399	chr7:126039026-126039027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367641381	chr7:126039041-126039042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185470038	chr7:126039047-126039048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73439291	chr7:126039056-126039057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544808499	chr7:126039057-126039058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78676175	chr7:126039110-126039111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527772817	chr7:126039118-126039119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189931701	chr7:126039141-126039142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561316506	chr7:126039209-126039210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140169941	chr7:126039225-126039226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572430814	chr7:126039475-126039476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142421882	chr7:126039501-126039502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181455576	chr7:126039578-126039579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185597179	chr7:126039612-126039613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151297579	chr7:126039624-126039625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188299821	chr7:126039670-126039671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180710850	chr7:126039677-126039678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542909649	chr7:126039760-126039761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185287038	chr7:126039768-126039769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139117559	chr7:126039780-126039781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547273938	chr7:126040872-126040873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554610881	chr7:126040891-126040892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17661131	chr7:126040897-126040898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576392960	chr7:126040915-126040916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577330937	chr7:126040917-126040918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528006770	chr7:126040964-126040965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543146842	chr7:126040991-126040992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561122216	chr7:126041001-126041002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576030319	chr7:126041004-126041005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544650917	chr7:126041010-126041011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141431983	chr7:126041030-126041031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4731312	chr7:126041074-126041075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542055123	chr7:126041083-126041084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562847674	chr7:126041093-126041094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531293145	chr7:126041094-126041095	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126038400-126039400	Enhancers	HSMMtube	muscle
2	chr7:126038800-126039600	Enhancers	Fetal Heart	heart
3	chr7:126039000-126039800	Enhancers	GM12878-XiMat	blood
4	chr7:126040800-126041600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:126041600-126042800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:126042800-126043600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:126050200-126050400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:126051000-126051600	Active TSS	A549	lung
9	chr7:126051200-126051600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:126051200-126051600	Active TSS	Duodenum Mucosa	Duodenum
11	chr7:126051200-126051800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:126051400-126051600	Active TSS	GM12878-XiMat	blood
13	chr7:126051400-126051600	Enhancers	Hela-S3	cervix
14	chr7:126051400-126052000	Active TSS	Brain Angular Gyrus	brain
15	chr7:126051600-126052000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:126051600-126052200	Flanking Active TSS	GM12878-XiMat	blood
17	chr7:126052200-126052400	Enhancers	GM12878-XiMat	blood
18	chr7:126055600-126056000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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