Variant report

Variant	nsv967499
Chromosome Location	chr7:136886596-136892139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:136889214..136890885-chr7:136891240..136892885,2	K562	blood:
2	chr7:136872945..136874531-chr7:136887427..136890361,2	MCF-7	breast:
3	chr7:136889214..136890885-chr7:136891240..136892885,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTN-4	chr7:136888720-136888959	NONHSAT123576
2	lnc-PTN-4	chr7:136889380-136889587	NONHSAT123576

Extended variants
information (count: 248 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:248 , 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	rs370477214	chr7:136886803-136886804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576261938	chr7:136886805-136886806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188152431	chr7:136886810-136886811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558252358	chr7:136886815-136886816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192864022	chr7:136886835-136886836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142295905	chr7:136886844-136886845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117350824	chr7:136886929-136886930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184481070	chr7:136886941-136886942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542906516	chr7:136886950-136886951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78376920	chr7:136886954-136886955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77514279	chr7:136886962-136886963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551581888	chr7:136886963-136886964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564616559	chr7:136886968-136886969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527425378	chr7:136886980-136886981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547365396	chr7:136887004-136887005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567103690	chr7:136887059-136887060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550218938	chr7:136887076-136887077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114372661	chr7:136887083-136887084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188145141	chr7:136887084-136887085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569987038	chr7:136887146-136887147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538811334	chr7:136887322-136887323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558824520	chr7:136887339-136887340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368936142	chr7:136887347-136887348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368542087	chr7:136887416-136887417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372265257	chr7:136887490-136887491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181984344	chr7:136887518-136887519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527402013	chr7:136887565-136887566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146380131	chr7:136887621-136887622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573912283	chr7:136887640-136887641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184727915	chr7:136887648-136887649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543024294	chr7:136887660-136887661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189109820	chr7:136887700-136887701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576356078	chr7:136887717-136887718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181727242	chr7:136887786-136887787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186958678	chr7:136887805-136887806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527889303	chr7:136887966-136887967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139363802	chr7:136887969-136887970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73162481	chr7:136888003-136888004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529627887	chr7:136888049-136888050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76215998	chr7:136888072-136888073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569947777	chr7:136888120-136888121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150026663	chr7:136888161-136888162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191297293	chr7:136888163-136888164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368343228	chr7:136888178-136888179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13243562	chr7:136888211-136888212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536744120	chr7:136888242-136888243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149401455	chr7:136888243-136888244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567770895	chr7:136888246-136888247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536231465	chr7:136888256-136888257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556956629	chr7:136888262-136888263	Weak transcription	n/a	n/a	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
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
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
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136886800-136887000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr7:136887000-136897200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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