Variant report

Variant	nsv971561
Chromosome Location	chr7:144969351-145014828
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	chr7:144964574..144966523-chr7:144993925..144996685,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TPK1-3	chr7:145003908-145004318	NONHSAT123942
2	lnc-TPK1-3	chr7:145009135-145009395	NONHSAT123942

Extended variants
information (count: 532 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367672332	chr7:144989002-144989003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574543165	chr7:144989023-144989024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185081959	chr7:144989098-144989099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556767526	chr7:144989122-144989123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371463461	chr7:144989174-144989175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560173527	chr7:144989182-144989183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115527740	chr7:144989243-144989244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116387061	chr7:144989253-144989254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113856600	chr7:144989277-144989278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531267972	chr7:144989301-144989302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114517494	chr7:144989323-144989324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189141071	chr7:144989329-144989330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6951846	chr7:144989362-144989363	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537614801	chr7:144989378-144989379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180952358	chr7:144989431-144989432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs975594	chr7:144989466-144989467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548877161	chr7:144989471-144989472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6952027	chr7:144989472-144989473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs372864659	chr7:144989551-144989552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534198523	chr7:144989583-144989584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577573408	chr7:144989610-144989611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570851113	chr7:144989613-144989614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185382935	chr7:144989684-144989685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189415805	chr7:144989693-144989694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181420053	chr7:144989706-144989707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9640449	chr7:144989737-144989738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138939010	chr7:144989744-144989745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185808886	chr7:144989767-144989768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555708085	chr7:144989782-144989783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563782554	chr7:144989795-144989796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555397770	chr7:144989860-144989861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531205513	chr7:144989871-144989872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543143827	chr7:144989886-144989887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561592474	chr7:144989903-144989904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530336389	chr7:144989956-144989957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548444064	chr7:144990070-144990071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560846938	chr7:144990078-144990079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528032420	chr7:144990080-144990081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190608126	chr7:144990096-144990097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570885552	chr7:144990113-144990114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181266265	chr7:144990125-144990126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550264798	chr7:144990166-144990167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12673814	chr7:144990171-144990172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs535641523	chr7:144990173-144990174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186722467	chr7:144990188-144990189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149439900	chr7:144990195-144990196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144773186	chr7:144990253-144990254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7790233	chr7:144990255-144990256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs577502865	chr7:144990288-144990289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542984756	chr7:144990299-144990300	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:144989000-144992000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:144989400-144992000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:144990000-144991200	Enhancers	Fetal Stomach	stomach
4	chr7:144990000-144991400	Enhancers	Fetal Lung	lung
5	chr7:144990200-144991200	Enhancers	Fetal Muscle Leg	muscle
6	chr7:144990400-144991200	Enhancers	Adipose Nuclei	Adipose
7	chr7:144991400-144998800	Weak transcription	Fetal Lung	lung
8	chr7:145001400-145001600	Enhancers	Fetal Lung	lung
9	chr7:145009600-145011600	Enhancers	Fetal Lung	lung
10	chr7:145010000-145011000	Enhancers	Adipose Nuclei	Adipose
11	chr7:145010600-145011000	Enhancers	Fetal Brain Male	brain
12	chr7:145010600-145011200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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