Variant report

Variant	nsv1029730
Chromosome Location	chr7:145125332-145253704
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:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:145152342..145154668-chr7:145163522..145165930,2	K562	blood:
2	chr7:145164333..145166039-chr7:145187783..145190029,2	K562	blood:
3	chr7:145132695..145134284-chr7:145149181..145151050,2	K562	blood:
4	chr7:145207787..145209952-chr7:145212993..145214952,2	K562	blood:
5	chr7:145158763..145160358-chr7:145164525..145166463,2	K562	blood:
6	chr7:145164333..145166039-chr7:145187783..145190029,2	K562	blood:
7	chr12:54363693..54365297-chr7:145185991..145188976,2	MCF-7	breast:
8	chr7:145238372..145239192-chrX:32945954..32946528,2	MCF-7	breast:
9	chr7:145151878..145154218-chr7:145156730..145158665,2	K562	blood:
10	chr7:145207787..145209952-chr7:145212993..145214952,2	K562	blood:
11	chr7:145151878..145154218-chr7:145156730..145158665,2	K562	blood:
12	chr7:145132695..145134284-chr7:145149181..145151050,2	K562	blood:
13	chr7:145148269..145150358-chr7:145165598..145168422,2	K562	blood:
14	chr7:145117531..145119456-chr7:145131833..145134247,2	K562	blood:
15	chr7:145219074..145221037-chr7:145221655..145223287,2	K562	blood:
16	chr7:145161705..145165268-chr7:145166298..145169955,3	K562	blood:
17	chr7:145152342..145154668-chr7:145163522..145165930,2	K562	blood:
18	chr7:145161705..145165268-chr7:145166298..145169955,3	K562	blood:
19	chr7:145148269..145150358-chr7:145165598..145168422,2	K562	blood:
20	chr7:145219074..145221037-chr7:145221655..145223287,2	K562	blood:
21	chr7:145158763..145160358-chr7:145164525..145166463,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTNAP2-6	chr7:145243099-145243518	expReg_chr7_11777_+
2	lnc-CNTNAP2-7	chr7:145177093-145178871	expReg_chr7_11752_+

No data

Extended variants
information (count: 778 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:778 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147518667	chr7:145126203-145126204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74670334	chr7:145126297-145126298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574039284	chr7:145126306-145126307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561549658	chr7:145126344-145126345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541273786	chr7:145126369-145126370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11772811	chr7:145126379-145126380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140110070	chr7:145126387-145126388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551718290	chr7:145126402-145126403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563534448	chr7:145126415-145126416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377720543	chr7:145126427-145126428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544213343	chr7:145126441-145126442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149681164	chr7:145126522-145126523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370170253	chr7:145126573-145126574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144501667	chr7:145126586-145126587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs850401	chr7:145126603-145126604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562791482	chr7:145126733-145126734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148400926	chr7:145126748-145126749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533025953	chr7:145126756-145126757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551611678	chr7:145126760-145126761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541931492	chr7:145130029-145130030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553545307	chr7:145130043-145130044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573477011	chr7:145130091-145130092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60034130	chr7:145130132-145130133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139330692	chr7:145130133-145130134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532835679	chr7:145130140-145130141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143290074	chr7:145130165-145130166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147115686	chr7:145130203-145130204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138446331	chr7:145130235-145130236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555195702	chr7:145130354-145130355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548673851	chr7:145130358-145130359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576747873	chr7:145130359-145130360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184185266	chr7:145130426-145130427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551943564	chr7:145130528-145130529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141969052	chr7:145130585-145130586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538124335	chr7:145130598-145130599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370855923	chr7:145130623-145130624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188166267	chr7:145130653-145130654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564559402	chr7:145130718-145130719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532082962	chr7:145130719-145130720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535058813	chr7:145130756-145130757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560419139	chr7:145130842-145130843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs850398	chr7:145130880-145130881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs376424125	chr7:145130890-145130891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191482857	chr7:145130891-145130892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150744534	chr7:145130915-145130916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577485010	chr7:145130930-145130931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544903870	chr7:145130941-145130942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562997984	chr7:145130961-145130962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183903507	chr7:145130962-145130963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12532228	chr7:145130968-145130969	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145126200-145126600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:145126200-145126800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:145130000-145131200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:145130200-145130400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr7:145131200-145133600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:145143400-145143800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:145160000-145160400	Enhancers	Pancreas	Pancrea
8	chr7:145160400-145166400	Weak transcription	Pancreas	Pancrea
9	chr7:145166400-145166800	ZNF genes & repeats	Pancreas	Pancrea
10	chr7:145168400-145169000	Enhancers	Fetal Kidney	kidney
11	chr7:145169000-145171000	Weak transcription	Fetal Kidney	kidney
12	chr7:145170800-145171200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:145171000-145171200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:145171000-145171800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:145171000-145171800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:145171000-145171800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:145171000-145171800	Enhancers	Fetal Kidney	kidney
18	chr7:145171200-145171800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:145171200-145172000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:145171400-145172000	Enhancers	Fetal Lung	lung
21	chr7:145171800-145172000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:145175800-145176000	Enhancers	Gastric	stomach
23	chr7:145194800-145195400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:145194800-145195400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:145216600-145218400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:145217000-145217600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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