Variant report

Variant	nsv1018500
Chromosome Location	chr7:119310497-119532489
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:115)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:115 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:119464670..119466870-chr7:119472485..119474183,2	K562	blood:
2	chr7:119477848..119480157-chr7:119533640..119535341,2	K562	blood:
3	chr7:119346390..119349043-chr7:119407382..119409874,2	K562	blood:
4	chr7:119481189..119482862-chr7:119504225..119505878,2	K562	blood:
5	chr7:119368480..119370359-chr7:119372677..119374451,2	K562	blood:
6	chr7:119420029..119422229-chr7:119424729..119426648,2	K562	blood:
7	chr7:119414314..119416658-chr7:119545781..119548127,2	K562	blood:
8	chr19:36605122..36607888-chr7:119364197..119366657,2	MCF-7	breast:
9	chr7:119348460..119350527-chr7:119352829..119355249,2	K562	blood:
10	chr7:119325886..119327423-chr7:119329257..119332197,2	K562	blood:
11	chr7:119360284..119363279-chr7:119373457..119376079,2	K562	blood:
12	chr7:119413236..119417031-chr7:119417738..119421768,6	K562	blood:
13	chr7:119436312..119439377-chr7:119443726..119446740,3	K562	blood:
14	chr7:119510525..119513313-chr7:119545335..119546843,2	K562	blood:
15	chr7:119528303..119529981-chr7:119532634..119534210,2	K562	blood:
16	chr7:119510969..119512779-chr7:119515094..119517064,2	K562	blood:
17	chr7:119452460..119454329-chr7:119545907..119547422,2	K562	blood:
18	chr7:119426451..119428597-chr7:119430107..119432246,2	K562	blood:
19	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
20	chr7:119511194..119513890-chr7:119518810..119520879,2	K562	blood:
21	chr7:119505448..119507945-chr7:119512222..119515197,2	K562	blood:
22	chr7:119473939..119476344-chr7:119479412..119481119,2	K562	blood:
23	chr7:119532435..119536395-chr7:119545462..119547437,5	K562	blood:
24	chr7:119529652..119531216-chr7:119540900..119542894,2	K562	blood:
25	chr7:119410529..119413456-chr7:119422041..119425141,3	K562	blood:
26	chr7:119397490..119400025-chr7:119421872..119424720,2	MCF-7	breast:
27	chr7:119420199..119422229-chr7:119425148..119427831,2	K562	blood:
28	chr7:119442907..119445204-chr7:119453578..119455616,2	K562	blood:
29	chr7:119481189..119482862-chr7:119504225..119505878,2	K562	blood:
30	chr7:119440126..119441643-chr7:119447031..119450009,2	K562	blood:
31	chr7:119356426..119358294-chr7:119362114..119365311,3	K562	blood:
32	chr7:119422555..119424212-chr7:119427757..119430145,2	K562	blood:
33	chr7:119383539..119386290-chr7:119392991..119394503,2	K562	blood:
34	chr7:119360959..119363712-chr7:119366753..119368692,2	K562	blood:
35	chr7:119505448..119507945-chr7:119512222..119515197,2	K562	blood:
36	chr7:119531336..119533343-chr7:119587590..119589885,2	K562	blood:
37	chr7:119513975..119516683-chr7:119520911..119522869,2	K562	blood:
38	chr7:119453532..119455382-chr7:119462592..119465217,2	K562	blood:
39	chr7:119397490..119400025-chr7:119421872..119424720,2	MCF-7	breast:
40	chr7:119422555..119424148-chr7:119427385..119429257,2	K562	blood:
41	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:
42	chr7:119513975..119516683-chr7:119520911..119522869,2	K562	blood:
43	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
44	chr7:119420029..119422229-chr7:119424729..119426648,2	K562	blood:
45	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:
46	chr7:119408202..119409750-chr7:119409933..119412842,2	K562	blood:
47	chr7:119431310..119433574-chr7:119434033..119435844,2	K562	blood:
48	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
49	chr7:119410172..119412912-chr7:119413971..119417842,3	K562	blood:
50	chr7:119482560..119485334-chr7:119486434..119488140,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN12-4	chr7:119440870-119440928	XLOC_006580
2	lnc-KCND2-2	chr7:119344514-119347011	NONHSAT122985
3	lnc-KCND2-2	chr7:119348262-119348369	NONHSAT122985
4	lnc-TSPAN12-4	chr7:119422338-119422411	XLOC_006580
5	lnc-TSPAN12-4	chr7:119344610-119345026	XLOC_006580
6	lnc-TSPAN12-4	chr7:119390869-119392229	XLOC_006580
7	lnc-TSPAN12-8	chr7:119322820-119322866	NONHSAT122984
8	lnc-TSPAN12-8	chr7:119321046-119322265	NONHSAT122984
9	lnc-TSPAN12-4	chr7:119440870-119440928	XLOC_006580

No data

Variant related genes	Relation type
ENSG00000105258	chromatin interactions
ENSG00000225546	chromatin interactions
ENSG00000105254	chromatin interactions
PDE12	miRNA target sites
HOXC8	miRNA target sites

Extended variants
information (count: 7333 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:7333 , 50 per page) page: 1 2 3 4 5 6 7 ... 147

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111771795	chr7:119311004-119311005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182222649	chr7:119311015-119311016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557155524	chr7:119311032-119311033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186870313	chr7:119311072-119311073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543159471	chr7:119311104-119311105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138961348	chr7:119311141-119311142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553375179	chr7:119311146-119311147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12534787	chr7:119311148-119311149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545336102	chr7:119311181-119311182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565612481	chr7:119311221-119311222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191754270	chr7:119311223-119311224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538861256	chr7:119311243-119311244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185068387	chr7:119311259-119311260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563026920	chr7:119311267-119311268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75429863	chr7:119311268-119311269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188590328	chr7:119311269-119311270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565288434	chr7:119311275-119311276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537768311	chr7:119311306-119311307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73211862	chr7:119311324-119311325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147269556	chr7:119311328-119311329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4730929	chr7:119311338-119311339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192980679	chr7:119311385-119311386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555452937	chr7:119311394-119311395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80000025	chr7:119311458-119311459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140638701	chr7:119311478-119311479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557086280	chr7:119311500-119311501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574454417	chr7:119311512-119311513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145808254	chr7:119311530-119311531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138458649	chr7:119311568-119311569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369600304	chr7:119311590-119311591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185663404	chr7:119311608-119311609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573265165	chr7:119311609-119311610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73485196	chr7:119311623-119311624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558963435	chr7:119311634-119311635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112556334	chr7:119311718-119311719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112645765	chr7:119311761-119311762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10267001	chr7:119311795-119311796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561114813	chr7:119311861-119311862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557986945	chr7:119311914-119311915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75410812	chr7:119311962-119311963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543751502	chr7:119312007-119312008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74491861	chr7:119312066-119312067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189470615	chr7:119312071-119312072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551392967	chr7:119312084-119312085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564744001	chr7:119312085-119312086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10251920	chr7:119312100-119312101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550898813	chr7:119312160-119312161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112470448	chr7:119312202-119312203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73211863	chr7:119312241-119312242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs180700040	chr7:119312253-119312254	Weak transcription	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
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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119311000-119326000	Weak transcription	K562	blood
2	chr7:119324200-119325600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:119324200-119326200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:119325200-119325800	Enhancers	Osteobl	bone
5	chr7:119325400-119326200	Enhancers	Fetal Brain Female	brain
6	chr7:119326000-119326200	Enhancers	Fetal Lung	lung
7	chr7:119326000-119326600	Enhancers	K562	blood
8	chr7:119328400-119329600	Enhancers	Fetal Lung	lung
9	chr7:119341000-119341200	Weak transcription	K562	blood
10	chr7:119341400-119341800	ZNF genes & repeats	K562	blood
11	chr7:119345800-119346800	ZNF genes & repeats	K562	blood
12	chr7:119345800-119347000	Enhancers	Dnd41	blood
13	chr7:119346200-119347000	Enhancers	Fetal Heart	heart
14	chr7:119346400-119346800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:119346400-119346800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:119346800-119347200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:119346800-119348800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:119346800-119364200	Weak transcription	K562	blood
19	chr7:119347200-119347400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:119347400-119348600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:119348800-119349400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:119349000-119349200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:119351000-119351600	Active TSS	GM12878-XiMat	blood
24	chr7:119359000-119360600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:119359400-119362000	Enhancers	HUVEC	blood vessel
26	chr7:119360200-119360600	Enhancers	NHDF-Ad	bronchial
27	chr7:119360200-119361400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:119360200-119362400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:119360400-119361400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:119360400-119361600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:119360600-119362000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:119362000-119362600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:119364200-119364800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:119364200-119364800	Enhancers	K562	blood
35	chr7:119364800-119416000	Weak transcription	K562	blood
36	chr7:119366200-119367600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:119367600-119368000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:119368000-119374400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:119372800-119374400	Enhancers	HMEC	breast
40	chr7:119373000-119373600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:119373000-119373600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:119373000-119373800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:119373000-119374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr7:119373000-119374200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:119373000-119374200	Enhancers	NHEK	skin
46	chr7:119373600-119374000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:119374000-119374400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:119374400-119374600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:119382600-119384200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:119382800-119383400	Enhancers	Muscle Satellite Cultured Cells	--

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