Variant report

Variant	nsv608323
Chromosome Location	chr7:119363703-119469204
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:62)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:119420199..119422229-chr7:119425148..119427831,2	K562	blood:
2	chr7:119346390..119349043-chr7:119407382..119409874,2	K562	blood:
3	chr19:36605122..36607888-chr7:119364197..119366657,2	MCF-7	breast:
4	chr7:119436312..119439377-chr7:119443726..119446740,3	K562	blood:
5	chr7:119383539..119386290-chr7:119392991..119394503,2	K562	blood:
6	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:
7	chr7:119402295..119404288-chr7:119404943..119407340,2	K562	blood:
8	chr7:119452460..119454329-chr7:119545907..119547422,2	K562	blood:
9	chr7:119383539..119386290-chr7:119392991..119394503,2	K562	blood:
10	chr7:119426451..119428597-chr7:119430107..119432246,2	K562	blood:
11	chr7:119364721..119367176-chr7:119381458..119383230,2	K562	blood:
12	chr7:119408202..119409750-chr7:119409933..119412842,2	K562	blood:
13	chr7:119410529..119413456-chr7:119422041..119425141,3	K562	blood:
14	chr7:119414314..119416658-chr7:119545781..119548127,2	K562	blood:
15	chr7:119402295..119404288-chr7:119404943..119407340,2	K562	blood:
16	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:
17	chr7:119453532..119455382-chr7:119462592..119465217,2	K562	blood:
18	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
19	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:
20	chr7:119440126..119441643-chr7:119447031..119450009,2	K562	blood:
21	chr7:119464670..119466870-chr7:119472485..119474183,2	K562	blood:
22	chr7:119410172..119412912-chr7:119413971..119417842,3	K562	blood:
23	chr7:119413236..119417031-chr7:119417738..119421768,6	K562	blood:
24	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
25	chr7:119364396..119367239-chr7:119368438..119370916,2	K562	blood:
26	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
27	chr7:119360959..119363712-chr7:119366753..119368692,2	K562	blood:
28	chr7:119356426..119358294-chr7:119363548..119365311,2	K562	blood:
29	chr7:119426451..119428597-chr7:119430107..119432246,2	K562	blood:
30	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
31	chr7:119422555..119424212-chr7:119427757..119430145,2	K562	blood:
32	chr7:119436312..119439377-chr7:119443726..119446740,3	K562	blood:
33	chr7:119360959..119363712-chr7:119366753..119368692,2	K562	blood:
34	chr7:119368480..119370359-chr7:119372677..119374451,2	K562	blood:
35	chr7:119422555..119424212-chr7:119427757..119430145,2	K562	blood:
36	chr7:119422555..119424148-chr7:119427385..119429257,2	K562	blood:
37	chr7:119442907..119445204-chr7:119453578..119455616,2	K562	blood:
38	chr7:119420029..119422229-chr7:119424729..119426648,2	K562	blood:
39	chr7:119397490..119400025-chr7:119421872..119424720,2	MCF-7	breast:
40	chr7:119442907..119445204-chr7:119453578..119455616,2	K562	blood:
41	chr7:119442907..119444921-chr7:119453208..119455078,2	K562	blood:
42	chr7:119397490..119400025-chr7:119421872..119424720,2	MCF-7	breast:
43	chr7:119360284..119363279-chr7:119373457..119376079,2	K562	blood:
44	chr7:119422555..119424148-chr7:119427385..119429257,2	K562	blood:
45	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:
46	chr7:119408202..119409750-chr7:119409933..119412842,2	K562	blood:
47	chr7:119410172..119412912-chr7:119413971..119417842,3	K562	blood:
48	chr7:119440126..119441643-chr7:119447031..119450009,2	K562	blood:
49	chr7:119453532..119455382-chr7:119462592..119465217,2	K562	blood:
50	chr7:119420029..119422229-chr7:119424729..119426648,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN12-4	chr7:119390869-119392229	XLOC_006580
2	lnc-TSPAN12-4	chr7:119440870-119440928	XLOC_006580
3	lnc-TSPAN12-4	chr7:119440870-119440928	XLOC_006580
4	lnc-TSPAN12-4	chr7:119422338-119422411	XLOC_006580

No data

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

Extended variants
information (count: 3773 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3773 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9692075	chr7:119363703-119363704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538576730	chr7:119363706-119363707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554855425	chr7:119363739-119363740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575046424	chr7:119363778-119363779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112592715	chr7:119363808-119363809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75463788	chr7:119363865-119363866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144376057	chr7:119363883-119363884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572988447	chr7:119363912-119363913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192798056	chr7:119363927-119363928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113261808	chr7:119363962-119363963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77600290	chr7:119363993-119363994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376506212	chr7:119364056-119364057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80058069	chr7:119364120-119364121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147411291	chr7:119364145-119364146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529814255	chr7:119364222-119364223	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs139746430	chr7:119364234-119364235	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs376459750	chr7:119364257-119364258	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556525034	chr7:119364277-119364278	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs576651773	chr7:119364308-119364309	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs145316384	chr7:119364331-119364332	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs184754336	chr7:119364385-119364386	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552285840	chr7:119364447-119364448	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569275732	chr7:119364455-119364456	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs537861163	chr7:119364521-119364522	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs555254987	chr7:119364541-119364542	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs568791062	chr7:119364549-119364550	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534354254	chr7:119364578-119364579	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs554438656	chr7:119364593-119364594	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572950246	chr7:119364617-119364618	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs561710378	chr7:119364743-119364744	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs545133571	chr7:119364749-119364750	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs151246472	chr7:119364767-119364768	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs140419924	chr7:119364773-119364774	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543888983	chr7:119364804-119364805	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560817399	chr7:119364805-119364806	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs370445545	chr7:119364833-119364834	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs529973260	chr7:119364836-119364837	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572126374	chr7:119364838-119364839	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs187033236	chr7:119364858-119364859	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs532491109	chr7:119364870-119364871	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs75850885	chr7:119364871-119364872	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs541077598	chr7:119364899-119364900	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568609856	chr7:119364912-119364913	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs569255114	chr7:119364932-119364933	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs369481431	chr7:119364936-119364937	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs548617683	chr7:119364940-119364941	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs568754071	chr7:119365078-119365079	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534524198	chr7:119365102-119365103	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs372375773	chr7:119365111-119365112	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs564248088	chr7:119365130-119365131	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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	18451855	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119346800-119364200	Weak transcription	K562	blood
2	chr7:119364200-119364800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:119364200-119364800	Enhancers	K562	blood
4	chr7:119364800-119416000	Weak transcription	K562	blood
5	chr7:119366200-119367600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:119367600-119368000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:119368000-119374400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:119372800-119374400	Enhancers	HMEC	breast
9	chr7:119373000-119373600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:119373000-119373600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:119373000-119373800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:119373000-119374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:119373000-119374200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:119373000-119374200	Enhancers	NHEK	skin
15	chr7:119373600-119374000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:119374000-119374400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:119374400-119374600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:119382600-119384200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:119382800-119383400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:119383200-119384000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:119388000-119388600	Enhancers	Fetal Brain Female	brain
22	chr7:119388000-119389200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:119388200-119390200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:119388400-119388800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:119388400-119388800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:119388600-119389000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr7:119388600-119389600	Enhancers	Fetal Heart	heart
28	chr7:119388600-119389600	Enhancers	Fetal Lung	lung
29	chr7:119388800-119389400	Enhancers	Brain Germinal Matrix	brain
30	chr7:119388800-119393400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:119388800-119394600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:119389200-119393400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:119390200-119393600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:119393400-119393600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:119393400-119393600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:119393400-119396800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr7:119393400-119396800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:119393400-119397000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:119393600-119394800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:119393600-119395000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr7:119393600-119395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:119394000-119395400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:119394600-119395000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:119394600-119395600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:119394800-119395200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr7:119395000-119396000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:119395000-119396000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:119395200-119396400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:119395400-119395800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:119395600-119397000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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