Variant report

Variant	nsv1030379
Chromosome Location	chr7:119572954-119635442
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:90)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:119570469..119574295-chr7:119575625..119578871,3	K562	blood:
2	chr7:119544847..119547589-chr7:119588940..119593130,4	K562	blood:
3	chr7:119571307..119574427-chr7:119582065..119585012,4	K562	blood:
4	chr7:119601761..119606490-chr7:119613370..119617437,5	K562	blood:
5	chr7:119595929..119598016-chr7:119599722..119602227,2	K562	blood:
6	chr7:119575228..119576234-chr7:119911967..119912836,4	MCF-7	breast:
7	chr7:119596097..119599917-chr7:119604166..119607181,3	K562	blood:
8	chr7:119601761..119606490-chr7:119613370..119617437,5	K562	blood:
9	chr7:119584419..119586838-chr7:119603002..119604856,2	K562	blood:
10	chr7:119545928..119547433-chr7:119598260..119601242,2	K562	blood:
11	chr7:119603198..119605328-chr7:119613370..119615944,2	K562	blood:
12	chr7:119573578..119576146-chr7:119578787..119581903,3	K562	blood:
13	chr7:119592860..119595657-chr7:119604147..119608281,6	K562	blood:
14	chr7:119627874..119630349-chr7:119632523..119634037,2	K562	blood:
15	chr6:86388241..86388876-chr7:119633568..119634069,2	Hela-S3	cervix:
16	chr7:119573034..119574677-chr7:119575228..119577665,3	K562	blood:
17	chr7:119545952..119548179-chr7:119593312..119595306,2	K562	blood:
18	chr7:119575582..119577165-chr7:119582131..119584732,3	K562	blood:
19	chr7:119599851..119601809-chr7:119612155..119614686,2	K562	blood:
20	chr7:119590351..119592523-chr7:119610438..119612381,2	K562	blood:
21	chr7:119558453..119560333-chr7:119575522..119578295,2	K562	blood:
22	chr7:119584419..119586838-chr7:119603002..119604856,2	K562	blood:
23	chr7:119604091..119606659-chr7:119609179..119612506,3	K562	blood:
24	chr7:119546057..119547613-chr7:119602770..119604500,2	K562	blood:
25	chr7:119544225..119546800-chr7:119608946..119611395,2	K562	blood:
26	chr7:119570545..119573012-chr7:119573015..119575598,2	K562	blood:
27	chr2:38978035..38979008-chr7:119633548..119634049,2	Hela-S3	cervix:
28	chr7:119607984..119609980-chr7:119613441..119615371,3	K562	blood:
29	chr7:119570469..119574295-chr7:119575625..119578871,3	K562	blood:
30	chr7:119573034..119574677-chr7:119575228..119577665,3	K562	blood:
31	chr7:119605463..119608341-chr7:119623284..119625635,2	K562	blood:
32	chr7:119541414..119544010-chr7:119583938..119586887,3	K562	blood:
33	chr7:119573958..119576750-chr7:119589483..119591512,2	K562	blood:
34	chr7:119531336..119533343-chr7:119587590..119589885,2	K562	blood:
35	chr7:119588397..119591015-chr7:120565946..120567892,2	K562	blood:
36	chr7:119605463..119608341-chr7:119623284..119625635,2	K562	blood:
37	chr7:119533151..119535556-chr7:119574432..119576390,2	K562	blood:
38	chr7:119564930..119567525-chr7:119586667..119589307,3	K562	blood:
39	chr7:119573362..119575942-chr7:119596349..119600152,3	K562	blood:
40	chr7:119573362..119575942-chr7:119596349..119600152,3	K562	blood:
41	chr7:119592860..119595657-chr7:119604147..119608281,6	K562	blood:
42	chr7:119579726..119581869-chr7:119583415..119586890,3	K562	blood:
43	chr7:119544987..119547805-chr7:119577391..119580001,2	K562	blood:
44	chr7:119599851..119601809-chr7:119612155..119614686,2	K562	blood:
45	chr7:119541414..119544010-chr7:119583938..119585593,2	K562	blood:
46	chr7:119570997..119574569-chr7:119582922..119586334,5	K562	blood:
47	chr7:119623792..119625656-chr7:119627797..119629586,2	K562	blood:
48	chr7:119593756..119596259-chr7:119601631..119603821,2	K562	blood:
49	chr7:119607984..119609980-chr7:119613441..119615371,3	K562	blood:
50	chr7:119594641..119599063-chr7:119599275..119601348,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203875	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000196712	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000225546	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000189091	chromatin interactions

Extended variants
information (count: 1482 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1482 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577152555	chr7:119574428-119574429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189438818	chr7:119574429-119574430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571945635	chr7:119574493-119574494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563169306	chr7:119574534-119574535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34531282	chr7:119574598-119574599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114799750	chr7:119574599-119574600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542403248	chr7:119574621-119574622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142797153	chr7:119574622-119574623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35856456	chr7:119574624-119574625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192916253	chr7:119574679-119574680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184517336	chr7:119574689-119574690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566382428	chr7:119574693-119574694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532102578	chr7:119574699-119574700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564271744	chr7:119574760-119574761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115575072	chr7:119574850-119574851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569090937	chr7:119574861-119574862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74842416	chr7:119574887-119574888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548026239	chr7:119574890-119574891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567892542	chr7:119574912-119574913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34462034	chr7:119574915-119574916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189230865	chr7:119574967-119574968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562705330	chr7:119574969-119574970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539775345	chr7:119574971-119574972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556590167	chr7:119574977-119574978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10487407	chr7:119574993-119574994	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542540167	chr7:119575018-119575019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12334213	chr7:119575055-119575056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562300048	chr7:119575060-119575061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs118087065	chr7:119575084-119575085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545097293	chr7:119575156-119575157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181879705	chr7:119575166-119575167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186517747	chr7:119575172-119575173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528994783	chr7:119575210-119575211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532018112	chr7:119575256-119575257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189542306	chr7:119575275-119575276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544494338	chr7:119575282-119575283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562140018	chr7:119575302-119575303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560355447	chr7:119575481-119575482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559963129	chr7:119575584-119575585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527888719	chr7:119575643-119575644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144758504	chr7:119575679-119575680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12112212	chr7:119575680-119575681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs78948033	chr7:119575686-119575687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547578812	chr7:119575702-119575703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570885251	chr7:119575745-119575746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552092830	chr7:119575792-119575793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180731501	chr7:119575810-119575811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186116375	chr7:119575863-119575864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561649986	chr7:119575912-119575913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141776528	chr7:119575963-119575964	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
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
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
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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119574400-119575400	Enhancers	Fetal Lung	lung
2	chr7:119574400-119578400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:119575200-119577000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:119575400-119576000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:119579800-119584000	Weak transcription	K562	blood
6	chr7:119584000-119584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:119584000-119585000	Flanking Active TSS	K562	blood
8	chr7:119584200-119584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:119585000-119585800	Weak transcription	K562	blood
10	chr7:119585800-119590600	Active TSS	K562	blood
11	chr7:119589000-119589400	Enhancers	Ovary	ovary
12	chr7:119597400-119597600	Active TSS	K562	blood
13	chr7:119597400-119597800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:119597400-119597800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:119597600-119598000	Enhancers	HMEC	breast
16	chr7:119597600-119603800	Weak transcription	K562	blood
17	chr7:119597800-119598000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:119597800-119599400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:119598400-119599800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:119599200-119602200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:119599200-119602400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:119599400-119599600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:119599400-119602200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:119599400-119602400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:119599600-119600000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:119599600-119601400	Enhancers	HSMM	muscle
27	chr7:119599600-119602200	Enhancers	Osteobl	bone
28	chr7:119599800-119600200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:119599800-119600600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:119599800-119601200	Enhancers	NHEK	skin
31	chr7:119599800-119601800	Enhancers	NH-A	brain
32	chr7:119600000-119600800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:119600200-119600600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:119600200-119605200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:119600400-119600600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:119600400-119601200	Enhancers	NHDF-Ad	bronchial
37	chr7:119600400-119601200	Enhancers	NHLF	lung
38	chr7:119600600-119604800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:119600600-119605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:119601000-119601400	Enhancers	HUVEC	blood vessel
41	chr7:119601200-119604800	Weak transcription	NHDF-Ad	bronchial
42	chr7:119601200-119604800	Weak transcription	NHLF	lung
43	chr7:119601400-119603800	Weak transcription	HSMM	muscle
44	chr7:119601800-119604800	Weak transcription	NH-A	brain
45	chr7:119602200-119603800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:119602200-119603800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:119602200-119604800	Weak transcription	Osteobl	bone
48	chr7:119602400-119603800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:119602400-119603800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:119603800-119605000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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