Variant report

Variant	nsv1034757
Chromosome Location	chr7:119566828-119635442
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:96)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:96 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:119592860..119595657-chr7:119604147..119608281,6	K562	blood:
2	chr7:119533151..119535556-chr7:119574432..119576390,2	K562	blood:
3	chr7:119573362..119575942-chr7:119596349..119600152,3	K562	blood:
4	chr7:119623792..119625656-chr7:119627797..119629586,2	K562	blood:
5	chr7:119564930..119567525-chr7:119586667..119589307,3	K562	blood:
6	chr7:119592860..119595657-chr7:119604147..119608281,6	K562	blood:
7	chr7:119575582..119577165-chr7:119582131..119584732,3	K562	blood:
8	chr7:119571307..119574427-chr7:119582065..119585012,4	K562	blood:
9	chr7:119544847..119547589-chr7:119588940..119593130,4	K562	blood:
10	chr7:119584419..119586838-chr7:119603002..119604856,2	K562	blood:
11	chr7:119590351..119592523-chr7:119610438..119612381,2	K562	blood:
12	chr7:119589512..119591360-chr7:119594151..119597360,3	K562	blood:
13	chr7:119541414..119544010-chr7:119583938..119586887,3	K562	blood:
14	chr7:119569917..119573770-chr7:119586780..119589332,3	K562	blood:
15	chr7:119545952..119548179-chr7:119593312..119595306,2	K562	blood:
16	chr7:119547567..119549067-chr7:119606535..119609324,2	K562	blood:
17	chr7:119531336..119533343-chr7:119587590..119589885,2	K562	blood:
18	chr7:119573578..119576146-chr7:119578787..119581903,3	K562	blood:
19	chr7:119546333..119548677-chr7:119583508..119586175,2	K562	blood:
20	chr7:119569917..119573770-chr7:119586780..119589332,3	K562	blood:
21	chr7:119570469..119572093-chr7:119577244..119578871,2	K562	blood:
22	chr7:119609825..119612771-chr7:119797844..119799640,2	K562	blood:
23	chr7:119601761..119606490-chr7:119613370..119617437,5	K562	blood:
24	chr7:119607984..119609980-chr7:119613441..119615371,3	K562	blood:
25	chr7:119596097..119601852-chr7:119602330..119605666,5	K562	blood:
26	chr7:119570469..119572093-chr7:119577244..119578871,2	K562	blood:
27	chr7:119572787..119576146-chr7:119578976..119581903,5	K562	blood:
28	chr7:119579726..119581869-chr7:119583415..119586890,3	K562	blood:
29	chr7:119569986..119573012-chr7:119573015..119575598,3	K562	blood:
30	chr7:119613490..119615786-chr7:119615984..119618281,3	K562	blood:
31	chr7:119572787..119576146-chr7:119578976..119581903,5	K562	blood:
32	chr7:119627874..119630349-chr7:119632523..119634037,2	K562	blood:
33	chr7:119596097..119599917-chr7:119604166..119607181,3	K562	blood:
34	chr7:119604091..119606659-chr7:119609179..119612506,3	K562	blood:
35	chr7:119573362..119575942-chr7:119596349..119600152,3	K562	blood:
36	chr7:119561524..119564382-chr7:119564905..119567041,3	K562	blood:
37	chr7:119545841..119548270-chr7:119587214..119590223,3	K562	blood:
38	chr7:119593756..119596259-chr7:119601631..119603821,2	K562	blood:
39	chr7:119601761..119606490-chr7:119613370..119617437,5	K562	blood:
40	chr7:119570997..119574569-chr7:119582922..119586334,5	K562	blood:
41	chr7:119595929..119598016-chr7:119599722..119602227,2	K562	blood:
42	chr7:119578083..119580196-chr7:119586572..119589192,2	K562	blood:
43	chr7:119573958..119576750-chr7:119589483..119591512,2	K562	blood:
44	chr7:119599851..119601809-chr7:119612155..119614686,2	K562	blood:
45	chr7:119603198..119605328-chr7:119613370..119615944,2	K562	blood:
46	chr7:119594641..119599063-chr7:119599275..119601348,3	K562	blood:
47	chr7:119558634..119561152-chr7:119564174..119567043,2	K562	blood:
48	chr6:86388241..86388876-chr7:119633568..119634069,2	Hela-S3	cervix:
49	chr7:119570469..119574295-chr7:119575625..119578871,3	K562	blood:
50	chr7:119573034..119574677-chr7:119575228..119577665,3	K562	blood:

No data

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

Extended variants
information (count: 1682 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1682 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568630807	chr7:119566831-119566832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374741424	chr7:119566841-119566842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536402127	chr7:119566870-119566871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546699324	chr7:119566872-119566873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113125512	chr7:119566894-119566895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149452367	chr7:119566904-119566905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112750333	chr7:119566928-119566929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575407189	chr7:119566994-119566995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34005296	chr7:119567002-119567003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75557906	chr7:119567046-119567047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148629268	chr7:119567051-119567052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377247111	chr7:119567072-119567073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554512405	chr7:119567076-119567077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574271314	chr7:119567107-119567108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540361812	chr7:119567158-119567159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560178506	chr7:119567241-119567242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142171646	chr7:119567242-119567243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146711939	chr7:119567303-119567304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183663265	chr7:119567305-119567306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531953419	chr7:119567353-119567354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111992657	chr7:119567384-119567385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371585948	chr7:119567392-119567393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548860822	chr7:119567394-119567395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78085858	chr7:119567436-119567437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs139296097	chr7:119567474-119567475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs527875482	chr7:119567494-119567495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs546735563	chr7:119567523-119567524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566524315	chr7:119567558-119567559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs75291106	chr7:119567562-119567563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs532153098	chr7:119567627-119567628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144167498	chr7:119567674-119567675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568828502	chr7:119567691-119567692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113483577	chr7:119567700-119567701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376534360	chr7:119567747-119567748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369790313	chr7:119567754-119567755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567929312	chr7:119567772-119567773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34954419	chr7:119567787-119567788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533709836	chr7:119567819-119567820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188395744	chr7:119567836-119567837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181218762	chr7:119567883-119567884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546269404	chr7:119567913-119567914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186965016	chr7:119568003-119568004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556124708	chr7:119568083-119568084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576367335	chr7:119568084-119568085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572961363	chr7:119568096-119568097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542194703	chr7:119568135-119568136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562335752	chr7:119568173-119568174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140456600	chr7:119568201-119568202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369513801	chr7:119568203-119568204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541596016	chr7:119568222-119568223	Weak transcription	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119566400-119567400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:119567400-119567600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:119567400-119567600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:119567600-119572600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:119570200-119571600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:119571400-119572200	Enhancers	K562	blood
7	chr7:119574400-119575400	Enhancers	Fetal Lung	lung
8	chr7:119574400-119578400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:119575200-119577000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:119575400-119576000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:119579800-119584000	Weak transcription	K562	blood
12	chr7:119584000-119584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:119584000-119585000	Flanking Active TSS	K562	blood
14	chr7:119584200-119584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:119585000-119585800	Weak transcription	K562	blood
16	chr7:119585800-119590600	Active TSS	K562	blood
17	chr7:119589000-119589400	Enhancers	Ovary	ovary
18	chr7:119597400-119597600	Active TSS	K562	blood
19	chr7:119597400-119597800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:119597400-119597800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:119597600-119598000	Enhancers	HMEC	breast
22	chr7:119597600-119603800	Weak transcription	K562	blood
23	chr7:119597800-119598000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:119597800-119599400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:119598400-119599800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:119599200-119602200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:119599200-119602400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:119599400-119599600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:119599400-119602200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:119599400-119602400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:119599600-119600000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:119599600-119601400	Enhancers	HSMM	muscle
33	chr7:119599600-119602200	Enhancers	Osteobl	bone
34	chr7:119599800-119600200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:119599800-119600600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:119599800-119601200	Enhancers	NHEK	skin
37	chr7:119599800-119601800	Enhancers	NH-A	brain
38	chr7:119600000-119600800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:119600200-119600600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:119600200-119605200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:119600400-119600600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:119600400-119601200	Enhancers	NHDF-Ad	bronchial
43	chr7:119600400-119601200	Enhancers	NHLF	lung
44	chr7:119600600-119604800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:119600600-119605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:119601000-119601400	Enhancers	HUVEC	blood vessel
47	chr7:119601200-119604800	Weak transcription	NHDF-Ad	bronchial
48	chr7:119601200-119604800	Weak transcription	NHLF	lung
49	chr7:119601400-119603800	Weak transcription	HSMM	muscle
50	chr7:119601800-119604800	Weak transcription	NH-A	brain

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