Variant report

Variant	nsv916265
Chromosome Location	chr7:69367265-69433076
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66843281..66844030-chr7:69396720..69397270,2	MCF-7	breast:
2	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:
3	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:
4	chr17:17140568..17141073-chr7:69416276..69416797,2	HCT-116	colon:
5	chr7:69399373..69401359-chr7:69403771..69405958,2	K562	blood:
6	chr7:66842914..66843798-chr7:69396772..69397448,2	MCF-7	breast:
7	chr7:69407235..69410156-chr7:69414397..69415945,2	K562	blood:
8	chr7:69399373..69401359-chr7:69403771..69405958,2	K562	blood:
9	chr7:69382134..69383940-chr7:69390397..69392877,2	K562	blood:
10	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
11	chr7:68868267..68868830-chr7:69396795..69397420,2	MCF-7	breast:
12	chr7:69362288..69364845-chr7:69376146..69378504,2	MCF-7	breast:
13	chr7:69407235..69410156-chr7:69414397..69415945,2	K562	blood:
14	chr7:67090035..67090810-chr7:69396778..69397635,2	K562	blood:
15	chr7:66836557..66837060-chr7:69396635..69397168,2	K562	blood:
16	chr7:69392216..69395197-chr8:71487916..71489899,2	MCF-7	breast:
17	chr7:69382134..69383940-chr7:69390397..69392877,2	K562	blood:
18	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:
19	chr7:69422896..69425409-chr7:69440425..69442318,2	K562	blood:

No data

Extended variants
information (count: 2093 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2093 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566508930	chr7:69367325-69367326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375280802	chr7:69367365-69367366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375288153	chr7:69367422-69367423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533635146	chr7:69367463-69367464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116049472	chr7:69367477-69367478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192066354	chr7:69367515-69367516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537600554	chr7:69367533-69367534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555948401	chr7:69367540-69367541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572277056	chr7:69367544-69367545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577847957	chr7:69367600-69367601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182847157	chr7:69367672-69367673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200244191	chr7:69367744-69367745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375151494	chr7:69367847-69367848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374288090	chr7:69367855-69367856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560268824	chr7:69367877-69367878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142398270	chr7:69367958-69367959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375161935	chr7:69367986-69367987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543061984	chr7:69367992-69367993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75709651	chr7:69368001-69368002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531847576	chr7:69368002-69368003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12698814	chr7:69368003-69368004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565515033	chr7:69368009-69368010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532691641	chr7:69368092-69368093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186282064	chr7:69368118-69368119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190698983	chr7:69368129-69368130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560964727	chr7:69368189-69368190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533516457	chr7:69368206-69368207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563408452	chr7:69368216-69368217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150863138	chr7:69368244-69368245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11770241	chr7:69368250-69368251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537588308	chr7:69368312-69368313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182271816	chr7:69368333-69368334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12698815	chr7:69368351-69368352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575549395	chr7:69368360-69368361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538544246	chr7:69368417-69368418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566896951	chr7:69368466-69368467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554002617	chr7:69368512-69368513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572274804	chr7:69368547-69368548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139606822	chr7:69368562-69368563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531948723	chr7:69368563-69368564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34470623	chr7:69368569-69368570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551922024	chr7:69368602-69368603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555013833	chr7:69368674-69368675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75665131	chr7:69368718-69368719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543981299	chr7:69368757-69368758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565316464	chr7:69368817-69368818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559975866	chr7:69368857-69368858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532705166	chr7:69368890-69368891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541286941	chr7:69368902-69368903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559947359	chr7:69369039-69369040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	21115979	CNVD
Glioma	20126413	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:999 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69311400-69371600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69351200-69375400	Weak transcription	Fetal Stomach	stomach
3	chr7:69355400-69368000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:69355400-69370600	Weak transcription	Fetal Brain Female	brain
5	chr7:69355400-69371200	Weak transcription	Brain Anterior Caudate	brain
6	chr7:69355400-69372000	Weak transcription	Adipose Nuclei	Adipose
7	chr7:69355400-69376600	Weak transcription	Ovary	ovary
8	chr7:69359000-69371400	Weak transcription	Brain Germinal Matrix	brain
9	chr7:69359000-69372000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:69360600-69371400	Enhancers	Dnd41	blood
11	chr7:69361400-69367800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:69361400-69368000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:69361400-69371200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:69361400-69371200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:69361400-69373200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:69361600-69368000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:69361600-69371200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:69362000-69373000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:69365000-69371200	Weak transcription	Fetal Thymus	thymus
20	chr7:69365200-69370200	Weak transcription	GM12878-XiMat	blood
21	chr7:69366000-69369200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:69366000-69371200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:69366600-69369400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:69366600-69369400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:69366800-69371200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:69367200-69367400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:69367200-69369200	Enhancers	Primary hematopoietic stem cells	blood
28	chr7:69367400-69368000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:69368000-69368200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:69368000-69368400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr7:69368000-69368800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:69368000-69368800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:69368200-69368800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:69368200-69368800	Enhancers	Colon Smooth Muscle	Colon
35	chr7:69368400-69368800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:69368800-69371200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:69368800-69371200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:69368800-69377000	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:69368800-69377600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:69369200-69370600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:69369200-69371400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:69369400-69370400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:69369400-69370600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:69370200-69371000	Enhancers	GM12878-XiMat	blood
45	chr7:69370400-69370600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:69370400-69370800	Enhancers	Esophagus	oesophagus
47	chr7:69370400-69373600	Enhancers	Fetal Brain Male	brain
48	chr7:69370600-69371000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:69370600-69371600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:69370600-69372400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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