Variant report

Variant	nsv607664
Chromosome Location	chr7:78998409-79057761
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:79036736..79038245-chr7:79041747..79043274,2	K562	blood:
2	chr7:79011096..79013975-chr7:79014209..79017133,2	MCF-7	breast:
3	chr7:78977361..78978896-chr7:79043903..79046403,2	K562	blood:
4	chr7:79053495..79057290-chr7:79076509..79078816,3	MCF-7	breast:
5	chr7:79036736..79038245-chr7:79041747..79043274,2	K562	blood:
6	chr7:79011096..79013975-chr7:79014209..79017133,2	MCF-7	breast:
7	chr7:79017286..79019685-chr7:79023052..79025297,2	MCF-7	breast:
8	chr7:79017286..79019685-chr7:79023052..79025297,2	MCF-7	breast:

No data

Extended variants
information (count: 2208 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2208 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34429084	chr7:79001607-79001608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540126787	chr7:79001622-79001623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188014449	chr7:79001648-79001649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552471348	chr7:79001649-79001650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573066864	chr7:79001652-79001653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149085128	chr7:79001653-79001654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368290097	chr7:79001683-79001684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560108221	chr7:79001719-79001720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113802559	chr7:79001776-79001777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528915037	chr7:79001819-79001820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548976708	chr7:79001868-79001869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs848916	chr7:79001873-79001874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531425266	chr7:79001944-79001945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552013272	chr7:79001949-79001950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193152628	chr7:79001997-79001998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571704517	chr7:79002150-79002151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183139243	chr7:79002154-79002155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534530840	chr7:79002177-79002178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545352013	chr7:79002240-79002241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534614971	chr7:79002304-79002305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554674076	chr7:79002318-79002319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10263750	chr7:79002424-79002425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs187833825	chr7:79002431-79002432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556138149	chr7:79002475-79002476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574585227	chr7:79002511-79002512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375231674	chr7:79002552-79002553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536817013	chr7:79002571-79002572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576135134	chr7:79002615-79002616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538696817	chr7:79002622-79002623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200287433	chr7:79002675-79002676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192407153	chr7:79002713-79002714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369484437	chr7:79002724-79002725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185007403	chr7:79002776-79002777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540405480	chr7:79002803-79002804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556473646	chr7:79002814-79002815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560215302	chr7:79002901-79002902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6977556	chr7:79002967-79002968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs372668230	chr7:79002992-79002993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542686024	chr7:79003021-79003022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545358408	chr7:79003107-79003108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562427187	chr7:79003108-79003109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375903098	chr7:79003168-79003169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149444709	chr7:79003179-79003180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551163323	chr7:79003198-79003199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565492587	chr7:79003221-79003222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527915694	chr7:79003242-79003243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189281849	chr7:79003331-79003332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567913180	chr7:79003336-79003337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536504597	chr7:79003351-79003352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115471173	chr7:79003370-79003371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79001600-79002000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr7:79002000-79005800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:79004400-79004600	Enhancers	Brain Substantia Nigra	brain
4	chr7:79005800-79006600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr7:79005800-79007000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:79005800-79007200	Enhancers	Ovary	ovary
7	chr7:79006000-79007000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:79006400-79006600	Weak transcription	Brain Substantia Nigra	brain
9	chr7:79006400-79006800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:79006600-79006800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:79006600-79007200	Enhancers	Brain Substantia Nigra	brain
12	chr7:79006600-79007200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:79007200-79007800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:79007200-79015800	Weak transcription	Brain Substantia Nigra	brain
15	chr7:79009600-79010000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr7:79009600-79010000	Enhancers	HSMMtube	muscle
17	chr7:79010000-79011200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:79011200-79011400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr7:79011200-79011800	Enhancers	Fetal Brain Male	brain
20	chr7:79013400-79016000	Weak transcription	NHLF	lung
21	chr7:79015400-79015600	Weak transcription	A549	lung
22	chr7:79015600-79015800	Enhancers	A549	lung
23	chr7:79015600-79017600	Enhancers	HUVEC	blood vessel
24	chr7:79015800-79016000	Enhancers	Brain Substantia Nigra	brain
25	chr7:79015800-79017000	Flanking Active TSS	A549	lung
26	chr7:79016000-79016400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:79016000-79016400	Enhancers	Lung	lung
28	chr7:79016000-79016400	Enhancers	Hela-S3	cervix
29	chr7:79016000-79016400	Enhancers	NHLF	lung
30	chr7:79016000-79016600	Weak transcription	Brain Substantia Nigra	brain
31	chr7:79016000-79016800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:79016000-79016800	Enhancers	Osteobl	bone
33	chr7:79016000-79017800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:79016200-79016800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr7:79016200-79017000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:79016400-79017000	Enhancers	HepG2	liver
37	chr7:79016600-79016800	Enhancers	Brain Substantia Nigra	brain
38	chr7:79016800-79017400	Weak transcription	Brain Substantia Nigra	brain
39	chr7:79017000-79017600	Enhancers	A549	lung
40	chr7:79017400-79017600	Enhancers	Brain Substantia Nigra	brain
41	chr7:79017600-79030400	Weak transcription	Brain Substantia Nigra	brain
42	chr7:79023200-79025800	Weak transcription	Gastric	stomach
43	chr7:79023400-79023800	Enhancers	Brain Cingulate Gyrus	brain
44	chr7:79023800-79024000	Enhancers	Brain Hippocampus Middle	brain
45	chr7:79023800-79024600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr7:79023800-79027400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:79024000-79025400	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:79024600-79026800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:79025400-79025800	Enhancers	Brain Hippocampus Middle	brain
50	chr7:79025800-79026800	Weak transcription	Brain Hippocampus Middle	brain

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