Variant report

Variant	nsv606462
Chromosome Location	chr7:26613558-26624392
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	chr7:26618639..26620455-chr7:27197856..27200640,2	K562	blood:
2	chr7:26613829..26615976-chr7:26617749..26620740,2	MCF-7	breast:
3	chr7:26619340..26622122-chr7:26627173..26629926,2	K562	blood:
4	chr7:26606033..26608543-chr7:26616098..26618406,2	K562	blood:
5	chr7:26617740..26620643-chr7:26621419..26623804,2	MCF-7	breast:
6	chr7:26613829..26615976-chr7:26617749..26620740,2	MCF-7	breast:
7	chr7:26617740..26620643-chr7:26621419..26623804,2	MCF-7	breast:
8	chr7:26620915..26623663-chr7:26626634..26628257,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270182	chromatin interactions

Extended variants
information (count: 376 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10951141	chr7:26613558-26613559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144042674	chr7:26613613-26613614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181327932	chr7:26613656-26613657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534650048	chr7:26613679-26613680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10245893	chr7:26613691-26613692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544683464	chr7:26613713-26613714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186335914	chr7:26613783-26613784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146440853	chr7:26613787-26613788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537264876	chr7:26613808-26613809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141357448	chr7:26613835-26613836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116228158	chr7:26613853-26613854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189997235	chr7:26613880-26613881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372747930	chr7:26613919-26613920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572684522	chr7:26613958-26613959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181547146	chr7:26614006-26614007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561651654	chr7:26614007-26614008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561370899	chr7:26614014-26614015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543619401	chr7:26614016-26614017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563395926	chr7:26614039-26614040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532518108	chr7:26614045-26614046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145092713	chr7:26614055-26614056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369137905	chr7:26614067-26614068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565973056	chr7:26614082-26614083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138968366	chr7:26614087-26614088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554425194	chr7:26614096-26614097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186407158	chr7:26614153-26614154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149005068	chr7:26614156-26614157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529857803	chr7:26614161-26614162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537200081	chr7:26614170-26614171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200636927	chr7:26614173-26614174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201655984	chr7:26614174-26614175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200016340	chr7:26614176-26614177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200629242	chr7:26614177-26614178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557193976	chr7:26614238-26614239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4722614	chr7:26614241-26614242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs143683401	chr7:26614275-26614276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552914074	chr7:26614285-26614286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148088424	chr7:26614364-26614365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541828920	chr7:26614369-26614370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554924862	chr7:26614377-26614378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571308715	chr7:26614400-26614401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71554061	chr7:26614428-26614429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs398047611	chr7:26614436-26614437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183148713	chr7:26614575-26614576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377123107	chr7:26614579-26614580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147276724	chr7:26615823-26615824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557197383	chr7:26615826-26615827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577129793	chr7:26615839-26615840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539597850	chr7:26615851-26615852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553576273	chr7:26615857-26615858	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26613400-26614600	Enhancers	Hela-S3	cervix
2	chr7:26613800-26614400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:26613800-26614400	Enhancers	NHEK	skin
4	chr7:26614000-26614400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:26615800-26616400	Enhancers	Fetal Heart	heart
6	chr7:26616200-26616400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:26617200-26618200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:26617600-26618200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:26617800-26618400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:26618200-26618400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
11	chr7:26618200-26618600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:26618200-26619400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:26618400-26618600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
14	chr7:26618400-26620000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:26618600-26627200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:26618800-26620400	Enhancers	Fetal Muscle Leg	muscle
17	chr7:26619000-26619400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:26619400-26620600	Enhancers	Fetal Brain Male	brain
19	chr7:26619400-26621200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:26619400-26627000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:26620000-26620600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:26620200-26620600	Enhancers	Fetal Brain Female	brain
23	chr7:26620400-26620800	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:26620600-26624200	Weak transcription	Fetal Brain Male	brain
25	chr7:26620600-26624400	Weak transcription	Fetal Brain Female	brain
26	chr7:26620600-26624600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:26620800-26621400	Enhancers	Fetal Muscle Leg	muscle
28	chr7:26621400-26622000	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr7:26624200-26624400	Enhancers	Fetal Brain Male	brain

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