Variant report

Variant	nsv607415
Chromosome Location	chr7:66693028-66698793
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66691444..66695683-chr7:66701018..66704715,3	K562	blood:
2	chr7:66689176..66691737-chr7:66693504..66695940,2	K562	blood:

Extended variants
information (count: 210 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34237838	chr7:66693028-66693029	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187235246	chr7:66693061-66693062	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs34145957	chr7:66693064-66693065	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs558136330	chr7:66693085-66693086	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs574886651	chr7:66693179-66693180	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs59073608	chr7:66693184-66693185	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554224933	chr7:66693218-66693219	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs139758438	chr7:66693231-66693232	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75585182	chr7:66693246-66693247	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs540438228	chr7:66693255-66693256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs560061157	chr7:66693256-66693257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs192045143	chr7:66693259-66693260	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs76847013	chr7:66693272-66693273	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs75007971	chr7:66693275-66693276	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs78624744	chr7:66693283-66693284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs75720132	chr7:66693284-66693285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs77800546	chr7:66693293-66693294	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs367792239	chr7:66693294-66693295	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs74558823	chr7:66693310-66693311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201235322	chr7:66693323-66693324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs375219972	chr7:66693324-66693325	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs35325827	chr7:66693330-66693331	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs151039609	chr7:66693342-66693343	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140919918	chr7:66693405-66693406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34773993	chr7:66693414-66693415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs530107648	chr7:66693417-66693418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547172819	chr7:66693457-66693458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566908906	chr7:66693472-66693473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185194910	chr7:66693526-66693527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558823040	chr7:66693532-66693533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568543323	chr7:66693656-66693657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537434239	chr7:66693676-66693677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575437212	chr7:66693678-66693679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11762516	chr7:66693686-66693687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs113944584	chr7:66693716-66693717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190484420	chr7:66693812-66693813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539903130	chr7:66693857-66693858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182072268	chr7:66693864-66693865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564818715	chr7:66693865-66693866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576960696	chr7:66693929-66693930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546145602	chr7:66693944-66693945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562756366	chr7:66693960-66693961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531601450	chr7:66693991-66693992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34366571	chr7:66694070-66694071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs145947738	chr7:66694075-66694076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530220013	chr7:66694115-66694116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546767274	chr7:66694163-66694164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143584693	chr7:66694252-66694253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555138676	chr7:66694253-66694254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532577011	chr7:66694284-66694285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Hodgkin''s lymphoma	18641027	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
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	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
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	20668451	CNVD
Prostate cancer	20601956	CNVD
Nasopharyngeal cancer	22815911	CNVD
Prostate cancer	21248069	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Prostate cancer	17297502	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66654600-66704600	Weak transcription	Gastric	stomach
2	chr7:66654600-66709600	Weak transcription	Lung	lung
3	chr7:66658000-66703200	Weak transcription	Ovary	ovary
4	chr7:66660600-66701600	Weak transcription	Fetal Kidney	kidney
5	chr7:66660600-66703000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:66665600-66706800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:66665800-66703400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:66667800-66738400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:66670600-66713800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:66675800-66693800	Weak transcription	Fetal Lung	lung
11	chr7:66675800-66706600	Weak transcription	Aorta	Aorta
12	chr7:66675800-66706800	Weak transcription	Primary T cells from cord blood	blood
13	chr7:66676000-66702800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:66685000-66717000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:66687000-66706800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:66687800-66696000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:66688200-66706800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:66688400-66694600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:66688400-66696400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:66688400-66708200	Weak transcription	Dnd41	blood
21	chr7:66688400-66710000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:66688800-66696200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:66688800-66701000	Weak transcription	Left Ventricle	heart
24	chr7:66688800-66701400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:66688800-66703800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr7:66688800-66716600	Weak transcription	Fetal Intestine Large	intestine
27	chr7:66689000-66694200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:66690600-66706000	Weak transcription	Primary B cells from cord blood	blood
29	chr7:66691000-66701000	Weak transcription	Fetal Stomach	stomach
30	chr7:66691400-66705000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:66691600-66694200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:66691600-66702600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:66691600-66716400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:66691800-66701200	Weak transcription	Psoas Muscle	Psoas
35	chr7:66691800-66716200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:66691800-66716400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:66692000-66693800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:66692000-66694400	Weak transcription	Adipose Nuclei	Adipose
39	chr7:66692000-66694600	Weak transcription	HepG2	liver
40	chr7:66692000-66700000	Weak transcription	HSMM	muscle
41	chr7:66692000-66701000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:66692000-66707600	Weak transcription	Osteobl	bone
43	chr7:66692000-66708000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:66692000-66710600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr7:66692200-66694800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:66692200-66695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:66692200-66703600	Weak transcription	K562	blood
48	chr7:66692400-66698400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:66692800-66693200	ZNF genes & repeats	GM12878-XiMat	blood
50	chr7:66693000-66693200	ZNF genes & repeats	Thymus	Thymus

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