Variant report

Variant	esv1841016
Chromosome Location	chr7:66697612-66700332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563313160	chr7:66697703-66697704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573578744	chr7:66697932-66697933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542386645	chr7:66698124-66698125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559385372	chr7:66698143-66698144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369300983	chr7:66698170-66698171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551163903	chr7:66698187-66698188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564696906	chr7:66698195-66698196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530753822	chr7:66698282-66698283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550454395	chr7:66698334-66698335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2949137	chr7:66698337-66698338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535824670	chr7:66698338-66698339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185416916	chr7:66698346-66698347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565785991	chr7:66698348-66698349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376864328	chr7:66698378-66698379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62465007	chr7:66698500-66698501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535075261	chr7:66698503-66698504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558396614	chr7:66698563-66698564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189401448	chr7:66698639-66698640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548654882	chr7:66698644-66698645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191088703	chr7:66698671-66698672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557611494	chr7:66698686-66698687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2901423	chr7:66698793-66698794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542627882	chr7:66698809-66698810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2421387	chr7:66698848-66698849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183639898	chr7:66698887-66698888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188314151	chr7:66698899-66698900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2421386	chr7:66698934-66698935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2421385	chr7:66698941-66698942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2421384	chr7:66699000-66699001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2421383	chr7:66699031-66699032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2421382	chr7:66699035-66699036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572902651	chr7:66699057-66699058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544694304	chr7:66699061-66699062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564782124	chr7:66699080-66699081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200361712	chr7:66699115-66699116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58069519	chr7:66699145-66699146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544131894	chr7:66699151-66699152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561249846	chr7:66699160-66699161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58383950	chr7:66699163-66699164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58014054	chr7:66699169-66699170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60875907	chr7:66699172-66699173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59141218	chr7:66699178-66699179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60324936	chr7:66699179-66699180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60539649	chr7:66699189-66699190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59991239	chr7:66699194-66699195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2901421	chr7:66699214-66699215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs57669285	chr7:66699217-66699218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59668340	chr7:66699218-66699219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549364256	chr7:66699220-66699221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57995491	chr7:66699225-66699226	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:62 , 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	chr7:66675800-66706600	Weak transcription	Aorta	Aorta
11	chr7:66675800-66706800	Weak transcription	Primary T cells from cord blood	blood
12	chr7:66676000-66702800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:66685000-66717000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:66687000-66706800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:66688200-66706800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:66688400-66708200	Weak transcription	Dnd41	blood
17	chr7:66688400-66710000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:66688800-66701000	Weak transcription	Left Ventricle	heart
19	chr7:66688800-66701400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:66688800-66703800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:66688800-66716600	Weak transcription	Fetal Intestine Large	intestine
22	chr7:66690600-66706000	Weak transcription	Primary B cells from cord blood	blood
23	chr7:66691000-66701000	Weak transcription	Fetal Stomach	stomach
24	chr7:66691400-66705000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:66691600-66702600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:66691600-66716400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:66691800-66701200	Weak transcription	Psoas Muscle	Psoas
28	chr7:66691800-66716200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:66691800-66716400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:66692000-66700000	Weak transcription	HSMM	muscle
31	chr7:66692000-66701000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:66692000-66707600	Weak transcription	Osteobl	bone
33	chr7:66692000-66708000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:66692000-66710600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr7:66692200-66703600	Weak transcription	K562	blood
36	chr7:66692400-66698400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:66693200-66707400	Weak transcription	Thymus	Thymus
38	chr7:66693400-66703800	Weak transcription	Fetal Intestine Small	intestine
39	chr7:66693400-66707800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:66694000-66707000	Weak transcription	Brain Anterior Caudate	brain
41	chr7:66694400-66715600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:66694800-66766600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:66695000-66716000	Weak transcription	Liver	Liver
44	chr7:66695200-66701000	Weak transcription	Adipose Nuclei	Adipose
45	chr7:66695400-66710800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:66695600-66701200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:66695600-66705400	Weak transcription	HepG2	liver
48	chr7:66696000-66716800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:66696400-66701000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:66696400-66708400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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