Variant report

Variant	esv3430506
Chromosome Location	chr7:18651877-18653825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533325130	chr7:18651897-18651898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3807901	chr7:18651923-18651924	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188554823	chr7:18651924-18651925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192153329	chr7:18651928-18651929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183833948	chr7:18651940-18651941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567362955	chr7:18652023-18652024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537583379	chr7:18652025-18652026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533545597	chr7:18652030-18652031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534982534	chr7:18652044-18652045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572620783	chr7:18652059-18652060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188555687	chr7:18652062-18652063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538821500	chr7:18652079-18652080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554125752	chr7:18652105-18652106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs706084	chr7:18652115-18652116	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534190530	chr7:18652130-18652131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545825087	chr7:18652151-18652152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150205343	chr7:18652172-18652173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139300186	chr7:18652228-18652229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544404214	chr7:18652230-18652231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368091834	chr7:18652240-18652241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562981663	chr7:18652243-18652244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577830060	chr7:18652258-18652259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556381408	chr7:18652271-18652272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5882666	chr7:18652290-18652291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397737901	chr7:18652291-18652292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201668428	chr7:18652292-18652293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143326053	chr7:18652323-18652324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527938404	chr7:18652324-18652325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369171462	chr7:18652357-18652358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147079733	chr7:18652365-18652366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531315264	chr7:18652392-18652393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181343841	chr7:18652411-18652412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542048081	chr7:18652433-18652434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561735802	chr7:18652460-18652461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184422312	chr7:18652461-18652462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372119892	chr7:18652465-18652466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527430855	chr7:18652528-18652529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547569362	chr7:18652549-18652550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189302532	chr7:18652564-18652565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182286788	chr7:18652616-18652617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187275218	chr7:18652620-18652621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573558320	chr7:18652627-18652628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190484215	chr7:18652708-18652709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554824286	chr7:18652735-18652736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573982799	chr7:18652739-18652740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541000975	chr7:18652756-18652757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111439028	chr7:18652786-18652787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556403110	chr7:18652794-18652795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563975021	chr7:18652850-18652851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577667541	chr7:18652968-18652969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18641200-18670800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:18641400-18663400	Weak transcription	Brain Angular Gyrus	brain
3	chr7:18641400-18687600	Weak transcription	Fetal Heart	heart
4	chr7:18644800-18666600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:18644800-18678000	Weak transcription	Fetal Brain Male	brain
6	chr7:18645200-18652000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:18645200-18653800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:18645200-18654000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:18645200-18659000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:18645200-18677800	Weak transcription	NHDF-Ad	bronchial
11	chr7:18645200-18678200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:18645200-18687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:18645200-18708000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:18645400-18661600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:18645400-18662400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:18645400-18686600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:18645400-18687400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:18645400-18687800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:18645400-18721000	Weak transcription	Psoas Muscle	Psoas
20	chr7:18645600-18676800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr7:18645800-18659000	Weak transcription	HSMMtube	muscle
22	chr7:18645800-18662800	Weak transcription	Brain Germinal Matrix	brain
23	chr7:18645800-18663200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:18645800-18663400	Weak transcription	Left Ventricle	heart
25	chr7:18645800-18684400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:18645800-18687400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:18645800-18687400	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:18645800-18706000	Weak transcription	HMEC	breast
29	chr7:18646000-18658800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:18646000-18674000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:18646000-18678000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:18646000-18678000	Weak transcription	Fetal Brain Female	brain
33	chr7:18646000-18687400	Weak transcription	NHEK	skin
34	chr7:18646000-18692400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr7:18647000-18657800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:18647000-18661400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:18647200-18665600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:18647200-18665800	Weak transcription	HSMM	muscle
39	chr7:18647200-18687800	Weak transcription	NH-A	brain
40	chr7:18649200-18675200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:18649200-18687400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:18650400-18659400	Weak transcription	Aorta	Aorta
43	chr7:18650600-18652000	Weak transcription	Primary B cells from cord blood	blood
44	chr7:18650600-18654400	Weak transcription	Stomach Mucosa	stomach
45	chr7:18652000-18652200	Strong transcription	Primary B cells from cord blood	blood
46	chr7:18652000-18652800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:18652000-18677600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:18652200-18652400	Weak transcription	Primary B cells from cord blood	blood
49	chr7:18652200-18662200	Weak transcription	Brain Substantia Nigra	brain
50	chr7:18652400-18668000	Strong transcription	Primary B cells from cord blood	blood

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