Variant report

Variant	nsv932842
Chromosome Location	chr7:33192563-33192833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10241188	chr7:33192591-33192592	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34249217	chr7:33192600-33192601	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538386059	chr7:33192686-33192687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534452254	chr7:33192729-33192730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556497321	chr7:33192739-33192740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190845881	chr7:33192751-33192752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115043706	chr7:33192766-33192767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575007740	chr7:33192777-33192778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17473365	chr7:33192800-33192801	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:72)

Disease	PMID	Source
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
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
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Williams-beuren syndrome	18553513	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33170200-33205800	Weak transcription	Aorta	Aorta
2	chr7:33171200-33196200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:33171200-33205800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:33171200-33206600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:33176400-33206000	Weak transcription	Liver	Liver
6	chr7:33177200-33193200	Weak transcription	Ovary	ovary
7	chr7:33179600-33195000	Weak transcription	Fetal Brain Male	brain
8	chr7:33182400-33193200	Weak transcription	Primary T cells from cord blood	blood
9	chr7:33182400-33210200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:33182800-33205600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:33184600-33205800	Weak transcription	Fetal Lung	lung
12	chr7:33184800-33217200	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:33185000-33205800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:33185200-33196200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:33185400-33196400	Weak transcription	Brain Substantia Nigra	brain
16	chr7:33185400-33196800	Weak transcription	Brain Anterior Caudate	brain
17	chr7:33185400-33218000	Weak transcription	Brain Angular Gyrus	brain
18	chr7:33185600-33205600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:33185600-33224000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:33187000-33196400	Weak transcription	Adipose Nuclei	Adipose
21	chr7:33189000-33197200	Weak transcription	HSMMtube	muscle
22	chr7:33189200-33206800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:33190000-33217600	Weak transcription	Left Ventricle	heart
24	chr7:33190200-33230400	Weak transcription	Gastric	stomach
25	chr7:33190400-33197400	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:33190800-33194800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:33191200-33193600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:33191400-33205800	Weak transcription	Fetal Intestine Large	intestine
29	chr7:33191600-33205800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:33191800-33196600	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:33191800-33199600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:33192000-33192800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr7:33192000-33197400	Weak transcription	Fetal Heart	heart
34	chr7:33192000-33205600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr7:33192200-33195600	Weak transcription	Fetal Kidney	kidney
36	chr7:33192200-33199800	Weak transcription	Primary B cells from cord blood	blood
37	chr7:33192400-33195800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:33192600-33205000	Weak transcription	Fetal Stomach	stomach
39	chr7:33192800-33195200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr7:33192800-33196000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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