Variant report

Variant	esv3440897
Chromosome Location	chr3:195710555-195715453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 167 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200511326	chr3:195710584-195710585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558105874	chr3:195710596-195710597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539361801	chr3:195710605-195710606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576558815	chr3:195710640-195710641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543810251	chr3:195710651-195710652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555631437	chr3:195710691-195710692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573708356	chr3:195710693-195710694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540981094	chr3:195710701-195710702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559443233	chr3:195710743-195710744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28694649	chr3:195710757-195710758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371660026	chr3:195710813-195710814	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199721275	chr3:195710815-195710816	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28446370	chr3:195710829-195710830	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs533298192	chr3:195710839-195710840	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545461536	chr3:195710858-195710859	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564171548	chr3:195710864-195710865	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531522791	chr3:195710931-195710932	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550105968	chr3:195710937-195710938	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2859578	chr3:195710947-195710948	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368472526	chr3:195710948-195710949	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181615860	chr3:195710967-195710968	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4927836	chr3:195710971-195710972	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568312770	chr3:195710974-195710975	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528916711	chr3:195710977-195710978	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199904597	chr3:195710978-195710979	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2620604	chr3:195710989-195710990	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4927692	chr3:195710993-195710994	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73208034	chr3:195710995-195710996	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79282413	chr3:195711016-195711017	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56383352	chr3:195711042-195711043	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557833767	chr3:195711054-195711055	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570197631	chr3:195711062-195711063	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537612199	chr3:195711070-195711071	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555643539	chr3:195711081-195711082	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573969227	chr3:195711082-195711083	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541042920	chr3:195711094-195711095	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552976158	chr3:195711114-195711115	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577967301	chr3:195711167-195711168	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369644849	chr3:195711181-195711182	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202020169	chr3:195711182-195711183	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111503518	chr3:195711185-195711186	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563761223	chr3:195711189-195711190	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200982207	chr3:195711200-195711201	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576157282	chr3:195711201-195711202	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543613331	chr3:195711213-195711214	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561976364	chr3:195711220-195711221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529241495	chr3:195711313-195711314	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184436838	chr3:195711328-195711329	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200252504	chr3:195711343-195711344	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111857944	chr3:195711346-195711347	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195682600-195715600	Weak transcription	Psoas Muscle	Psoas
2	chr3:195683600-195711800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:195684200-195711800	Strong transcription	Placenta	Placenta
4	chr3:195685800-195716600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:195686400-195710800	Weak transcription	Small Intestine	intestine
6	chr3:195688800-195712200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:195694800-195712000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:195694800-195712000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:195695000-195712000	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:195696200-195712000	Strong transcription	Gastric	stomach
11	chr3:195697400-195717600	Weak transcription	Fetal Heart	heart
12	chr3:195697600-195716600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:195698000-195715400	Weak transcription	Hela-S3	cervix
14	chr3:195698000-195715800	Weak transcription	Fetal Lung	lung
15	chr3:195698000-195715800	Weak transcription	HUVEC	blood vessel
16	chr3:195698000-195716400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:195698000-195716400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:195698000-195716400	Weak transcription	Primary B cells from cord blood	blood
19	chr3:195698000-195716400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:195698000-195717400	Weak transcription	Fetal Brain Male	brain
21	chr3:195698000-195717400	Weak transcription	Stomach Mucosa	stomach
22	chr3:195698200-195716400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:195698400-195715800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:195698600-195717200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr3:195699000-195716600	Weak transcription	NHDF-Ad	bronchial
26	chr3:195700400-195711400	Strong transcription	Left Ventricle	heart
27	chr3:195700400-195711800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:195700400-195711800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:195700400-195712000	Strong transcription	Dnd41	blood
30	chr3:195701400-195710800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:195703000-195715600	Weak transcription	A549	lung
32	chr3:195703000-195716400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr3:195703000-195716400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:195703000-195716400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:195703000-195716600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:195703200-195715400	Weak transcription	Primary T cells from cord blood	blood
37	chr3:195703200-195715600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:195703200-195715600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:195703400-195715800	Weak transcription	HMEC	breast
40	chr3:195703600-195715600	Weak transcription	Colonic Mucosa	Colon
41	chr3:195703800-195711200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr3:195703800-195713600	Weak transcription	Colon Smooth Muscle	Colon
43	chr3:195703800-195715800	Weak transcription	HSMM	muscle
44	chr3:195705200-195712000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr3:195705200-195716400	Weak transcription	Brain Angular Gyrus	brain
46	chr3:195706200-195711800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:195707000-195711400	Weak transcription	Brain Germinal Matrix	brain
48	chr3:195707000-195711800	Strong transcription	Osteobl	bone
49	chr3:195707000-195715800	Weak transcription	NH-A	brain
50	chr3:195708000-195711600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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