Variant report

Variant	esv2522667
Chromosome Location	chr3:195675578-195675578
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	chr3:195673861..195675995-chr5:278201..279705,3	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 81 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78754697	chr3:195675578-195675579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195647200-195681200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:195648600-195680600	Weak transcription	Pancreas	Pancrea
3	chr3:195656600-195681000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:195656800-195676400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:195656800-195679400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:195657800-195681400	Weak transcription	GM12878-XiMat	blood
7	chr3:195659000-195676400	Weak transcription	Hela-S3	cervix
8	chr3:195659600-195681200	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:195659600-195685600	Weak transcription	Small Intestine	intestine
10	chr3:195660000-195681200	Weak transcription	Colonic Mucosa	Colon
11	chr3:195660400-195680600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:195660600-195681200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:195661200-195681000	Weak transcription	Ovary	ovary
14	chr3:195661800-195681200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:195663400-195681200	Weak transcription	Left Ventricle	heart
16	chr3:195663600-195681000	Weak transcription	Fetal Brain Female	brain
17	chr3:195663600-195681200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:195663600-195681200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:195663800-195682000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:195664400-195681200	Weak transcription	Osteobl	bone
21	chr3:195665000-195681200	Weak transcription	Placenta	Placenta
22	chr3:195665200-195677800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:195665200-195691800	Weak transcription	HSMMtube	muscle
24	chr3:195665400-195681400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:195665400-195685200	Weak transcription	Aorta	Aorta
26	chr3:195666000-195677200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:195666000-195677800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:195667200-195681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:195667400-195677200	Weak transcription	Gastric	stomach
30	chr3:195667400-195677200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr3:195667400-195680800	Weak transcription	Right Ventricle	heart
32	chr3:195667400-195681200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:195667400-195681200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:195667400-195681200	Weak transcription	Brain Anterior Caudate	brain
35	chr3:195667400-195681200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:195667400-195681200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr3:195667400-195681200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:195667400-195681400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr3:195667400-195681400	Weak transcription	Brain Substantia Nigra	brain
40	chr3:195667400-195684200	Weak transcription	Spleen	Spleen
41	chr3:195667400-195686200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr3:195667600-195677600	Weak transcription	Primary T cells from cord blood	blood
43	chr3:195667600-195680200	Weak transcription	Fetal Stomach	stomach
44	chr3:195667600-195681200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:195667600-195681200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:195667600-195681200	Weak transcription	Esophagus	oesophagus
47	chr3:195667600-195681400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:195667600-195681600	Weak transcription	Fetal Intestine Large	intestine
49	chr3:195667800-195681200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:195668000-195681200	Weak transcription	Lung	lung

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