Variant report

Variant	esv3382319
Chromosome Location	chr3:75817433-75818163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560002662	chr3:75817437-75817438	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528677233	chr3:75817456-75817457	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546904312	chr3:75817457-75817458	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112988368	chr3:75817469-75817470	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71627482	chr3:75817511-75817512	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71101853	chr3:75817523-75817524	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562389078	chr3:75817577-75817578	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529574782	chr3:75817587-75817588	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551316085	chr3:75817604-75817605	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189250120	chr3:75817636-75817637	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569226893	chr3:75817649-75817650	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539850626	chr3:75817681-75817682	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551894713	chr3:75817693-75817694	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376037831	chr3:75817708-75817709	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561810824	chr3:75817740-75817741	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369035208	chr3:75817771-75817772	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373159457	chr3:75817784-75817785	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559671374	chr3:75817805-75817806	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369925285	chr3:75817806-75817807	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533968061	chr3:75817813-75817814	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555308800	chr3:75817814-75817815	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192576852	chr3:75817819-75817820	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537720156	chr3:75817827-75817828	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112697730	chr3:75817874-75817875	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111295199	chr3:75817878-75817879	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556044809	chr3:75817885-75817886	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577179776	chr3:75817889-75817890	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544647223	chr3:75817892-75817893	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553831224	chr3:75817893-75817894	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112375599	chr3:75817918-75817919	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs542721617	chr3:75817920-75817921	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562110357	chr3:75817935-75817936	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7431564	chr3:75817948-75817949	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544877428	chr3:75817960-75817961	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140340534	chr3:75818025-75818026	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563213636	chr3:75818064-75818065	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199905246	chr3:75818066-75818067	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533361013	chr3:75818076-75818077	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56032654	chr3:75818082-75818083	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs62268122	chr3:75818092-75818093	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148310216	chr3:75818112-75818113	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549478931	chr3:75818125-75818126	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184795029	chr3:75818130-75818131	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537660578	chr3:75818132-75818133	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112085023	chr3:75818154-75818155	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75796800-75832800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:75805400-75819800	Weak transcription	HSMMtube	muscle
3	chr3:75805400-75830000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:75808800-75820600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:75810400-75823000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr3:75811400-75823000	ZNF genes & repeats	Liver	Liver
7	chr3:75812200-75825800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:75813000-75818600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr3:75813000-75818600	ZNF genes & repeats	Ovary	ovary
10	chr3:75813000-75823200	ZNF genes & repeats	Fetal Intestine Large	intestine
11	chr3:75813800-75817600	Weak transcription	Left Ventricle	heart
12	chr3:75813800-75820200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:75814000-75820600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:75815000-75820800	Weak transcription	Brain Angular Gyrus	brain
15	chr3:75815600-75817800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:75816200-75817600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
17	chr3:75816200-75818600	ZNF genes & repeats	Aorta	Aorta
18	chr3:75816200-75818600	ZNF genes & repeats	Lung	lung
19	chr3:75816200-75818600	ZNF genes & repeats	Pancreas	Pancrea
20	chr3:75816200-75818600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
21	chr3:75816200-75818600	ZNF genes & repeats	Spleen	Spleen
22	chr3:75816200-75818800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:75816200-75818800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:75816200-75822400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr3:75816200-75823200	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr3:75816400-75817800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
27	chr3:75816400-75818200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:75816400-75818200	Strong transcription	Fetal Muscle Leg	muscle
29	chr3:75816400-75818400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:75816400-75818600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr3:75816400-75818600	ZNF genes & repeats	Esophagus	oesophagus
32	chr3:75816400-75818600	ZNF genes & repeats	Fetal Stomach	stomach
33	chr3:75816400-75818800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:75816400-75820600	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:75816400-75820800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:75816600-75818600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:75816600-75820600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:75816800-75817600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:75816800-75817600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:75816800-75818000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:75816800-75818200	Weak transcription	Brain Anterior Caudate	brain
42	chr3:75816800-75818200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:75816800-75818800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:75816800-75820600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:75816800-75820800	Weak transcription	Brain Substantia Nigra	brain
46	chr3:75817000-75817800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr3:75817000-75820600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:75817000-75825600	Weak transcription	K562	blood
49	chr3:75817200-75818000	ZNF genes & repeats	Brain Germinal Matrix	brain
50	chr3:75817200-75818200	ZNF genes & repeats	NHLF	lung

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