Variant report

Variant	esv3331562
Chromosome Location	chr3:75794248-75801400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 517 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371516849	chr3:75794256-75794257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79317391	chr3:75794257-75794258	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377260825	chr3:75794258-75794259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79581064	chr3:75794259-75794260	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78993965	chr3:75794260-75794261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79052124	chr3:75794261-75794262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80044301	chr3:75794262-75794263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76455819	chr3:75794263-75794264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369776097	chr3:75794298-75794299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200606439	chr3:75794304-75794305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200180363	chr3:75794307-75794308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200794557	chr3:75794308-75794309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200231423	chr3:75794313-75794314	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201141615	chr3:75794318-75794319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199758245	chr3:75794319-75794320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73117258	chr3:75794323-75794324	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369221920	chr3:75794360-75794361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112326415	chr3:75794370-75794371	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138043685	chr3:75794381-75794382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77414724	chr3:75794401-75794402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139575309	chr3:75794403-75794404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375524520	chr3:75794430-75794431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75313708	chr3:75794439-75794440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115653339	chr3:75794449-75794450	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55742774	chr3:75794494-75794495	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs386662603	chr3:75794537-75794538	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150237603	chr3:75794547-75794548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76849443	chr3:75794551-75794552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74194585	chr3:75794558-75794559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140808933	chr3:75794567-75794568	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189159805	chr3:75794587-75794588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76557605	chr3:75794607-75794608	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76617152	chr3:75794610-75794611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528760324	chr3:75794613-75794614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80256898	chr3:75794616-75794617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78989029	chr3:75794623-75794624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77343539	chr3:75794627-75794628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77559667	chr3:75794630-75794631	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3009105	chr3:75794640-75794641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76776969	chr3:75794669-75794670	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78034451	chr3:75794675-75794676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145559580	chr3:75794681-75794682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144234087	chr3:75794703-75794704	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141975213	chr3:75794704-75794705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145258599	chr3:75794705-75794706	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201973709	chr3:75794707-75794708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74844633	chr3:75794708-75794709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116135252	chr3:75794719-75794720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201572352	chr3:75794730-75794731	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202171053	chr3:75794732-75794733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	22522925	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75757800-75794800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:75763800-75794800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr3:75765400-75811200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:75766200-75809000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr3:75771800-75804000	ZNF genes & repeats	Liver	Liver
6	chr3:75772800-75804000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr3:75773600-75794400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr3:75774400-75794800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr3:75774600-75795800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr3:75775400-75794400	ZNF genes & repeats	Aorta	Aorta
11	chr3:75780800-75794400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr3:75783400-75794400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
13	chr3:75784000-75794400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
14	chr3:75784000-75795600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr3:75784000-75795600	ZNF genes & repeats	Left Ventricle	heart
16	chr3:75784200-75794400	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr3:75784200-75794400	ZNF genes & repeats	Brain Hippocampus Middle	brain
18	chr3:75784200-75794600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
19	chr3:75784200-75794600	ZNF genes & repeats	Colon Smooth Muscle	Colon
20	chr3:75784200-75794600	ZNF genes & repeats	Ovary	ovary
21	chr3:75784200-75794600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
22	chr3:75784200-75794800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
23	chr3:75784200-75794800	ZNF genes & repeats	Brain Anterior Caudate	brain
24	chr3:75784200-75794800	ZNF genes & repeats	Brain Substantia Nigra	brain
25	chr3:75784200-75794800	ZNF genes & repeats	Fetal Lung	lung
26	chr3:75784200-75794800	ZNF genes & repeats	Psoas Muscle	Psoas
27	chr3:75784200-75797000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:75784400-75794400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr3:75784400-75794400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:75784400-75794400	ZNF genes & repeats	Right Atrium	heart
31	chr3:75784400-75794600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:75784400-75795000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:75791200-75801000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:75791800-75795600	ZNF genes & repeats	Fetal Heart	heart
35	chr3:75792600-75794400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
36	chr3:75793600-75794400	ZNF genes & repeats	Pancreas	Pancrea
37	chr3:75794400-75798000	Weak transcription	Pancreas	Pancrea
38	chr3:75795000-75798000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:75795200-75798000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:75795600-75797800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:75795600-75797800	Weak transcription	Left Ventricle	heart
42	chr3:75795600-75798000	Weak transcription	Fetal Heart	heart
43	chr3:75795800-75798000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:75796200-75798000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:75796600-75796800	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr3:75796600-75797000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
47	chr3:75796800-75798200	Weak transcription	Fetal Intestine Large	intestine
48	chr3:75796800-75832800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:75797000-75797800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:75797600-75800200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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