Variant report

Variant	esv3419436
Chromosome Location	chr3:75826730-75828016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533807574	chr3:75826761-75826762	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192880435	chr3:75826762-75826763	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566906683	chr3:75826772-75826773	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112135326	chr3:75826773-75826774	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62269666	chr3:75826777-75826778	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78754318	chr3:75826780-75826781	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555980227	chr3:75826786-75826787	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376791647	chr3:75826807-75826808	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538363813	chr3:75826808-75826809	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558335243	chr3:75826819-75826820	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145854423	chr3:75826826-75826827	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540914452	chr3:75826831-75826832	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562398116	chr3:75826832-75826833	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573950693	chr3:75826839-75826840	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544635840	chr3:75826856-75826857	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562748137	chr3:75826866-75826867	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369706049	chr3:75826867-75826868	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185276958	chr3:75826895-75826896	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145352269	chr3:75826902-75826903	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142314706	chr3:75826913-75826914	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557121050	chr3:75826914-75826915	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200670907	chr3:75826937-75826938	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112044558	chr3:75826948-75826949	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201945434	chr3:75826970-75826971	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200022481	chr3:75826972-75826973	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548843549	chr3:75827005-75827006	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200947321	chr3:75827009-75827010	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567597238	chr3:75827014-75827015	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531196638	chr3:75827022-75827023	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113805711	chr3:75827023-75827024	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567080251	chr3:75827040-75827041	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371967389	chr3:75827041-75827042	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201387021	chr3:75827045-75827046	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570448660	chr3:75827051-75827052	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549707465	chr3:75827068-75827069	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571156494	chr3:75827075-75827076	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538696311	chr3:75827076-75827077	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188740279	chr3:75827110-75827111	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115558945	chr3:75827111-75827112	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534443761	chr3:75827114-75827115	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191937172	chr3:75827121-75827122	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76620302	chr3:75827147-75827148	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574235061	chr3:75827157-75827158	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77286136	chr3:75827158-75827159	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200009369	chr3:75827192-75827193	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112926774	chr3:75827201-75827202	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200938022	chr3:75827216-75827217	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201890756	chr3:75827231-75827232	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552622265	chr3:75827252-75827253	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184733810	chr3:75827253-75827254	ZNF genes & repeats Weak transcription Strong transcription Enhancers	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75796800-75832800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:75805400-75830000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:75818400-75833800	Weak transcription	Right Ventricle	heart
4	chr3:75818800-75828000	Weak transcription	Brain Anterior Caudate	brain
5	chr3:75820000-75833800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:75820400-75831600	Weak transcription	HSMMtube	muscle
7	chr3:75821600-75827200	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:75821600-75831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:75821800-75833600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:75822000-75827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:75822000-75827000	Weak transcription	Spleen	Spleen
12	chr3:75822000-75827200	Weak transcription	Gastric	stomach
13	chr3:75822000-75828200	Weak transcription	Aorta	Aorta
14	chr3:75822000-75828400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:75822000-75833600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:75822200-75831600	Weak transcription	NHLF	lung
17	chr3:75822400-75827600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:75824000-75830600	ZNF genes & repeats	Liver	Liver
19	chr3:75824200-75831600	Weak transcription	Osteobl	bone
20	chr3:75824400-75831600	Weak transcription	Colonic Mucosa	Colon
21	chr3:75824400-75833600	Weak transcription	NHDF-Ad	bronchial
22	chr3:75825000-75827600	Weak transcription	Fetal Stomach	stomach
23	chr3:75825000-75831600	Weak transcription	Fetal Heart	heart
24	chr3:75825200-75828000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:75825200-75829600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:75825400-75830800	Strong transcription	Ovary	ovary
27	chr3:75825600-75827200	Weak transcription	A549	lung
28	chr3:75825600-75827400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
29	chr3:75825600-75828600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:75825600-75832400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr3:75825600-75832400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr3:75825800-75826800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr3:75825800-75826800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
34	chr3:75825800-75826800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
35	chr3:75825800-75826800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr3:75825800-75826800	ZNF genes & repeats	NHEK	skin
37	chr3:75825800-75827000	ZNF genes & repeats	HSMM	muscle
38	chr3:75825800-75827200	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr3:75825800-75827800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:75825800-75827800	ZNF genes & repeats	Brain Substantia Nigra	brain
41	chr3:75825800-75827800	ZNF genes & repeats	Fetal Kidney	kidney
42	chr3:75825800-75828000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
43	chr3:75825800-75828800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr3:75825800-75828800	ZNF genes & repeats	Fetal Intestine Large	intestine
45	chr3:75825800-75829000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:75825800-75829200	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr3:75825800-75829400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
48	chr3:75825800-75829600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
49	chr3:75825800-75829600	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr3:75825800-75830400	ZNF genes & repeats	Adipose Nuclei	Adipose

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