Variant report

Variant	esv2241639
Chromosome Location	chr3:75827723-75828102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543681722	chr3:75827741-75827742	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565082220	chr3:75827742-75827743	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532138951	chr3:75827743-75827744	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547378715	chr3:75827747-75827748	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559395051	chr3:75827788-75827789	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372923811	chr3:75827794-75827795	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540754944	chr3:75827802-75827803	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34827303	chr3:75827804-75827805	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532588638	chr3:75827805-75827806	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552538031	chr3:75827812-75827813	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567834168	chr3:75827814-75827815	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78505788	chr3:75827822-75827823	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535246125	chr3:75827831-75827832	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113014345	chr3:75827832-75827833	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550445710	chr3:75827833-75827834	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571647106	chr3:75827849-75827850	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138514900	chr3:75827860-75827861	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4974328	chr3:75827876-75827877	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs553700253	chr3:75827880-75827881	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572128238	chr3:75827895-75827896	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189740884	chr3:75827902-75827903	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62269667	chr3:75827909-75827910	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576184208	chr3:75827912-75827913	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543296453	chr3:75827919-75827920	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200280030	chr3:75827922-75827923	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565100185	chr3:75827923-75827924	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577163476	chr3:75827934-75827935	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541359049	chr3:75827943-75827944	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559358890	chr3:75827950-75827951	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529750267	chr3:75827953-75827954	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141529974	chr3:75827955-75827956	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373125994	chr3:75827964-75827965	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150175140	chr3:75827965-75827966	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550065103	chr3:75827968-75827969	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571507986	chr3:75827969-75827970	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538914986	chr3:75827970-75827971	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138629171	chr3:75827976-75827977	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181223878	chr3:75827988-75827989	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201434821	chr3:75828001-75828002	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199672619	chr3:75828004-75828005	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555039486	chr3:75828020-75828021	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536017002	chr3:75828025-75828026	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186247415	chr3:75828026-75828027	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552685581	chr3:75828075-75828076	ZNF genes & repeats Weak transcription Strong 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:97 , 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	chr3:75805400-75830000	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	chr3:75821600-75831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:75821800-75833600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:75822000-75828200	Weak transcription	Aorta	Aorta
10	chr3:75822000-75828400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:75822000-75833600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:75822200-75831600	Weak transcription	NHLF	lung
13	chr3:75824000-75830600	ZNF genes & repeats	Liver	Liver
14	chr3:75824200-75831600	Weak transcription	Osteobl	bone
15	chr3:75824400-75831600	Weak transcription	Colonic Mucosa	Colon
16	chr3:75824400-75833600	Weak transcription	NHDF-Ad	bronchial
17	chr3:75825000-75831600	Weak transcription	Fetal Heart	heart
18	chr3:75825200-75828000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:75825200-75829600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:75825400-75830800	Strong transcription	Ovary	ovary
21	chr3:75825600-75828600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:75825600-75832400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr3:75825600-75832400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr3:75825800-75827800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:75825800-75827800	ZNF genes & repeats	Brain Substantia Nigra	brain
26	chr3:75825800-75827800	ZNF genes & repeats	Fetal Kidney	kidney
27	chr3:75825800-75828000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
28	chr3:75825800-75828800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr3:75825800-75828800	ZNF genes & repeats	Fetal Intestine Large	intestine
30	chr3:75825800-75829000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:75825800-75829200	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr3:75825800-75829400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
33	chr3:75825800-75829600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr3:75825800-75829600	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr3:75825800-75830400	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr3:75825800-75831600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:75825800-75832200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr3:75825800-75832800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:75826000-75829600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
40	chr3:75826000-75831600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:75826000-75832400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr3:75826000-75832400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr3:75826200-75829000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr3:75826200-75829600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
45	chr3:75826200-75830600	ZNF genes & repeats	Fetal Lung	lung
46	chr3:75826400-75828400	ZNF genes & repeats	Pancreas	Pancrea
47	chr3:75826400-75828800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
48	chr3:75826400-75829200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
49	chr3:75826400-75831600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr3:75826600-75827800	Enhancers	K562	blood

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