Variant report

Variant	nsv967112
Chromosome Location	chr3:75812759-75817123
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	chr3:75804459..75806623-chr3:75811168..75814143,2	K562	blood:

Extended variants
information (count: 377 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368989950	chr3:75812774-75812775	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536222373	chr3:75812780-75812781	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373876350	chr3:75812789-75812790	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59288254	chr3:75812797-75812798	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79594272	chr3:75812839-75812840	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200955569	chr3:75812847-75812848	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75762775	chr3:75812887-75812888	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75569755	chr3:75812893-75812894	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201049862	chr3:75812896-75812897	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111403502	chr3:75812913-75812914	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79839132	chr3:75812924-75812925	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201778552	chr3:75812928-75812929	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576002751	chr3:75812955-75812956	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200666146	chr3:75812967-75812968	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527677836	chr3:75813000-75813001	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77089362	chr3:75813002-75813003	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549421142	chr3:75813012-75813013	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543125250	chr3:75813057-75813058	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144799326	chr3:75813072-75813073	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188443690	chr3:75813106-75813107	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202097183	chr3:75813110-75813111	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192673034	chr3:75813120-75813121	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370281115	chr3:75813133-75813134	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376904368	chr3:75813145-75813146	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560768047	chr3:75813148-75813149	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377342680	chr3:75813172-75813173	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112658103	chr3:75813194-75813195	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113061587	chr3:75813197-75813198	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111296362	chr3:75813209-75813210	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200833151	chr3:75813221-75813222	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60391930	chr3:75813226-75813227	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538080818	chr3:75813236-75813237	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367956944	chr3:75813246-75813247	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561093797	chr3:75813249-75813250	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145562643	chr3:75813254-75813255	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531733157	chr3:75813289-75813290	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201807374	chr3:75813294-75813295	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113129854	chr3:75813296-75813297	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185417750	chr3:75813323-75813324	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115208292	chr3:75813329-75813330	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188287618	chr3:75813332-75813333	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141039806	chr3:75813342-75813343	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67836234	chr3:75813348-75813349	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs143117023	chr3:75813374-75813375	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367866784	chr3:75813388-75813389	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569505382	chr3:75813426-75813427	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537055168	chr3:75813431-75813432	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368266453	chr3:75813434-75813435	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191969902	chr3:75813470-75813471	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150744109	chr3:75813472-75813473	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:146 , 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	chr3:75805400-75819800	Weak transcription	HSMMtube	muscle
3	chr3:75805400-75830000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:75808200-75813000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:75808200-75814600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:75808200-75814600	Weak transcription	Right Ventricle	heart
7	chr3:75808400-75813200	Weak transcription	Fetal Kidney	kidney
8	chr3:75808800-75812800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:75808800-75820600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:75809000-75813000	Weak transcription	Ovary	ovary
11	chr3:75810000-75812800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:75810400-75813600	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr3:75810400-75823000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr3:75811200-75816200	Weak transcription	Pancreas	Pancrea
15	chr3:75811400-75813200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:75811400-75813800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr3:75811400-75823000	ZNF genes & repeats	Liver	Liver
18	chr3:75811600-75813000	Weak transcription	Fetal Intestine Small	intestine
19	chr3:75811600-75813200	Weak transcription	Fetal Stomach	stomach
20	chr3:75811600-75813200	Weak transcription	Left Ventricle	heart
21	chr3:75811600-75813200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:75811600-75813800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
23	chr3:75812000-75813600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:75812000-75813800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:75812200-75813000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:75812200-75816000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr3:75812200-75825800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr3:75812800-75813600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:75812800-75814200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:75813000-75813400	ZNF genes & repeats	Primary T cells from cord blood	blood
31	chr3:75813000-75813600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
32	chr3:75813000-75813600	ZNF genes & repeats	Aorta	Aorta
33	chr3:75813000-75813600	ZNF genes & repeats	Brain Hippocampus Middle	brain
34	chr3:75813000-75813600	ZNF genes & repeats	Fetal Brain Female	brain
35	chr3:75813000-75813600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
36	chr3:75813000-75813800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:75813000-75813800	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr3:75813000-75813800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
39	chr3:75813000-75814000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:75813000-75814000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:75813000-75814000	ZNF genes & repeats	Primary B cells from cord blood	blood
42	chr3:75813000-75814000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
43	chr3:75813000-75814200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:75813000-75815000	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr3:75813000-75818600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr3:75813000-75818600	ZNF genes & repeats	Ovary	ovary
47	chr3:75813000-75823200	ZNF genes & repeats	Fetal Intestine Large	intestine
48	chr3:75813200-75813400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
49	chr3:75813200-75813600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:75813200-75813600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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