Variant report

Variant	nsv1012669
Chromosome Location	chr3:105290140-105321201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location
1	ALCAM	hsa-miR-192-5p	chr3:105293508-105293529
2	ALCAM	hsa-miR-192-5p	chr3:105291010-105291016
3	ALCAM	hsa-miR-215-5p	chr3:105293508-105293529
4	ALCAM	hsa-miR-215-5p	chr3:105291010-105291016

Extended variants
information (count: 1236 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1236 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562960	chr3:105290140-105290141	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565812989	chr3:105290173-105290174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117583425	chr3:105290214-105290215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556223117	chr3:105290246-105290247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72989943	chr3:105290268-105290269	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569684644	chr3:105290270-105290271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538493502	chr3:105290290-105290291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191318146	chr3:105290308-105290309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150637283	chr3:105290358-105290359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183077234	chr3:105290400-105290401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138907214	chr3:105290416-105290417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572534620	chr3:105290467-105290468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542725513	chr3:105290521-105290522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs645676	chr3:105290528-105290529	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2291374	chr3:105290562-105290563	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543275287	chr3:105290563-105290564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565226309	chr3:105290577-105290578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149403598	chr3:105290581-105290582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201798571	chr3:105290686-105290687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147584537	chr3:105290775-105290776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376997833	chr3:105290788-105290789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565623927	chr3:105290792-105290793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370447081	chr3:105290795-105290796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114821091	chr3:105290847-105290848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548327767	chr3:105290894-105290895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569630328	chr3:105290926-105290927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548398218	chr3:105290930-105290931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186716342	chr3:105290956-105290957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571935475	chr3:105290970-105290971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370862919	chr3:105290979-105290980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112415260	chr3:105291026-105291027	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs538840546	chr3:105291055-105291056	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75144918	chr3:105291084-105291085	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191555581	chr3:105291101-105291102	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs572325363	chr3:105291165-105291166	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs147547166	chr3:105291188-105291189	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs140204088	chr3:105291195-105291196	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs145614605	chr3:105291196-105291197	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs183015298	chr3:105291235-105291236	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs561663276	chr3:105291239-105291240	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs565013081	chr3:105291322-105291323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs577103554	chr3:105291330-105291331	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs575338087	chr3:105291343-105291344	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs566810934	chr3:105291351-105291352	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs559471433	chr3:105291385-105291386	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs147355793	chr3:105291386-105291387	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs13315918	chr3:105291440-105291441	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs148397895	chr3:105291457-105291458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549136408	chr3:105291468-105291469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567500155	chr3:105291476-105291477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105242000-105293600	Weak transcription	Lung	lung
3	chr3:105248400-105291200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:105260800-105297000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:105260800-105299800	Weak transcription	Pancreas	Pancrea
6	chr3:105263000-105295400	Weak transcription	Brain Angular Gyrus	brain
7	chr3:105267600-105293800	Weak transcription	Brain Anterior Caudate	brain
8	chr3:105268400-105297800	Weak transcription	NHLF	lung
9	chr3:105271600-105297000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:105271600-105303000	Weak transcription	Aorta	Aorta
11	chr3:105272000-105291200	Weak transcription	Brain Substantia Nigra	brain
12	chr3:105272200-105312800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:105272400-105302800	Weak transcription	NHEK	skin
14	chr3:105273000-105295200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:105273200-105292200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:105273200-105294000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:105273200-105295800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:105273200-105303000	Weak transcription	HMEC	breast
19	chr3:105273400-105292800	Weak transcription	Ovary	ovary
20	chr3:105273400-105297600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:105273400-105297600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:105273400-105299800	Weak transcription	NHDF-Ad	bronchial
23	chr3:105273800-105291000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:105273800-105297400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:105274000-105291200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:105274000-105303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:105274600-105293400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr3:105277200-105299200	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:105278600-105290800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:105278600-105297000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:105278600-105297400	Weak transcription	GM12878-XiMat	blood
32	chr3:105278800-105290600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:105278800-105290800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:105284000-105295600	Weak transcription	Fetal Intestine Small	intestine
35	chr3:105284200-105290200	Weak transcription	Fetal Intestine Large	intestine
36	chr3:105285000-105290400	Weak transcription	NH-A	brain
37	chr3:105285200-105295600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr3:105286200-105290600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:105286400-105297600	Weak transcription	HUVEC	blood vessel
40	chr3:105287800-105292000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr3:105288600-105297000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:105289200-105291400	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr3:105289200-105291800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:105289400-105292000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:105289400-105293600	Weak transcription	HSMM	muscle
46	chr3:105289400-105294400	Strong transcription	Liver	Liver
47	chr3:105289400-105296000	Strong transcription	Osteobl	bone
48	chr3:105289800-105291200	Strong transcription	Primary B cells from cord blood	blood
49	chr3:105290000-105291000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:105290400-105291600	Strong transcription	NH-A	brain

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