Variant report

Variant	nsv963364
Chromosome Location	chr3:141644501-141645001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ATP1B3	hsa-miR-7-5p	chr3:141644570-141644592
2	ATP1B3	hsa-miR-7-5p	chr3:141644664-141644688

Extended variants
information (count: 22 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141791067	chr3:141644512-141644513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147061053	chr3:141644524-141644525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201624810	chr3:141644554-141644555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377601541	chr3:141644589-141644590	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
5	rs141681330	chr3:141644602-141644603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571294149	chr3:141644615-141644616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150125094	chr3:141644624-141644625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576509089	chr3:141644693-141644694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544374450	chr3:141644724-141644725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562577490	chr3:141644773-141644774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11844	chr3:141644774-141644775	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542099317	chr3:141644792-141644793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13577	chr3:141644796-141644797	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35283993	chr3:141644802-141644803	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1050190	chr3:141644808-141644809	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs551931953	chr3:141644829-141644830	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572681656	chr3:141644859-141644860	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374120794	chr3:141644862-141644863	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541300918	chr3:141644863-141644864	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149766785	chr3:141644889-141644890	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564184837	chr3:141644950-141644951	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11539486	chr3:141644997-141644998	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141597000-141646400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:141616200-141646600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:141616200-141648600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:141620800-141646800	Weak transcription	Gastric	stomach
5	chr3:141621000-141646600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:141621000-141670800	Weak transcription	Small Intestine	intestine
7	chr3:141622000-141645000	Strong transcription	Dnd41	blood
8	chr3:141622000-141647600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:141622400-141647000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:141622600-141644800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:141623600-141652400	Strong transcription	Fetal Thymus	thymus
12	chr3:141624600-141649200	Weak transcription	Brain Substantia Nigra	brain
13	chr3:141625600-141647200	Weak transcription	Liver	Liver
14	chr3:141625600-141668400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:141626600-141659000	Weak transcription	Pancreas	Pancrea
16	chr3:141627400-141646600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:141627600-141646400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:141627600-141649200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr3:141627800-141652600	Weak transcription	Brain Anterior Caudate	brain
20	chr3:141628200-141673600	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:141628600-141646400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:141628600-141658800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:141628600-141669000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr3:141628800-141646000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr3:141628800-141669800	Weak transcription	Fetal Lung	lung
26	chr3:141628800-141674000	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:141629000-141739200	Weak transcription	Psoas Muscle	Psoas
28	chr3:141630000-141647000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr3:141630600-141647400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:141630600-141647400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:141631200-141647600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr3:141632000-141647400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:141632000-141648800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:141632200-141645000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:141632200-141647800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:141632200-141648000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:141632400-141654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:141633000-141659000	Weak transcription	NHLF	lung
39	chr3:141633600-141648000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:141633800-141646000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:141634200-141648600	Weak transcription	Aorta	Aorta
42	chr3:141634200-141682000	Weak transcription	Brain Angular Gyrus	brain
43	chr3:141634400-141648600	Weak transcription	Fetal Kidney	kidney
44	chr3:141634400-141656600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr3:141635400-141646400	Weak transcription	Primary B cells from cord blood	blood
46	chr3:141635400-141648200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:141635400-141648600	Strong transcription	Fetal Intestine Large	intestine
48	chr3:141635600-141644600	Strong transcription	Fetal Intestine Small	intestine
49	chr3:141635600-141645000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:141635600-141645000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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