Variant report

Variant	esv3425123
Chromosome Location	chr3:145908612-145910910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:10)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:145883004..145884526-chr3:145908906..145911614,2	MCF-7	breast:

No data

(count:10 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PLSCR4	hsa-miR-16-5p	chr3:145910623-145910644
2	PLSCR4	hsa-miR-16-5p	chr3:145910629-145910622
3	PLSCR4	hsa-miR-15b-5p	chr3:145910623-145910644
4	PLSCR4	hsa-miR-124-3p	chr3:145910564-145910583
5	PLSCR4	hsa-miR-15b-5p	chr3:145910585-145910606
6	PLSCR4	hsa-miR-15b-5p	chr3:145910793-145910815
7	PLSCR4	hsa-miR-16-5p	chr3:145910796-145910817
8	PLSCR4	hsa-miR-103a-3p	chr3:145910624-145910647
9	PLSCR4	hsa-miR-16-5p	chr3:145910585-145910607
10	PLSCR4	hsa-miR-15b-5p	chr3:145910629-145910622

Extended variants
information (count: 89 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150379316	chr3:145908666-145908667	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73865344	chr3:145908713-145908714	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185969505	chr3:145908741-145908742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529163772	chr3:145908745-145908746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374730637	chr3:145908766-145908767	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531606198	chr3:145908809-145908810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549636646	chr3:145908824-145908825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367901556	chr3:145909088-145909089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73865345	chr3:145909109-145909110	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529068087	chr3:145909116-145909117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547302464	chr3:145909127-145909128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115183520	chr3:145909129-145909130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7640966	chr3:145909152-145909153	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190040926	chr3:145909187-145909188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547145198	chr3:145909189-145909190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569626482	chr3:145909210-145909211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537069456	chr3:145909259-145909260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556863312	chr3:145909294-145909295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201099451	chr3:145909307-145909308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565582535	chr3:145909422-145909423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112049243	chr3:145909443-145909444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200009485	chr3:145909488-145909489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7611160	chr3:145909491-145909492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61463353	chr3:145909492-145909493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201141108	chr3:145909493-145909494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377419307	chr3:145909494-145909495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9817268	chr3:145909525-145909526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56019841	chr3:145909526-145909527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56960735	chr3:145909527-145909528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56854942	chr3:145909528-145909529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537484002	chr3:145909553-145909554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554119954	chr3:145909585-145909586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186070658	chr3:145909604-145909605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7643850	chr3:145909605-145909606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35525399	chr3:145909616-145909617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572493560	chr3:145909682-145909683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545852785	chr3:145909690-145909691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35209044	chr3:145909694-145909695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564262377	chr3:145909697-145909698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575994015	chr3:145909699-145909700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539910224	chr3:145909718-145909719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35978826	chr3:145909760-145909761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561993318	chr3:145909781-145909782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529218910	chr3:145909782-145909783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35157830	chr3:145909791-145909792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35139524	chr3:145909808-145909809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182912122	chr3:145909827-145909828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28427219	chr3:145909885-145909886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9821609	chr3:145909887-145909888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28673106	chr3:145909899-145909900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145880800-145914400	Weak transcription	Left Ventricle	heart
2	chr3:145883000-145913000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:145884800-145910800	Weak transcription	Liver	Liver
4	chr3:145895800-145918200	Weak transcription	NHDF-Ad	bronchial
5	chr3:145896000-145910600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:145896400-145910800	Weak transcription	Fetal Lung	lung
7	chr3:145896600-145911200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:145897000-145933600	Weak transcription	Fetal Stomach	stomach
9	chr3:145899600-145917400	Weak transcription	Pancreas	Pancrea
10	chr3:145901000-145923800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:145902000-145912000	Weak transcription	Fetal Intestine Large	intestine
12	chr3:145902800-145912400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:145902800-145923000	Weak transcription	Osteobl	bone
14	chr3:145902800-145923600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:145903000-145934800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:145903800-145911800	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:145904000-145911800	Weak transcription	Fetal Heart	heart
18	chr3:145904800-145912600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:145905000-145933600	Weak transcription	NHLF	lung
20	chr3:145906400-145914600	Weak transcription	Fetal Brain Male	brain
21	chr3:145907000-145938600	Weak transcription	Fetal Intestine Small	intestine
22	chr3:145907400-145910800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:145907400-145912000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:145907400-145913000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:145907400-145914400	Weak transcription	Psoas Muscle	Psoas
26	chr3:145907400-145918200	Weak transcription	HepG2	liver
27	chr3:145907600-145908800	Enhancers	HUVEC	blood vessel
28	chr3:145907600-145913200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:145907600-145915000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:145907600-145939200	Weak transcription	Brain Anterior Caudate	brain
31	chr3:145907800-145909200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:145907800-145911400	Weak transcription	Fetal Kidney	kidney
33	chr3:145908200-145910800	Weak transcription	Adipose Nuclei	Adipose
34	chr3:145908200-145936400	Weak transcription	A549	lung
35	chr3:145908400-145917400	Weak transcription	Ovary	ovary
36	chr3:145908600-145914400	Weak transcription	Aorta	Aorta
37	chr3:145908800-145911400	Weak transcription	HUVEC	blood vessel
38	chr3:145909200-145910800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:145909200-145911800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:145909400-145912600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:145909600-145939200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:145909800-145912000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:145910400-145932400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:145910400-145940000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:145910600-145913000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:145910800-145913000	Strong transcription	Adipose Nuclei	Adipose
47	chr3:145910800-145913000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr3:145910800-145913200	Strong transcription	Fetal Lung	lung
49	chr3:145910800-145913600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:145910800-145914800	Strong transcription	Liver	Liver

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