Variant report

Variant	esv3370713
Chromosome Location	chr3:138335862-138337460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138326609..138328476-chr3:138335701..138339758,3	MCF-7	breast:
2	chr3:137908958..137910626-chr3:138333368..138336043,2	K562	blood:
3	chr3:138335565..138337167-chr3:138338248..138339761,2	MCF-7	breast:
4	chr3:138326724..138329143-chr3:138336748..138338571,2	MCF-7	breast:
5	chr3:138328930..138332756-chr3:138333514..138336895,4	K562	blood:
6	chr3:138334799..138337572-chr3:138340483..138342350,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158234	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541920342	chr3:138335902-138335903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376669758	chr3:138336030-138336031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200275859	chr3:138336142-138336143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34194184	chr3:138336155-138336156	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545631223	chr3:138336201-138336202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201806819	chr3:138336210-138336211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372757532	chr3:138336224-138336225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566762332	chr3:138336226-138336227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs13067275	chr3:138336398-138336399	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs13067288	chr3:138336412-138336413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13087191	chr3:138336430-138336431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181202495	chr3:138336497-138336498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs202079330	chr3:138336498-138336499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs13067484	chr3:138336513-138336514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs13067493	chr3:138336516-138336517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144280220	chr3:138336571-138336572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369851644	chr3:138336577-138336578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112455051	chr3:138336587-138336588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537603203	chr3:138336626-138336627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185021752	chr3:138336663-138336664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs36057022	chr3:138336681-138336682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377183926	chr3:138336684-138336685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533237577	chr3:138336694-138336695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140747189	chr3:138336695-138336696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113168179	chr3:138336701-138336702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541693959	chr3:138336729-138336730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535482904	chr3:138336733-138336734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549007161	chr3:138336753-138336754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568925840	chr3:138336795-138336796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559115379	chr3:138336837-138336838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368921936	chr3:138336851-138336852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188816066	chr3:138336860-138336861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557495489	chr3:138336872-138336873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs78401119	chr3:138336892-138336893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112053012	chr3:138336909-138336910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112011465	chr3:138336925-138336926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572894040	chr3:138336929-138336930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11331101	chr3:138336989-138336990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs397876783	chr3:138336990-138336991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs147436964	chr3:138337050-138337051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs76983223	chr3:138337083-138337084	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555348029	chr3:138337130-138337131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs62280705	chr3:138337161-138337162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544410381	chr3:138337166-138337167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139730043	chr3:138337202-138337203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533024143	chr3:138337226-138337227	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540510041	chr3:138337274-138337275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs6786979	chr3:138337366-138337367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186083172	chr3:138337432-138337433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
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
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
Multiple myeloma	17550852	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
Intracranial aneurysm	16715129	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
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138328400-138350200	Weak transcription	Lung	lung
2	chr3:138328400-138353200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:138328400-138355000	Weak transcription	Esophagus	oesophagus
4	chr3:138328600-138346400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:138328600-138349400	Weak transcription	Ovary	ovary
6	chr3:138328600-138358000	Weak transcription	Psoas Muscle	Psoas
7	chr3:138328800-138344800	Weak transcription	NHDF-Ad	bronchial
8	chr3:138328800-138358000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:138329000-138336200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:138329000-138337600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:138329000-138338200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:138329000-138342200	Weak transcription	Fetal Stomach	stomach
13	chr3:138329000-138342800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:138329000-138344800	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:138329000-138346800	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:138329000-138347600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:138329000-138348000	Weak transcription	Fetal Intestine Large	intestine
18	chr3:138329000-138348200	Weak transcription	Left Ventricle	heart
19	chr3:138329000-138348400	Weak transcription	Aorta	Aorta
20	chr3:138329000-138348400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:138329000-138348600	Weak transcription	Fetal Intestine Small	intestine
22	chr3:138329000-138350000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:138329000-138354200	Weak transcription	Fetal Lung	lung
24	chr3:138329200-138337600	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:138329200-138342200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:138329200-138344600	Weak transcription	Osteobl	bone
27	chr3:138329200-138345000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:138329200-138348200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:138329600-138345600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:138330000-138336000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:138330800-138342200	Weak transcription	Pancreas	Pancrea
32	chr3:138331800-138337400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:138333200-138347000	Weak transcription	Fetal Thymus	thymus
34	chr3:138334200-138348600	Weak transcription	Thymus	Thymus
35	chr3:138334600-138345000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr3:138335400-138348200	Weak transcription	Adipose Nuclei	Adipose
37	chr3:138335400-138368000	Weak transcription	Right Ventricle	heart
38	chr3:138336800-138337000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:138337000-138339600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:138337000-138360400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:138337400-138337800	Enhancers	Brain Substantia Nigra	brain
42	chr3:138337400-138338200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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