Variant report

Variant	nsv222456
Chromosome Location	chr3:138391784-138391785
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	chr3:138386996..138389793-chr3:138390548..138393262,2	MCF-7	breast:
2	chr3:138326042..138328917-chr3:138389587..138392468,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158234	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 54 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10612219	chr3:138391784-138391785	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs7637913	chr3:138391785-138391786	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138340400-138393800	Weak transcription	Fetal Brain Male	brain
2	chr3:138360800-138407600	Weak transcription	HUVEC	blood vessel
3	chr3:138364400-138459200	Weak transcription	Psoas Muscle	Psoas
4	chr3:138368800-138392400	Weak transcription	HMEC	breast
5	chr3:138368800-138400200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:138368800-138422600	Weak transcription	Right Atrium	heart
7	chr3:138369000-138392400	Weak transcription	HSMM	muscle
8	chr3:138369000-138493000	Weak transcription	Fetal Lung	lung
9	chr3:138369200-138391800	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:138369200-138393600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:138369200-138401600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:138369200-138412800	Weak transcription	Hela-S3	cervix
13	chr3:138369200-138428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:138369200-138435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:138369400-138392600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:138374800-138392200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:138374800-138397000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:138375200-138429000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:138377000-138392800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:138377000-138394200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:138381800-138394200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:138383000-138393600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:138383000-138395000	Weak transcription	Fetal Brain Female	brain
24	chr3:138383000-138404800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:138383200-138392000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:138383200-138392400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:138383200-138392600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:138383200-138392600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:138383200-138392600	Weak transcription	Fetal Muscle Leg	muscle
30	chr3:138383200-138392600	Weak transcription	Thymus	Thymus
31	chr3:138383200-138393000	Weak transcription	Aorta	Aorta
32	chr3:138383200-138393000	Weak transcription	Esophagus	oesophagus
33	chr3:138383200-138393600	Weak transcription	Brain Germinal Matrix	brain
34	chr3:138383200-138393800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr3:138383200-138395400	Weak transcription	Colonic Mucosa	Colon
36	chr3:138383200-138412800	Weak transcription	Ovary	ovary
37	chr3:138383200-138448200	Weak transcription	Gastric	stomach
38	chr3:138383400-138393000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:138383400-138393000	Weak transcription	NHDF-Ad	bronchial
40	chr3:138383400-138393600	Weak transcription	A549	lung
41	chr3:138383400-138395000	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:138383400-138395400	Weak transcription	HSMMtube	muscle
43	chr3:138383400-138426400	Weak transcription	Spleen	Spleen
44	chr3:138383400-138443000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:138383800-138392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:138383800-138393600	Weak transcription	Brain Anterior Caudate	brain
47	chr3:138383800-138400200	Weak transcription	Fetal Kidney	kidney
48	chr3:138383800-138405400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:138384000-138392200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:138384000-138392200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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