Variant report

Variant	nsv236132
Chromosome Location	chr3:138424006-138424032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138415770..138417345-chr3:138421498..138424319,2	K562	blood:
2	chr3:138422556..138424552-chr3:139106255..139108332,2	K562	blood:
3	chr3:138415770..138418446-chr3:138422222..138424319,3	K562	blood:
4	chr3:138419957..138424581-chr3:138425428..138429195,4	K562	blood:
5	chr3:138421817..138424189-chr3:138551922..138554097,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252245	chromatin interactions
ENSG00000051382	chromatin interactions

Extended variants
information (count: 6 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73864485	chr3:138424009-138424010	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs563614217	chr3:138424016-138424017	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs553775557	chr3:138424019-138424020	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12631204	chr3:138424023-138424024	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201997168	chr3:138424028-138424029	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs60660285	chr3:138424032-138424033	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	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
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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138364400-138459200	Weak transcription	Psoas Muscle	Psoas
2	chr3:138369000-138493000	Weak transcription	Fetal Lung	lung
3	chr3:138369200-138428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:138369200-138435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:138375200-138429000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:138383200-138448200	Weak transcription	Gastric	stomach
7	chr3:138383400-138426400	Weak transcription	Spleen	Spleen
8	chr3:138383400-138443000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:138390800-138459600	Weak transcription	Right Ventricle	heart
10	chr3:138393800-138515000	Weak transcription	Aorta	Aorta
11	chr3:138395200-138436800	Weak transcription	Brain Germinal Matrix	brain
12	chr3:138395800-138444800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:138395800-138459800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:138395800-138480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:138396000-138436400	Weak transcription	Fetal Brain Female	brain
16	chr3:138396000-138469200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:138396200-138443200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:138396200-138469200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:138396200-138486400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:138396200-138487000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:138397200-138434400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:138399600-138443400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:138400600-138442800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:138401600-138436600	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:138401800-138442800	Weak transcription	Brain Angular Gyrus	brain
26	chr3:138402000-138442800	Weak transcription	Brain Substantia Nigra	brain
27	chr3:138402200-138431000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr3:138404800-138442200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:138406000-138432600	Weak transcription	Fetal Kidney	kidney
30	chr3:138406800-138442200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:138408000-138479800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:138408200-138427200	Weak transcription	GM12878-XiMat	blood
33	chr3:138408200-138443200	Weak transcription	Brain Anterior Caudate	brain
34	chr3:138408400-138426000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr3:138408400-138499200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:138409800-138427000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:138412000-138432000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:138412600-138432000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:138413600-138430800	Weak transcription	Stomach Mucosa	stomach
40	chr3:138413800-138426000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:138413800-138445400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:138413800-138445400	Weak transcription	Ovary	ovary
43	chr3:138413800-138458400	Weak transcription	Thymus	Thymus
44	chr3:138413800-138487600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:138414000-138426400	Weak transcription	HSMM	muscle
46	chr3:138414000-138432600	Weak transcription	NHEK	skin
47	chr3:138414200-138453400	Weak transcription	HMEC	breast
48	chr3:138414400-138436200	Weak transcription	NHDF-Ad	bronchial
49	chr3:138415600-138428800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:138415800-138445800	Weak transcription	NH-A	brain

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