Variant report

Variant	nsv224861
Chromosome Location	chr3:98570145-98570148
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	chr3:98568796..98570579-chr3:98572052..98574202,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 60 )

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	rs200440057	chr3:98570145-98570146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10589669	chr3:98570148-98570149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98503400-98576400	Weak transcription	Gastric	stomach
2	chr3:98528200-98575400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:98536200-98594200	Weak transcription	HepG2	liver
4	chr3:98537000-98592800	Weak transcription	K562	blood
5	chr3:98552800-98575800	Weak transcription	Pancreas	Pancrea
6	chr3:98552800-98578000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:98552800-98579800	Weak transcription	Right Ventricle	heart
8	chr3:98553000-98575600	Weak transcription	Fetal Stomach	stomach
9	chr3:98553000-98576000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:98553000-98576200	Weak transcription	Left Ventricle	heart
11	chr3:98553000-98590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:98558200-98577200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:98559600-98576800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:98560000-98575600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:98560200-98575800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:98562400-98575600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:98563000-98574400	Weak transcription	HSMMtube	muscle
18	chr3:98563600-98576000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:98564600-98574800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:98567200-98574600	Weak transcription	Psoas Muscle	Psoas
21	chr3:98567200-98575200	Weak transcription	Brain Germinal Matrix	brain
22	chr3:98567400-98575000	Weak transcription	Fetal Kidney	kidney
23	chr3:98567400-98575200	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:98567400-98578200	Weak transcription	Ovary	ovary
25	chr3:98567600-98571800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:98567600-98572200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:98567600-98572600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:98567600-98574000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:98567600-98574400	Weak transcription	NHLF	lung
30	chr3:98567600-98574800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:98567600-98574800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:98567600-98575000	Weak transcription	Fetal Lung	lung
33	chr3:98567600-98575200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:98567600-98575400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:98567600-98575400	Weak transcription	Liver	Liver
36	chr3:98567600-98575400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:98567600-98575600	Weak transcription	Adipose Nuclei	Adipose
38	chr3:98567600-98575800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:98567600-98575800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:98567600-98601000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:98567800-98574200	Weak transcription	HUVEC	blood vessel
42	chr3:98567800-98575000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:98567800-98575400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr3:98567800-98575600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:98567800-98576200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:98567800-98577000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:98568000-98575800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:98568200-98578000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:98568400-98572200	Weak transcription	NHDF-Ad	bronchial
50	chr3:98568400-98577200	Weak transcription	Dnd41	blood

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