Variant report

Variant	esv3369273
Chromosome Location	chr3:105383059-105383421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534628942	chr3:105383107-105383108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553177221	chr3:105383122-105383123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371004413	chr3:105383188-105383189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577513020	chr3:105383202-105383203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564282335	chr3:105383209-105383210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540549032	chr3:105383224-105383225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553076831	chr3:105383279-105383280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535530377	chr3:105383296-105383297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557136490	chr3:105383338-105383339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545632046	chr3:105383399-105383400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374117833	chr3:105383402-105383403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575131746	chr3:105383417-105383418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105368800-105388400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:105368800-105393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:105372200-105387400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:105372400-105388000	Weak transcription	Stomach Mucosa	stomach
5	chr3:105373000-105387800	Weak transcription	Gastric	stomach
6	chr3:105373000-105419600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:105373400-105401600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:105373600-105419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:105373800-105406200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:105374200-105388400	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:105374200-105392600	Weak transcription	Psoas Muscle	Psoas
12	chr3:105374400-105388000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:105374800-105392800	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:105375000-105388000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:105375000-105395600	Weak transcription	Brain Anterior Caudate	brain
16	chr3:105375200-105395400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:105375200-105395600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:105375600-105383600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:105375800-105384200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr3:105375800-105389200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:105375800-105399000	Weak transcription	Dnd41	blood
22	chr3:105375800-105405000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:105375800-105419600	Weak transcription	Colonic Mucosa	Colon
24	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
25	chr3:105376000-105384200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:105376000-105395600	Weak transcription	Esophagus	oesophagus
27	chr3:105376000-105438200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:105376200-105383800	Strong transcription	Primary B cells from cord blood	blood
29	chr3:105376200-105383800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:105376200-105397200	Weak transcription	NHLF	lung
31	chr3:105376400-105395600	Weak transcription	Fetal Brain Male	brain
32	chr3:105376600-105384000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:105376800-105395400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr3:105377200-105385000	Strong transcription	Left Ventricle	heart
36	chr3:105377200-105399200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:105378000-105387600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:105378000-105387800	Weak transcription	HepG2	liver
39	chr3:105378000-105388000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr3:105378000-105392600	Weak transcription	Ovary	ovary
41	chr3:105378000-105395600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:105378000-105420800	Weak transcription	HUVEC	blood vessel
43	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:105378200-105388000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr3:105378400-105385600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:105378600-105385600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:105378600-105386600	Weak transcription	GM12878-XiMat	blood
48	chr3:105378600-105386800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr3:105378600-105388000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:105378600-105438600	Weak transcription	Spleen	Spleen

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