Variant report

Variant	esv3452167
Chromosome Location	chr3:112093705-112094142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78662356	chr3:112093758-112093759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs28505409	chr3:112093762-112093763	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573953355	chr3:112093775-112093776	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs542915507	chr3:112093793-112093794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs562737774	chr3:112093824-112093825	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531825695	chr3:112093838-112093839	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372165210	chr3:112093853-112093854	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551565410	chr3:112093861-112093862	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547365488	chr3:112093864-112093865	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs1879512	chr3:112093900-112093901	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs527806474	chr3:112093905-112093906	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs148018370	chr3:112094005-112094006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564128823	chr3:112094015-112094016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77577494	chr3:112094019-112094020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536505164	chr3:112094092-112094093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375178047	chr3:112094111-112094112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376683458	chr3:112094116-112094117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549780671	chr3:112094117-112094118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112069200-112095400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:112077200-112094200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:112077600-112107200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr3:112080000-112096000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:112082200-112096000	Weak transcription	Fetal Stomach	stomach
6	chr3:112082600-112094600	Weak transcription	Brain Anterior Caudate	brain
7	chr3:112084000-112094800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:112084800-112096000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:112084800-112096800	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:112085000-112095600	Weak transcription	Thymus	Thymus
11	chr3:112085400-112096000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:112085600-112095400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:112085600-112096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:112085800-112096400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:112085800-112096600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:112085800-112101400	Weak transcription	Aorta	Aorta
17	chr3:112086000-112095000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:112086000-112095600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:112087600-112096400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:112091400-112098400	Enhancers	Adipose Nuclei	Adipose
21	chr3:112091600-112095600	Enhancers	Placenta	Placenta
22	chr3:112092400-112094400	Weak transcription	Left Ventricle	heart
23	chr3:112092600-112095600	Weak transcription	Primary T cells from cord blood	blood
24	chr3:112092600-112096600	Enhancers	Hela-S3	cervix
25	chr3:112092800-112094200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:112092800-112095200	Weak transcription	Primary B cells from cord blood	blood
27	chr3:112092800-112095400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr3:112092800-112095400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:112092800-112098000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:112093000-112094400	Weak transcription	Right Atrium	heart
31	chr3:112093000-112094600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr3:112093000-112096000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr3:112093200-112093800	Enhancers	Fetal Lung	lung
34	chr3:112093200-112094400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr3:112093200-112094400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:112093200-112095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:112093200-112095000	Weak transcription	Fetal Thymus	thymus
38	chr3:112093200-112095600	Weak transcription	Fetal Kidney	kidney
39	chr3:112093400-112095000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:112093400-112096000	Weak transcription	Small Intestine	intestine
41	chr3:112093400-112096400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:112093400-112097000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr3:112093600-112094000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:112093600-112094000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr3:112093600-112096400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:112093800-112094200	Weak transcription	Fetal Lung	lung
47	chr3:112094000-112098800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:112094000-112099600	Enhancers	Primary monocytes fromperipheralblood	blood

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