Variant report

Variant	esv3430009
Chromosome Location	chr3:133132212-133137110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133130542..133132514-chr3:133135726..133138397,2	K562	blood:
2	chr3:133130542..133132514-chr3:133135726..133138397,2	K562	blood:
3	chr3:133127092..133128594-chr3:133130623..133133431,2	K562	blood:

Extended variants
information (count: 292 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149610310	chr3:133132224-133132225	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs116570170	chr3:133132225-133132226	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542023037	chr3:133132436-133132437	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs10935059	chr3:133132496-133132497	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190625537	chr3:133132574-133132575	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182308177	chr3:133132657-133132658	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs544577270	chr3:133132658-133132659	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs537787111	chr3:133132665-133132666	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs187788829	chr3:133132780-133132781	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs533464649	chr3:133132796-133132797	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs74847136	chr3:133132797-133132798	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs148375839	chr3:133132803-133132804	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs143267727	chr3:133132829-133132830	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs191100346	chr3:133132849-133132850	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs183528095	chr3:133132851-133132852	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs577325335	chr3:133132857-133132858	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs569165333	chr3:133132862-133132863	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs147941482	chr3:133132880-133132881	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs552711632	chr3:133132882-133132883	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs188297503	chr3:133132893-133132894	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs546393607	chr3:133132899-133132900	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs550247233	chr3:133132912-133132913	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs113986587	chr3:133132921-133132922	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs113553966	chr3:133132959-133132960	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs570140571	chr3:133133033-133133034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193117030	chr3:133133037-133133038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151032579	chr3:133133088-133133089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11711011	chr3:133133095-133133096	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552758029	chr3:133133113-133133114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150193935	chr3:133133126-133133127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556137734	chr3:133133139-133133140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572915371	chr3:133133160-133133161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11710993	chr3:133133184-133133185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572628299	chr3:133133211-133133212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370902299	chr3:133133232-133133233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559741489	chr3:133133312-133133313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2699876	chr3:133133317-133133318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200895323	chr3:133133320-133133321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555612081	chr3:133133327-133133328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2699877	chr3:133133352-133133353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112939005	chr3:133133408-133133409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564692028	chr3:133133422-133133423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575602145	chr3:133133468-133133469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544566984	chr3:133133487-133133488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193204202	chr3:133133493-133133494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113300346	chr3:133133553-133133554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80073401	chr3:133133559-133133560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75619310	chr3:133133561-133133562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7372238	chr3:133133564-133133565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs371343491	chr3:133133582-133133583	Weak transcription	n/a	n/a	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
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133124600-133138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:133131000-133132600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:133131000-133133000	Enhancers	Fetal Brain Male	brain
4	chr3:133131400-133132600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:133131400-133132600	Enhancers	Fetal Brain Female	brain
6	chr3:133131400-133132800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:133131400-133132800	Active TSS	NHLF	lung
8	chr3:133131400-133133000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:133131400-133133200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:133131600-133132600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:133131600-133132600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:133131600-133132600	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr3:133131600-133132600	Flanking Active TSS	HSMMtube	muscle
14	chr3:133131600-133132800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:133131600-133132800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr3:133131600-133132800	Active TSS	Stomach Smooth Muscle	stomach
17	chr3:133131600-133133000	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr3:133131600-133133000	Enhancers	Placenta	Placenta
19	chr3:133131800-133132400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:133131800-133132400	Flanking Active TSS	HSMM	muscle
21	chr3:133131800-133132600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:133131800-133132600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr3:133131800-133132600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:133131800-133132600	Active TSS	Right Atrium	heart
25	chr3:133131800-133132600	Enhancers	NH-A	brain
26	chr3:133131800-133132800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr3:133131800-133132800	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr3:133131800-133132800	Flanking Active TSS	Osteobl	bone
29	chr3:133131800-133133000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr3:133131800-133133000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:133132000-133132600	Enhancers	Fetal Heart	heart
32	chr3:133132000-133132800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:133132000-133132800	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr3:133132000-133133000	Enhancers	Fetal Muscle Trunk	muscle
35	chr3:133132000-133133200	Enhancers	Fetal Stomach	stomach
36	chr3:133132200-133132400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:133132200-133132400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:133132200-133132400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr3:133132200-133132400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr3:133132200-133132400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
41	chr3:133132200-133132400	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr3:133132200-133132400	Flanking Active TSS	NHDF-Ad	bronchial
43	chr3:133132200-133132600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:133132200-133132600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr3:133132200-133132600	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr3:133132200-133132600	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr3:133132200-133132600	Active TSS	Duodenum Mucosa	Duodenum
48	chr3:133132200-133132600	Enhancers	Fetal Intestine Large	intestine
49	chr3:133132200-133132600	Active TSS	Ovary	ovary
50	chr3:133132200-133132600	Flanking Active TSS	Rectal Smooth Muscle	rectum

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