Variant report

Variant	esv3416662
Chromosome Location	chr3:110056462-110061260
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	chr3:110059725..110061588-chr3:110063064..110065714,2	K562	blood:
2	chr3:110022942..110025817-chr3:110056639..110058339,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185384576	chr3:110059403-110059404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562623603	chr3:110059407-110059408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563055374	chr3:110059490-110059491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532068683	chr3:110059551-110059552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371527413	chr3:110059590-110059591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10934031	chr3:110059591-110059592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551783490	chr3:110059605-110059606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112337631	chr3:110059607-110059608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147610680	chr3:110059625-110059626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527297310	chr3:110059636-110059637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200018389	chr3:110059675-110059676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189456320	chr3:110059683-110059684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567051685	chr3:110059716-110059717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182056026	chr3:110059738-110059739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549605922	chr3:110059772-110059773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531659676	chr3:110059789-110059790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374766011	chr3:110059858-110059859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558587579	chr3:110059870-110059871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116809245	chr3:110059884-110059885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186043114	chr3:110059914-110059915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554184896	chr3:110059919-110059920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574217708	chr3:110059945-110059946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142464240	chr3:110059953-110059954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35110676	chr3:110059993-110059994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556842725	chr3:110059994-110059995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372514959	chr3:110060011-110060012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143287576	chr3:110060040-110060041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545542418	chr3:110060041-110060042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151258514	chr3:110060144-110060145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140450012	chr3:110060178-110060179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190760294	chr3:110060192-110060193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150389904	chr3:110060194-110060195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529785959	chr3:110060197-110060198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563903327	chr3:110060202-110060203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549471244	chr3:110060253-110060254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569373953	chr3:110060315-110060316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528291580	chr3:110060345-110060346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546415020	chr3:110060346-110060347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532224491	chr3:110060371-110060372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181184132	chr3:110060417-110060418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567996766	chr3:110060441-110060442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565861835	chr3:110060443-110060444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147502567	chr3:110060451-110060452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200302523	chr3:110060458-110060459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138489338	chr3:110060510-110060511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376528129	chr3:110060520-110060521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550544247	chr3:110060563-110060564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567658234	chr3:110060608-110060609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186626530	chr3:110060655-110060656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13093964	chr3:110060657-110060658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110059400-110059600	Enhancers	Liver	Liver
2	chr3:110059400-110060600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:110059400-110060600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:110059400-110060600	Enhancers	HSMM	muscle
5	chr3:110059400-110060800	Enhancers	NHDF-Ad	bronchial
6	chr3:110060000-110060200	Enhancers	A549	lung
7	chr3:110060000-110060600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:110060000-110060600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:110060200-110060400	Enhancers	Osteobl	bone
10	chr3:110060200-110063400	Weak transcription	Liver	Liver
11	chr3:110060400-110060600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:110060400-110060600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:110060400-110060600	Enhancers	NHLF	lung
14	chr3:110060400-110060800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:110060400-110060800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:110060400-110061800	Weak transcription	A549	lung
17	chr3:110060600-110061400	Weak transcription	HSMM	muscle
18	chr3:110060600-110061800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:110060600-110061800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:110060600-110062000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:110060600-110062200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:110060600-110062400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:110060600-110063000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:110060800-110061800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:110060800-110062200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:110060800-110062200	Weak transcription	NHDF-Ad	bronchial
27	chr3:110060800-110062400	Weak transcription	NHLF	lung

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