Variant report

Variant	esv3344837
Chromosome Location	chr3:100774311-100789597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:100788825..100789763-chr3:100914706..100915595,6	MCF-7	breast:
2	chr3:100609802..100610399-chr3:100788949..100789683,2	MCF-7	breast:
3	chr3:100788848..100789981-chr3:100914652..100915586,4	K562	blood:
4	chr3:100780235..100782485-chr3:100787488..100789969,2	K562	blood:
5	chr3:100612213..100613093-chr3:100788871..100789436,4	MCF-7	breast:
6	chr3:100788830..100789638-chr3:101100403..101101282,3	MCF-7	breast:
7	chr3:100788607..100789401-chr3:100914647..100915562,5	MCF-7	breast:
8	chr3:100788987..100791271-chr3:100835784..100837518,2	K562	blood:
9	chr3:100780235..100782485-chr3:100787488..100789969,2	K562	blood:

No data

Extended variants
information (count: 590 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557954546	chr3:100774315-100774316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75543229	chr3:100774326-100774327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534294102	chr3:100774359-100774360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555885595	chr3:100774362-100774363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574127841	chr3:100774383-100774384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150977727	chr3:100774434-100774435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185983851	chr3:100774453-100774454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578210564	chr3:100774491-100774492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374304445	chr3:100774502-100774503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9872095	chr3:100774613-100774614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563872189	chr3:100774662-100774663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140840462	chr3:100774731-100774732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564768137	chr3:100774751-100774752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530997058	chr3:100774752-100774753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190592951	chr3:100774818-100774819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150157628	chr3:100774842-100774843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58135096	chr3:100774847-100774848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145632313	chr3:100774852-100774853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144618874	chr3:100774885-100774886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533258283	chr3:100774887-100774888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551343431	chr3:100774890-100774891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182416086	chr3:100774945-100774946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375621967	chr3:100774946-100774947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185513782	chr3:100774995-100774996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541353906	chr3:100775018-100775019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72940422	chr3:100775034-100775035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549525149	chr3:100775055-100775056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35850913	chr3:100775080-100775081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538309782	chr3:100775082-100775083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556545922	chr3:100775099-100775100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140460430	chr3:100775125-100775126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71315222	chr3:100775129-100775130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13087527	chr3:100775219-100775220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190848876	chr3:100775232-100775233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572647925	chr3:100775254-100775255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542792674	chr3:100775259-100775260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201232491	chr3:100775318-100775319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182760050	chr3:100775338-100775339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573423081	chr3:100775364-100775365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138258732	chr3:100775446-100775447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112866023	chr3:100775489-100775490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562513328	chr3:100775512-100775513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188989702	chr3:100775520-100775521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193127628	chr3:100775523-100775524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560165065	chr3:100775581-100775582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527514135	chr3:100775616-100775617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538251314	chr3:100775622-100775623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183463813	chr3:100775671-100775672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371202920	chr3:100775691-100775692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567442837	chr3:100775707-100775708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100762600-100780200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:100778200-100782000	Weak transcription	NHDF-Ad	bronchial
3	chr3:100780000-100780600	Enhancers	Stomach Mucosa	stomach
4	chr3:100780000-100780600	Enhancers	Osteobl	bone
5	chr3:100780200-100780400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:100780200-100780600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:100780200-100780600	Enhancers	HMEC	breast
8	chr3:100780400-100780600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:100780400-100780600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:100780400-100781800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:100780600-100781800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:100780600-100783600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:100780600-100783600	Weak transcription	HMEC	breast
14	chr3:100780600-100783800	Weak transcription	Osteobl	bone
15	chr3:100781200-100783000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:100781600-100782200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:100781800-100784200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:100781800-100785200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:100782000-100782200	Enhancers	Fetal Stomach	stomach
20	chr3:100782000-100785000	Enhancers	NHDF-Ad	bronchial
21	chr3:100782200-100782600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:100782200-100783800	Weak transcription	Fetal Stomach	stomach
23	chr3:100782600-100783600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:100783000-100784600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:100783400-100784600	Enhancers	A549	lung
26	chr3:100783400-100784600	Enhancers	HSMMtube	muscle
27	chr3:100783400-100785200	Enhancers	NHLF	lung
28	chr3:100783600-100783800	Enhancers	Aorta	Aorta
29	chr3:100783600-100784400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:100783600-100784400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:100783600-100785000	Enhancers	Ovary	ovary
32	chr3:100783600-100785200	Enhancers	NHEK	skin
33	chr3:100783600-100785600	Enhancers	HMEC	breast
34	chr3:100783600-100786000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:100783600-100786000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:100783600-100786000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:100783600-100786000	Enhancers	HUVEC	blood vessel
38	chr3:100783800-100784600	Enhancers	Osteobl	bone
39	chr3:100783800-100784800	Weak transcription	Aorta	Aorta
40	chr3:100783800-100785000	Enhancers	Fetal Stomach	stomach
41	chr3:100783800-100786000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:100783800-100786000	Enhancers	Colon Smooth Muscle	Colon
43	chr3:100784000-100784400	Enhancers	Small Intestine	intestine
44	chr3:100784000-100784600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:100784000-100785200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr3:100784000-100786000	Enhancers	Hela-S3	cervix
47	chr3:100784000-100786000	Enhancers	HSMM	muscle
48	chr3:100784200-100784800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:100784200-100785000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr3:100784200-100785800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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