Variant report

Variant	esv1796614
Chromosome Location	chr3:100521734-100523359
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	chr3:100520717..100523501-chr7:140980485..140982614,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567451181	chr3:100521799-100521800	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188202907	chr3:100521802-100521803	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72930702	chr3:100521862-100521863	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549713181	chr3:100521874-100521875	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34178484	chr3:100521892-100521893	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567916884	chr3:100521931-100521932	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538442936	chr3:100521933-100521934	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373427334	chr3:100522028-100522029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149800303	chr3:100522042-100522043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181976940	chr3:100522080-100522081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539193577	chr3:100522115-100522116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572629995	chr3:100522145-100522146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76475742	chr3:100522179-100522180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572773797	chr3:100522195-100522196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539810400	chr3:100522196-100522197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145787297	chr3:100522256-100522257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573555014	chr3:100522262-100522263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148979388	chr3:100522323-100522324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562573591	chr3:100522426-100522427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79036406	chr3:100522436-100522437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143784132	chr3:100522453-100522454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147740216	chr3:100522520-100522521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546171847	chr3:100522526-100522527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187569788	chr3:100522615-100522616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112907909	chr3:100522618-100522619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375672127	chr3:100522633-100522634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192059575	chr3:100522682-100522683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536586333	chr3:100522683-100522684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550480359	chr3:100522716-100522717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544580519	chr3:100522782-100522783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539196394	chr3:100522818-100522819	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs183613646	chr3:100522826-100522827	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs566523212	chr3:100522878-100522879	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs533550312	chr3:100522880-100522881	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs186959065	chr3:100522896-100522897	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs372813314	chr3:100522909-100522910	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs190046301	chr3:100522974-100522975	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs377007996	chr3:100522975-100522976	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs556392674	chr3:100523091-100523092	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182701903	chr3:100523154-100523155	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10511185	chr3:100523253-100523254	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs560385249	chr3:100523257-100523258	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186658015	chr3:100523259-100523260	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73152433	chr3:100523294-100523295	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561301104	chr3:100523303-100523304	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547640865	chr3:100523347-100523348	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9290224	chr3:100523359-100523360	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100494800-100523400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:100502400-100530400	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:100505200-100558200	Weak transcription	Ovary	ovary
4	chr3:100505200-100582800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:100506000-100548400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:100513600-100523000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:100514200-100547600	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:100514400-100529000	Weak transcription	HSMMtube	muscle
9	chr3:100515400-100521800	Enhancers	NHDF-Ad	bronchial
10	chr3:100515600-100522600	Weak transcription	Osteobl	bone
11	chr3:100516000-100523000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:100516000-100572200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:100517400-100523400	Weak transcription	HSMM	muscle
14	chr3:100517400-100594400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:100518800-100543000	Weak transcription	Fetal Stomach	stomach
16	chr3:100519000-100523400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:100519600-100523600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:100519600-100530600	Weak transcription	Left Ventricle	heart
19	chr3:100521600-100522800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:100521800-100522000	Genic enhancers	NHDF-Ad	bronchial
21	chr3:100522000-100522400	Weak transcription	NHDF-Ad	bronchial
22	chr3:100522400-100525200	Strong transcription	NHDF-Ad	bronchial
23	chr3:100522600-100528400	Strong transcription	Osteobl	bone
24	chr3:100522800-100523800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:100523000-100524000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:100523000-100524400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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