Variant report

Variant	esv3357241
Chromosome Location	chr3:105277162-105281660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:105274336..105276377-chr3:105279991..105282080,2	K562	blood:
2	chr3:105272104..105273978-chr3:105278309..105280782,2	MCF-7	breast:
3	chr3:105275017..105277124-chr3:105277542..105279402,2	MCF-7	breast:

Extended variants
information (count: 147 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150919168	chr3:105277162-105277163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17189643	chr3:105277166-105277167	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs534612994	chr3:105277210-105277211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187560485	chr3:105277252-105277253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572825669	chr3:105277311-105277312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs499342	chr3:105277349-105277350	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561355722	chr3:105277353-105277354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77960320	chr3:105277390-105277391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142088247	chr3:105277473-105277474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561140758	chr3:105277500-105277501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565040951	chr3:105277510-105277511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6792801	chr3:105277521-105277522	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs17189711	chr3:105277548-105277549	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192296554	chr3:105277558-105277559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16851303	chr3:105277634-105277635	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185599169	chr3:105277641-105277642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530305614	chr3:105277662-105277663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377052234	chr3:105277699-105277700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569723654	chr3:105277726-105277727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190579475	chr3:105277757-105277758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552264635	chr3:105277817-105277818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373329415	chr3:105277833-105277834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570603639	chr3:105277884-105277885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200170551	chr3:105277886-105277887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370402315	chr3:105277947-105277948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572682058	chr3:105277958-105277959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77545640	chr3:105277979-105277980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145837385	chr3:105277999-105278000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9873424	chr3:105278005-105278006	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576513329	chr3:105278023-105278024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370384967	chr3:105278058-105278059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543617601	chr3:105278067-105278068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13066546	chr3:105278069-105278070	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576969970	chr3:105278092-105278093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202024978	chr3:105278106-105278107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137890099	chr3:105278140-105278141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545949147	chr3:105278145-105278146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142794672	chr3:105278200-105278201	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201684512	chr3:105278210-105278211	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546659767	chr3:105278220-105278221	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568203960	chr3:105278223-105278224	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561318353	chr3:105278258-105278259	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559289862	chr3:105278265-105278266	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530130198	chr3:105278358-105278359	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530256831	chr3:105278396-105278397	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548138764	chr3:105278401-105278402	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13067252	chr3:105278405-105278406	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs530611662	chr3:105278462-105278463	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150389069	chr3:105278493-105278494	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180860216	chr3:105278502-105278503	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Renal cell carcinoma	21668985	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
small cell lung cancer	20016488	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
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105242000-105293600	Weak transcription	Lung	lung
3	chr3:105242400-105280400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:105246600-105284400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:105248000-105281200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:105248400-105291200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:105249400-105278600	Weak transcription	Small Intestine	intestine
8	chr3:105249800-105284000	Weak transcription	Fetal Stomach	stomach
9	chr3:105249800-105285200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:105254800-105279800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:105259400-105281200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr3:105260800-105297000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:105260800-105299800	Weak transcription	Pancreas	Pancrea
14	chr3:105263000-105295400	Weak transcription	Brain Angular Gyrus	brain
15	chr3:105267600-105293800	Weak transcription	Brain Anterior Caudate	brain
16	chr3:105268400-105297800	Weak transcription	NHLF	lung
17	chr3:105270600-105278200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:105270800-105277600	Weak transcription	Fetal Heart	heart
19	chr3:105271600-105280600	Weak transcription	Fetal Intestine Large	intestine
20	chr3:105271600-105282600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:105271600-105297000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:105271600-105303000	Weak transcription	Aorta	Aorta
23	chr3:105271800-105285800	Weak transcription	HUVEC	blood vessel
24	chr3:105272000-105291200	Weak transcription	Brain Substantia Nigra	brain
25	chr3:105272200-105312800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:105272400-105302800	Weak transcription	NHEK	skin
27	chr3:105273000-105295200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr3:105273200-105292200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:105273200-105294000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:105273200-105295800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr3:105273200-105303000	Weak transcription	HMEC	breast
32	chr3:105273400-105280800	Weak transcription	A549	lung
33	chr3:105273400-105285600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:105273400-105287800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr3:105273400-105292800	Weak transcription	Ovary	ovary
36	chr3:105273400-105297600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr3:105273400-105297600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:105273400-105299800	Weak transcription	NHDF-Ad	bronchial
39	chr3:105273600-105278400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:105273600-105278400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:105273600-105280800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:105273600-105283200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:105273800-105291000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:105273800-105297400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:105274000-105291200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:105274000-105303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:105274200-105277400	Weak transcription	Primary B cells from cord blood	blood
48	chr3:105274600-105293400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr3:105274800-105279200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr3:105275600-105279200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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