Variant report

Variant	esv3419898
Chromosome Location	chr3:134011012-134012360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73215399	chr3:134011031-134011032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533977684	chr3:134011067-134011068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577894272	chr3:134011069-134011070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10451902	chr3:134011079-134011080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560632621	chr3:134011097-134011098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs202209193	chr3:134011112-134011113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574090534	chr3:134011123-134011124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200108145	chr3:134011142-134011143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539868002	chr3:134011148-134011149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200080257	chr3:134011149-134011150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372521398	chr3:134011160-134011161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201263503	chr3:134011161-134011162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371020921	chr3:134011172-134011173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543116164	chr3:134011173-134011174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201063273	chr3:134011178-134011179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199950781	chr3:134011187-134011188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372383633	chr3:134011193-134011194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375544854	chr3:134011194-134011195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs202239800	chr3:134011195-134011196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377049175	chr3:134011245-134011246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62271221	chr3:134011248-134011249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200476670	chr3:134011249-134011250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201616074	chr3:134011250-134011251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202018220	chr3:134011251-134011252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200184610	chr3:134011252-134011253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201286258	chr3:134011253-134011254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142206022	chr3:134011260-134011261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202173256	chr3:134011262-134011263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370942544	chr3:134011269-134011270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375690043	chr3:134011273-134011274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555554270	chr3:134011290-134011291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201959309	chr3:134011291-134011292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200322822	chr3:134011292-134011293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199943043	chr3:134011299-134011300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149707847	chr3:134011306-134011307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547723207	chr3:134011319-134011320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74196083	chr3:134011325-134011326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566556139	chr3:134011337-134011338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201984408	chr3:134011345-134011346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145625865	chr3:134011346-134011347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148895154	chr3:134011351-134011352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568833941	chr3:134011352-134011353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537871922	chr3:134011358-134011359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143453193	chr3:134011362-134011363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111215328	chr3:134011364-134011365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533964491	chr3:134011366-134011367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188313417	chr3:134011373-134011374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533402638	chr3:134011383-134011384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371325614	chr3:134011390-134011391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373592900	chr3:134011393-134011394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134009800-134011200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:134010200-134011200	Enhancers	NHLF	lung
3	chr3:134010600-134012000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:134010600-134012000	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:134010600-134012000	Weak transcription	Ovary	ovary
6	chr3:134010600-134013000	Weak transcription	Dnd41	blood
7	chr3:134010600-134018200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:134010800-134012200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:134010800-134012200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr3:134010800-134012800	Weak transcription	HMEC	breast
11	chr3:134011000-134011600	Weak transcription	HSMMtube	muscle
12	chr3:134011000-134012000	Weak transcription	Adipose Nuclei	Adipose
13	chr3:134011000-134012200	Weak transcription	Fetal Lung	lung
14	chr3:134011000-134013000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:134011000-134013400	Weak transcription	Small Intestine	intestine
16	chr3:134011000-134018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:134011200-134012200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:134011200-134012800	Weak transcription	Primary T cells from cord blood	blood
19	chr3:134011800-134012000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:134012000-134012200	Enhancers	Ovary	ovary
21	chr3:134012000-134012400	Enhancers	Adipose Nuclei	Adipose
22	chr3:134012000-134013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:134012000-134013000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr3:134012000-134014000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:134012000-134014200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:134012000-134014200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr3:134012200-134012400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:134012200-134012400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:134012200-134012400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:134012200-134012400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:134012200-134012400	Enhancers	Colon Smooth Muscle	Colon
32	chr3:134012200-134012400	Enhancers	Fetal Lung	lung
33	chr3:134012200-134012600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr3:134012200-134012600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr3:134012200-134014000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr3:134012200-134014200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:134012200-134014400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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