Variant report

Variant	esv3327243
Chromosome Location	chr3:134010437-134012760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571479970	chr3:134010452-134010453	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs534139671	chr3:134010555-134010556	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537819815	chr3:134010624-134010625	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546276027	chr3:134010659-134010660	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs566475664	chr3:134010674-134010675	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575904268	chr3:134010825-134010826	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113849317	chr3:134010865-134010866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535430034	chr3:134010900-134010901	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs149977970	chr3:134010953-134010954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148786602	chr3:134010971-134010972	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs370511088	chr3:134010999-134011000	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538108345	chr3:134011005-134011006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73215399	chr3:134011031-134011032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533977684	chr3:134011067-134011068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577894272	chr3:134011069-134011070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10451902	chr3:134011079-134011080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560632621	chr3:134011097-134011098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202209193	chr3:134011112-134011113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574090534	chr3:134011123-134011124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200108145	chr3:134011142-134011143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539868002	chr3:134011148-134011149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200080257	chr3:134011149-134011150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372521398	chr3:134011160-134011161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201263503	chr3:134011161-134011162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371020921	chr3:134011172-134011173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543116164	chr3:134011173-134011174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201063273	chr3:134011178-134011179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199950781	chr3:134011187-134011188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372383633	chr3:134011193-134011194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375544854	chr3:134011194-134011195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202239800	chr3:134011195-134011196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377049175	chr3:134011245-134011246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62271221	chr3:134011248-134011249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs200476670	chr3:134011249-134011250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201616074	chr3:134011250-134011251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202018220	chr3:134011251-134011252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200184610	chr3:134011252-134011253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201286258	chr3:134011253-134011254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142206022	chr3:134011260-134011261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202173256	chr3:134011262-134011263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370942544	chr3:134011269-134011270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375690043	chr3:134011273-134011274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555554270	chr3:134011290-134011291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201959309	chr3:134011291-134011292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200322822	chr3:134011292-134011293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199943043	chr3:134011299-134011300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149707847	chr3:134011306-134011307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547723207	chr3:134011319-134011320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74196083	chr3:134011325-134011326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566556139	chr3:134011337-134011338	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134008200-134011000	Enhancers	Fetal Lung	lung
2	chr3:134008800-134010600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:134009600-134011000	Enhancers	Fetal Stomach	stomach
4	chr3:134009800-134010600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:134009800-134010600	Enhancers	Colon Smooth Muscle	Colon
6	chr3:134009800-134010600	Enhancers	Ovary	ovary
7	chr3:134009800-134010800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:134009800-134010800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:134009800-134010800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr3:134009800-134010800	Enhancers	Hela-S3	cervix
11	chr3:134009800-134011000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:134009800-134011000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:134009800-134011000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:134009800-134011000	Enhancers	Fetal Heart	heart
15	chr3:134009800-134011000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr3:134009800-134011200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:134010000-134010600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:134010000-134010600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:134010000-134010600	Enhancers	Brain Substantia Nigra	brain
20	chr3:134010000-134010600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr3:134010000-134010600	Enhancers	Placenta	Placenta
22	chr3:134010000-134010600	Enhancers	Left Ventricle	heart
23	chr3:134010000-134010600	Enhancers	Rectal Smooth Muscle	rectum
24	chr3:134010000-134010600	Enhancers	Right Atrium	heart
25	chr3:134010000-134010600	Enhancers	K562	blood
26	chr3:134010000-134011000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:134010000-134011000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:134010000-134011000	Enhancers	Adipose Nuclei	Adipose
29	chr3:134010000-134011000	Enhancers	Fetal Muscle Leg	muscle
30	chr3:134010000-134011000	Enhancers	Right Ventricle	heart
31	chr3:134010200-134010600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:134010200-134010600	Enhancers	Brain Anterior Caudate	brain
33	chr3:134010200-134010600	Enhancers	Brain Hippocampus Middle	brain
34	chr3:134010200-134010600	Enhancers	Psoas Muscle	Psoas
35	chr3:134010200-134010600	Enhancers	Dnd41	blood
36	chr3:134010200-134010600	Enhancers	NHDF-Ad	bronchial
37	chr3:134010200-134010800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:134010200-134010800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr3:134010200-134011000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr3:134010200-134011000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr3:134010200-134011000	Enhancers	Small Intestine	intestine
42	chr3:134010200-134011000	Enhancers	HSMMtube	muscle
43	chr3:134010200-134011200	Enhancers	NHLF	lung
44	chr3:134010400-134010800	Enhancers	HMEC	breast
45	chr3:134010400-134011000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr3:134010400-134011000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:134010400-134011000	Enhancers	Colonic Mucosa	Colon
48	chr3:134010400-134011000	Enhancers	NHEK	skin
49	chr3:134010400-134011000	Enhancers	Osteobl	bone
50	chr3:134010600-134010800	Enhancers	Primary T helper cells fromperipheralblood	blood

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