Variant report

Variant	esv3448669
Chromosome Location	chr3:115979812-115982210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139524677	chr3:115979906-115979907	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs184336307	chr3:115979909-115979910	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs577666395	chr3:115979953-115979954	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs145735825	chr3:115979985-115979986	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs560507009	chr3:115980002-115980003	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs563868979	chr3:115980051-115980052	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs531221268	chr3:115980069-115980070	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs549341531	chr3:115980112-115980113	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs374784417	chr3:115980133-115980134	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs12634800	chr3:115980138-115980139	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528582443	chr3:115980142-115980143	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs546651762	chr3:115980192-115980193	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs571402102	chr3:115980193-115980194	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs187970132	chr3:115980203-115980204	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs550936009	chr3:115980216-115980217	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs113340388	chr3:115980234-115980235	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs537322751	chr3:115980296-115980297	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs191715068	chr3:115980300-115980301	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs140965286	chr3:115980312-115980313	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs534711021	chr3:115980337-115980338	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs553150845	chr3:115980441-115980442	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs184227055	chr3:115980445-115980446	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs150352642	chr3:115980527-115980528	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs556897304	chr3:115980546-115980547	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs575871526	chr3:115980590-115980591	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs543274567	chr3:115980675-115980676	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs201308065	chr3:115980762-115980763	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs561157771	chr3:115980794-115980795	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs528705021	chr3:115980800-115980801	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs569376566	chr3:115980824-115980825	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs34344475	chr3:115980835-115980836	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs540415067	chr3:115980852-115980853	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs565071246	chr3:115980912-115980913	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs532614636	chr3:115980922-115980923	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs188952689	chr3:115980970-115980971	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs138017491	chr3:115981009-115981010	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs569197342	chr3:115981016-115981017	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs181634700	chr3:115981059-115981060	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs549252290	chr3:115981061-115981062	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs549787529	chr3:115981130-115981131	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs143755202	chr3:115981133-115981134	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs566951023	chr3:115981201-115981202	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs534855912	chr3:115981215-115981216	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs146116236	chr3:115981224-115981225	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs569546182	chr3:115981229-115981230	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs571283749	chr3:115981286-115981287	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs138686145	chr3:115981309-115981310	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs370391742	chr3:115981339-115981340	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs575138698	chr3:115981364-115981365	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs542957484	chr3:115981374-115981375	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115962400-115983200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:115965800-115983200	Weak transcription	Fetal Brain Male	brain
3	chr3:115971200-115984800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:115973000-115983800	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:115976000-115987000	Weak transcription	Brain Anterior Caudate	brain
6	chr3:115976200-115982800	Weak transcription	Fetal Lung	lung
7	chr3:115976200-115984000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:115976200-115987000	Weak transcription	Brain Angular Gyrus	brain
9	chr3:115976800-115982600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:115977800-115980400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:115977800-115981600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr3:115977800-115981800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr3:115978000-115982600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:115978400-115980400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:115978400-115983800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:115978600-115981400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:115978600-115982000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr3:115979400-115980400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:115979600-115980000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr3:115979600-115981400	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:115979800-115980600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr3:115979800-115985000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:115980400-115981400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:115980400-115983400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:115980800-115981800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr3:115980800-115982600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:115981000-115981800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr3:115981000-115982200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr3:115981400-115981800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr3:115981400-115981800	Enhancers	Rectal Smooth Muscle	rectum
31	chr3:115981400-115982000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:115981400-115982000	Enhancers	Colon Smooth Muscle	Colon
33	chr3:115981400-115982200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr3:115981800-115982600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr3:115982000-115983000	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:115982000-115987200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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