Variant report

Variant	esv3365465
Chromosome Location	chr3:115881362-115884960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544368913	chr3:115881423-115881424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377150720	chr3:115881424-115881425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186742596	chr3:115881453-115881454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570171915	chr3:115881471-115881472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537548779	chr3:115881489-115881490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142669732	chr3:115881492-115881493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556097727	chr3:115881494-115881495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140973794	chr3:115881524-115881525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192445378	chr3:115881537-115881538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115583302	chr3:115881539-115881540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537448274	chr3:115881540-115881541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7625990	chr3:115881541-115881542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149917583	chr3:115881543-115881544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200828314	chr3:115881553-115881554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77771058	chr3:115881554-115881555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564670801	chr3:115881562-115881563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73140930	chr3:115881580-115881581	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543566209	chr3:115881581-115881582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148671252	chr3:115881599-115881600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143356861	chr3:115881600-115881601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148905574	chr3:115881615-115881616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199642152	chr3:115881616-115881617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71141856	chr3:115881645-115881646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193013345	chr3:115881748-115881749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566470173	chr3:115881807-115881808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9878125	chr3:115881815-115881816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185149371	chr3:115881835-115881836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553985689	chr3:115881880-115881881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551906765	chr3:115881896-115881897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113064111	chr3:115881903-115881904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570335743	chr3:115881912-115881913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537913441	chr3:115881922-115881923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200900531	chr3:115881939-115881940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13076450	chr3:115882056-115882057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13099340	chr3:115882057-115882058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13099348	chr3:115882066-115882067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13076616	chr3:115882067-115882068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13099354	chr3:115882073-115882074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13076622	chr3:115882074-115882075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568377360	chr3:115882079-115882080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568029875	chr3:115882115-115882116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535154493	chr3:115882153-115882154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374254921	chr3:115882230-115882231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553809463	chr3:115882238-115882239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572728205	chr3:115882243-115882244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377515835	chr3:115882286-115882287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12494524	chr3:115882297-115882298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs375587009	chr3:115882336-115882337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576592782	chr3:115882370-115882371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543875347	chr3:115882372-115882373	Weak transcription	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
Ductal carcinoma	22052326	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

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115880000-115881600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr3:115880000-115881600	Enhancers	Fetal Brain Male	brain
3	chr3:115880400-115882000	Enhancers	Brain Germinal Matrix	brain
4	chr3:115880400-115884000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:115881000-115881400	Enhancers	Brain Cingulate Gyrus	brain
6	chr3:115881000-115881400	Weak transcription	Fetal Lung	lung
7	chr3:115881000-115881800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:115881000-115883000	Weak transcription	Brain Angular Gyrus	brain
9	chr3:115881000-115889600	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:115881200-115881400	Enhancers	Brain Hippocampus Middle	brain
11	chr3:115881200-115881400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr3:115881200-115881400	Enhancers	Brain Substantia Nigra	brain
13	chr3:115881200-115881800	Enhancers	Brain Anterior Caudate	brain
14	chr3:115881200-115884000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:115881400-115881800	Enhancers	Fetal Lung	lung
16	chr3:115881400-115883000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:115881400-115883000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:115881400-115883000	Weak transcription	Brain Substantia Nigra	brain
19	chr3:115881400-115884000	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:115881600-115884000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:115881600-115891800	Weak transcription	Fetal Brain Male	brain
22	chr3:115881800-115883000	Weak transcription	Brain Anterior Caudate	brain
23	chr3:115881800-115883000	Weak transcription	Fetal Lung	lung
24	chr3:115882000-115883800	Weak transcription	Brain Germinal Matrix	brain
25	chr3:115883000-115883200	Enhancers	Brain Angular Gyrus	brain
26	chr3:115883000-115883200	Enhancers	Brain Anterior Caudate	brain
27	chr3:115883000-115883200	Enhancers	Brain Cingulate Gyrus	brain
28	chr3:115883000-115883200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr3:115883000-115883200	Enhancers	Fetal Lung	lung
30	chr3:115883000-115885600	Enhancers	Brain Substantia Nigra	brain
31	chr3:115883200-115883600	Weak transcription	Brain Angular Gyrus	brain
32	chr3:115883200-115883600	Weak transcription	Brain Anterior Caudate	brain
33	chr3:115883200-115883600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:115883200-115883600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr3:115883200-115883600	Weak transcription	Fetal Lung	lung
36	chr3:115883600-115884800	Enhancers	Fetal Lung	lung
37	chr3:115883600-115885400	Enhancers	Brain Angular Gyrus	brain
38	chr3:115883600-115885400	Enhancers	Brain Anterior Caudate	brain
39	chr3:115883600-115885400	Enhancers	Brain Cingulate Gyrus	brain
40	chr3:115883600-115885400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr3:115883800-115884200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr3:115883800-115884400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:115883800-115884600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr3:115883800-115885000	Enhancers	Brain Germinal Matrix	brain
45	chr3:115883800-115885400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:115884000-115884400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr3:115884000-115884600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:115884000-115884600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:115884000-115884600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:115884000-115884800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links