Variant report

Variant	esv1808373
Chromosome Location	chr3:115952799-115984473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:115949809..115952723-chr3:115952914..115954692,2	MCF-7	breast:

Extended variants
information (count: 1230 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1230 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1870709	chr3:115952799-115952800	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562058709	chr3:115952820-115952821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186658778	chr3:115952842-115952843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541735640	chr3:115952911-115952912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189810735	chr3:115952927-115952928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578201011	chr3:115952942-115952943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145344781	chr3:115952951-115952952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6438307	chr3:115952955-115952956	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560776850	chr3:115953101-115953102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530936737	chr3:115953138-115953139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147284626	chr3:115953165-115953166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561326760	chr3:115953168-115953169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9866532	chr3:115953171-115953172	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547270497	chr3:115953207-115953208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565563930	chr3:115953214-115953215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181631337	chr3:115953255-115953256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9866706	chr3:115953268-115953269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs186257628	chr3:115953271-115953272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537144473	chr3:115953337-115953338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201508285	chr3:115953347-115953348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199557395	chr3:115953350-115953351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555107067	chr3:115953354-115953355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567237445	chr3:115953390-115953391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555504326	chr3:115953392-115953393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191025131	chr3:115953421-115953422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9828943	chr3:115953470-115953471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs578224259	chr3:115953496-115953497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183504720	chr3:115953553-115953554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557529946	chr3:115953560-115953561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9811675	chr3:115953619-115953620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs35204631	chr3:115953671-115953672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543093929	chr3:115953691-115953692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199649397	chr3:115953695-115953696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75245668	chr3:115953764-115953765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540944783	chr3:115953767-115953768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548698968	chr3:115953861-115953862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73858601	chr3:115953867-115953868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11379571	chr3:115953878-115953879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397744387	chr3:115953884-115953885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370219922	chr3:115953899-115953900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143511600	chr3:115954002-115954003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201705637	chr3:115954009-115954010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531873354	chr3:115954011-115954012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185888767	chr3:115954069-115954070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532961069	chr3:115954104-115954105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140819524	chr3:115954153-115954154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144687662	chr3:115954180-115954181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575142953	chr3:115954200-115954201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565529912	chr3:115954201-115954202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549038956	chr3:115954240-115954241	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
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:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115949600-115952800	Weak transcription	Brain Substantia Nigra	brain
2	chr3:115949600-115952800	Weak transcription	Fetal Kidney	kidney
3	chr3:115949600-115956200	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:115949600-115965400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:115951200-115955400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:115952400-115953200	Enhancers	Colon Smooth Muscle	Colon
7	chr3:115952600-115953200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:115952600-115953200	Enhancers	Brain Angular Gyrus	brain
9	chr3:115952600-115953200	Enhancers	Brain Anterior Caudate	brain
10	chr3:115952600-115953200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr3:115952800-115953000	Enhancers	Aorta	Aorta
12	chr3:115952800-115953200	Enhancers	Brain Substantia Nigra	brain
13	chr3:115952800-115953200	Enhancers	Fetal Lung	lung
14	chr3:115952800-115953200	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:115953200-115956000	Weak transcription	Brain Anterior Caudate	brain
16	chr3:115953200-115956000	Weak transcription	Brain Substantia Nigra	brain
17	chr3:115953200-115957800	Weak transcription	Brain Angular Gyrus	brain
18	chr3:115953200-115957800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr3:115953200-115959200	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:115953200-115965400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:115955400-115955600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:115956000-115956800	Enhancers	Brain Anterior Caudate	brain
23	chr3:115956000-115958000	Enhancers	Brain Substantia Nigra	brain
24	chr3:115956200-115957600	Enhancers	Brain Hippocampus Middle	brain
25	chr3:115956800-115960600	Weak transcription	Brain Anterior Caudate	brain
26	chr3:115957400-115958000	Enhancers	Psoas Muscle	Psoas
27	chr3:115957600-115965400	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:115957800-115958200	Enhancers	Brain Angular Gyrus	brain
29	chr3:115957800-115958200	Enhancers	Rectal Smooth Muscle	rectum
30	chr3:115958200-115969800	Weak transcription	Brain Angular Gyrus	brain
31	chr3:115959200-115959600	Enhancers	Colon Smooth Muscle	Colon
32	chr3:115959600-115960000	Enhancers	Fetal Muscle Trunk	muscle
33	chr3:115959600-115960600	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:115960600-115961000	Enhancers	Brain Anterior Caudate	brain
35	chr3:115960600-115961000	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr3:115960800-115961400	Enhancers	Brain Germinal Matrix	brain
37	chr3:115961000-115961200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:115961000-115962000	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:115961000-115971000	Weak transcription	Brain Anterior Caudate	brain
40	chr3:115961200-115961400	Enhancers	Fetal Brain Male	brain
41	chr3:115961200-115961800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:115961400-115962200	Enhancers	NHDF-Ad	bronchial
43	chr3:115961600-115962400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:115961600-115962600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:115961800-115962200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr3:115961800-115962200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr3:115961800-115962200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:115961800-115962200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:115961800-115962400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:115961800-115962400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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