Variant report

Variant	esv3461598
Chromosome Location	chr3:23513918-23518734
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	chr3:23505766..23508563-chr3:23511877..23514869,2	K562	blood:

Extended variants
information (count: 179 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs568393697	chr3:23513948-23513949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147818443	chr3:23513961-23513962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73821817	chr3:23513991-23513992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537045954	chr3:23513993-23513994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557368228	chr3:23514005-23514006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185252006	chr3:23514052-23514053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540022604	chr3:23514063-23514064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538481313	chr3:23514122-23514123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572862770	chr3:23514144-23514145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371676622	chr3:23514145-23514146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536000369	chr3:23514211-23514212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377401585	chr3:23514235-23514236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148912078	chr3:23514243-23514244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565684451	chr3:23514274-23514275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115301186	chr3:23514281-23514282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201630309	chr3:23514304-23514305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143598449	chr3:23514336-23514337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190129320	chr3:23514369-23514370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576244234	chr3:23514474-23514475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181186391	chr3:23514500-23514501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556757189	chr3:23514533-23514534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111750425	chr3:23514552-23514553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555037617	chr3:23514575-23514576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148099736	chr3:23514581-23514582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558759198	chr3:23514629-23514630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77326826	chr3:23514655-23514656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563012668	chr3:23514694-23514695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542963188	chr3:23514695-23514696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561148975	chr3:23514702-23514703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531798665	chr3:23514710-23514711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576005390	chr3:23514719-23514720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565067268	chr3:23514736-23514737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532172555	chr3:23514755-23514756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576502686	chr3:23514778-23514779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547230643	chr3:23514824-23514825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565596746	chr3:23514842-23514843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536157701	chr3:23514847-23514848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59235066	chr3:23514921-23514922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573764579	chr3:23515073-23515074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569562681	chr3:23515110-23515111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537082211	chr3:23515126-23515127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545009838	chr3:23515169-23515170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367877996	chr3:23515170-23515171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558685377	chr3:23515175-23515176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145058882	chr3:23515272-23515273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115819816	chr3:23515292-23515293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554411952	chr3:23515296-23515297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572672492	chr3:23515298-23515299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138847760	chr3:23515328-23515329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554371806	chr3:23515352-23515353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23498200-23516200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:23506800-23516400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:23507200-23516600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:23507400-23516200	Weak transcription	HSMMtube	muscle
5	chr3:23511600-23516400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:23512000-23523000	Weak transcription	Psoas Muscle	Psoas
7	chr3:23512000-23527400	Weak transcription	Left Ventricle	heart
8	chr3:23513000-23515600	Weak transcription	Brain Anterior Caudate	brain
9	chr3:23513000-23516200	Weak transcription	Brain Substantia Nigra	brain
10	chr3:23513400-23522800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:23513800-23516400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:23513800-23527400	Weak transcription	Right Atrium	heart
13	chr3:23515400-23517200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr3:23515800-23516600	Enhancers	Primary T cells from cord blood	blood
15	chr3:23515800-23516800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr3:23516000-23516400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr3:23516000-23516600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr3:23516000-23516600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:23516000-23517000	Enhancers	Dnd41	blood
20	chr3:23516200-23516400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:23516200-23516400	Enhancers	Brain Substantia Nigra	brain
22	chr3:23516200-23516400	Enhancers	HSMMtube	muscle
23	chr3:23516200-23516600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:23516200-23516600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr3:23516200-23516600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:23516200-23516600	Enhancers	Fetal Thymus	thymus
27	chr3:23516200-23516800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr3:23516200-23517000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr3:23516200-23517000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:23516200-23517400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:23516200-23517800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr3:23516400-23516800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr3:23516400-23516800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:23516400-23516800	Enhancers	Brain Cingulate Gyrus	brain
35	chr3:23516400-23516800	Weak transcription	HSMMtube	muscle
36	chr3:23516400-23517000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr3:23516400-23517000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:23516400-23517000	Enhancers	HMEC	breast
39	chr3:23516400-23517200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:23516400-23518800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr3:23516400-23520600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:23516600-23516800	Enhancers	Brain Anterior Caudate	brain
43	chr3:23516600-23517200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:23516600-23519200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:23516600-23520400	Weak transcription	Fetal Thymus	thymus
46	chr3:23516600-23520600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:23516800-23517000	Enhancers	HSMMtube	muscle
48	chr3:23516800-23521200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:23517000-23520600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:23517000-23520800	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links