Variant report

Variant	esv2763486
Chromosome Location	chr5:114406248-114409476
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	chr5:114408554..114410556-chr5:114418412..114420354,2	MCF-7	breast:
2	chr5:114234220..114234829-chr5:114405733..114406270,2	MCF-7	breast:

Extended variants
information (count: 171 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs13360932	chr5:114406248-114406249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185303971	chr5:114406254-114406255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116268888	chr5:114406311-114406312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115421278	chr5:114406317-114406318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148563547	chr5:114406337-114406338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546207910	chr5:114406400-114406401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4235773	chr5:114406424-114406425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531033649	chr5:114406425-114406426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547350615	chr5:114406439-114406440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72811756	chr5:114406440-114406441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564665056	chr5:114406472-114406473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34455303	chr5:114406479-114406480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531257517	chr5:114406487-114406488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367594761	chr5:114406495-114406496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547283650	chr5:114406520-114406521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141666157	chr5:114406524-114406525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190192438	chr5:114406529-114406530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201507158	chr5:114406538-114406539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548145860	chr5:114406590-114406591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530067796	chr5:114406606-114406607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13356656	chr5:114406644-114406645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537138364	chr5:114406657-114406658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547926395	chr5:114406662-114406663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181522303	chr5:114406663-114406664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539265377	chr5:114406664-114406665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552783398	chr5:114406708-114406709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572781243	chr5:114406775-114406776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541805685	chr5:114406776-114406777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548794823	chr5:114406780-114406781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147160022	chr5:114406797-114406798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78835087	chr5:114406816-114406817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570312697	chr5:114406841-114406842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567711261	chr5:114406900-114406901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140445466	chr5:114406901-114406902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371369284	chr5:114406960-114406961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375968901	chr5:114406971-114406972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369828236	chr5:114407005-114407006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144202603	chr5:114407034-114407035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529608175	chr5:114407037-114407038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147772762	chr5:114407050-114407051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4235774	chr5:114407052-114407053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537647550	chr5:114407115-114407116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4351142	chr5:114407145-114407146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550617154	chr5:114407149-114407150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570198045	chr5:114407152-114407153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539176923	chr5:114407172-114407173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187119012	chr5:114407173-114407174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527317915	chr5:114407187-114407188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566372120	chr5:114407192-114407193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547355746	chr5:114407194-114407195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114405400-114406600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:114405600-114407600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:114405600-114408200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:114405600-114408200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:114405800-114408000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:114406600-114406800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:114406600-114408200	Weak transcription	Fetal Brain Male	brain
8	chr5:114407400-114409000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:114407600-114408800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:114407600-114409200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:114407800-114409000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:114407800-114409400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:114408000-114408400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:114408000-114408800	Enhancers	Primary B cells from peripheral blood	blood
15	chr5:114408000-114408800	Enhancers	Esophagus	oesophagus
16	chr5:114408000-114409000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:114408000-114409200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:114408000-114409200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr5:114408000-114409200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:114408200-114408400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr5:114408200-114408400	Enhancers	Fetal Brain Male	brain
22	chr5:114408200-114408800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:114408200-114408800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:114408200-114409000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:114408400-114408600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:114408400-114408800	Weak transcription	Fetal Brain Male	brain
27	chr5:114408400-114409000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:114408400-114409200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:114408400-114409200	Enhancers	Brain Germinal Matrix	brain
30	chr5:114408600-114408800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr5:114408800-114409200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:114408800-114409200	Enhancers	Fetal Brain Male	brain
33	chr5:114408800-114409200	Enhancers	Fetal Lung	lung
34	chr5:114409000-114409400	Enhancers	Fetal Brain Female	brain
35	chr5:114409200-114410400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:114409200-114416200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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