Variant report

Variant	esv2763871
Chromosome Location	chr5:104307261-104336210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104302225..104304920-chr5:104306783..104309637,2	MCF-7	breast:
2	chr5:104308244..104309781-chr5:104310392..104313289,2	K562	blood:
3	chr5:104308244..104309781-chr5:104310392..104313289,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-7	chr5:104315392-104315477	ENSG00000253584
2	lnc-NUDT12-7	chr5:104308988-104309359	ENSG00000253584
3	lnc-NUDT12-7	chr5:104311375-104311586	ENSG00000253584

No data

Extended variants
information (count: 350 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369832382	chr5:104307425-104307426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571591839	chr5:104307450-104307451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374029376	chr5:104307504-104307505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537449511	chr5:104307510-104307511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572101924	chr5:104307533-104307534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192398373	chr5:104307537-104307538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370987461	chr5:104307547-104307548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112181353	chr5:104307556-104307557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535289341	chr5:104307560-104307561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565462642	chr5:104309006-104309007	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs531189481	chr5:104309020-104309021	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs115150908	chr5:104309026-104309027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs560840883	chr5:104309041-104309042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs560989171	chr5:104309060-104309061	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs115158810	chr5:104309080-104309081	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs150441471	chr5:104309109-104309110	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs566942950	chr5:104309113-104309114	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs534531263	chr5:104309124-104309125	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs35659592	chr5:104309137-104309138	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs549686713	chr5:104309149-104309150	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs111511451	chr5:104309170-104309171	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs551523640	chr5:104309173-104309174	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs34726222	chr5:104309176-104309177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs138202379	chr5:104309209-104309210	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs185225336	chr5:104309252-104309253	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs557281913	chr5:104309255-104309256	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs573725587	chr5:104309278-104309279	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs559639423	chr5:104309291-104309292	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs553138469	chr5:104309301-104309302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs563107057	chr5:104309309-104309310	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs572867658	chr5:104309328-104309329	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs545274395	chr5:104309331-104309332	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs189187474	chr5:104309332-104309333	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs528136726	chr5:104309359-104309360	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs535065640	chr5:104310034-104310035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544381194	chr5:104310060-104310061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376168836	chr5:104310084-104310085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554856303	chr5:104310117-104310118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574766764	chr5:104310179-104310180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180924435	chr5:104310180-104310181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186152330	chr5:104310209-104310210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532394535	chr5:104310226-104310227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199991000	chr5:104310274-104310275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149500357	chr5:104310290-104310291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144018030	chr5:104310291-104310292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112368245	chr5:104310294-104310295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191350510	chr5:104310377-104310378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35167046	chr5:104310420-104310421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550760556	chr5:104310447-104310448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534951177	chr5:104310487-104310488	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104307400-104307600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:104310000-104310200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:104310000-104310600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:104310200-104310600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:104310600-104312800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:104310600-104312800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:104312800-104313200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:104312800-104313400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:104312800-104313600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:104313000-104313600	Enhancers	Aorta	Aorta
11	chr5:104321200-104321400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:104322000-104322200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:104322000-104323400	Enhancers	Fetal Intestine Small	intestine
14	chr5:104322000-104323600	Enhancers	Fetal Intestine Large	intestine
15	chr5:104322600-104324600	Enhancers	K562	blood
16	chr5:104324800-104326000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:104325200-104326400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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