Variant report

Variant	nsv599433
Chromosome Location	chr5:113827287-113901090
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:113831498..113833430-chr5:113835261..113837627,2	K562	blood:
2	chr3:61989811..61992472-chr5:113826858..113829345,2	MCF-7	breast:
3	chr5:113857947..113860521-chr5:113864841..113866966,2	K562	blood:
4	chr5:113895005..113897369-chr5:113898706..113900607,2	MCF-7	breast:
5	chr5:113831498..113833430-chr5:113835261..113837627,2	K562	blood:
6	chr5:113857947..113860521-chr5:113864841..113866966,2	K562	blood:
7	chr5:113895005..113897369-chr5:113898706..113900607,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM36-4	chr5:113833358-113833407	ucscGeneNc_uc003kqq_1

No data

Extended variants
information (count: 857 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6897063	chr5:113827287-113827288	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527929877	chr5:113827295-113827296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs207466340	chr5:113827296-113827297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374379983	chr5:113827315-113827316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540125715	chr5:113827415-113827416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549413374	chr5:113827485-113827486	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567660879	chr5:113827507-113827508	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537810725	chr5:113827556-113827557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79400985	chr5:113827558-113827559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571333169	chr5:113827606-113827607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370401737	chr5:113827633-113827634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193118905	chr5:113827708-113827709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113723914	chr5:113827725-113827726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553820268	chr5:113827789-113827790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572202768	chr5:113827865-113827866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536061201	chr5:113827928-113827929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184798720	chr5:113827929-113827930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572278972	chr5:113827966-113827967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375677381	chr5:113828025-113828026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543572483	chr5:113828043-113828044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564859019	chr5:113828045-113828046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576956681	chr5:113828072-113828073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545020939	chr5:113828100-113828101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188091715	chr5:113828114-113828115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560629067	chr5:113828177-113828178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527848218	chr5:113828200-113828201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533085610	chr5:113828222-113828223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549324844	chr5:113828236-113828237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553650052	chr5:113828243-113828244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561402137	chr5:113828365-113828366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573387351	chr5:113828379-113828380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542016011	chr5:113828384-113828385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191437919	chr5:113828466-113828467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143692050	chr5:113828499-113828500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370267088	chr5:113828547-113828548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35402367	chr5:113828583-113828584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375399326	chr5:113828629-113828630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538694473	chr5:113828654-113828655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555846078	chr5:113828659-113828660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560311403	chr5:113828660-113828661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527970189	chr5:113828670-113828671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368678313	chr5:113828677-113828678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1350642	chr5:113828689-113828690	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534941581	chr5:113828700-113828701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183976149	chr5:113828713-113828714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544227356	chr5:113828768-113828769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148116100	chr5:113828787-113828788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2199218	chr5:113828793-113828794	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549451045	chr5:113828819-113828820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181638199	chr5:113828839-113828840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	21339820	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
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113813800-113843400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:113814000-113833600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:113814800-113830600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:113821800-113827800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:113822400-113831400	Weak transcription	Left Ventricle	heart
6	chr5:113822400-113831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:113822400-113833600	Weak transcription	Right Ventricle	heart
8	chr5:113822800-113831400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:113823000-113833400	Strong transcription	Liver	Liver
10	chr5:113824200-113827400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:113824200-113828600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:113824200-113828800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:113825600-113834600	Weak transcription	Fetal Brain Female	brain
14	chr5:113826200-113833600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:113826600-113827400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:113827200-113830000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:113827400-113827600	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:113827400-113833400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:113827400-113834600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:113827600-113836600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:113827800-113828600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:113828200-113835800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:113828600-113833200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:113828600-113833400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:113828800-113829600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:113829600-113830400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:113829600-113834000	Weak transcription	Fetal Heart	heart
28	chr5:113830000-113833200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:113830400-113833400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:113830600-113833000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr5:113831400-113832000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:113831400-113832000	Strong transcription	Left Ventricle	heart
33	chr5:113831600-113832000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:113832000-113834600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:113832000-113835600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:113832000-113836200	Weak transcription	Left Ventricle	heart
37	chr5:113833000-113834600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:113833200-113834800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:113833200-113834800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:113833400-113836200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:113833400-113836600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:113833400-113837000	Weak transcription	Liver	Liver
43	chr5:113833400-113843400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:113834600-113839000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:113836200-113836400	Enhancers	Left Ventricle	heart
46	chr5:113836400-113836800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:113836400-113838200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr5:113837200-113838000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr5:113840000-113840400	Active TSS	Right Atrium	heart
50	chr5:113843400-113843800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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