Variant report

Variant	nsv1023518
Chromosome Location	chr5:104176047-104212940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 476 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541132314	chr5:104176053-104176054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147285206	chr5:104176054-104176055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532202479	chr5:104176071-104176072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552440683	chr5:104176119-104176120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187986722	chr5:104176137-104176138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531589194	chr5:104176172-104176173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149781442	chr5:104176273-104176274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567926844	chr5:104176310-104176311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191297560	chr5:104176441-104176442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183837532	chr5:104176476-104176477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570575717	chr5:104176492-104176493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187000610	chr5:104176573-104176574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556301441	chr5:104176580-104176581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200525658	chr5:104176581-104176582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62369072	chr5:104176591-104176592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551533584	chr5:104176628-104176629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558482415	chr5:104176629-104176630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542090138	chr5:104176665-104176666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201681990	chr5:104176726-104176727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577219710	chr5:104176729-104176730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572335567	chr5:104176733-104176734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79132195	chr5:104176747-104176748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184926068	chr5:104176779-104176780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566947727	chr5:104176784-104176785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111995726	chr5:104176805-104176806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116592619	chr5:104176813-104176814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10515358	chr5:104176823-104176824	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148691222	chr5:104176863-104176864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562644689	chr5:104176883-104176884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114740711	chr5:104176896-104176897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143331232	chr5:104176944-104176945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190170226	chr5:104176973-104176974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146722754	chr5:104176999-104177000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527285295	chr5:104177009-104177010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375305641	chr5:104177014-104177015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112920133	chr5:104177032-104177033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570363629	chr5:104177065-104177066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369708904	chr5:104177083-104177084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10053450	chr5:104177096-104177097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs542345164	chr5:104177100-104177101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140366162	chr5:104177116-104177117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181825520	chr5:104177128-104177129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185567202	chr5:104177135-104177136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535688441	chr5:104177148-104177149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189380220	chr5:104177170-104177171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180700412	chr5:104177204-104177205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10076639	chr5:104177211-104177212	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545884314	chr5:104177246-104177247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144029335	chr5:104177247-104177248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543901325	chr5:104177252-104177253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104173400-104179600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:104174800-104176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:104175000-104176200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:104175000-104177000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:104175000-104180000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:104175200-104176200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:104175400-104176200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr5:104175600-104178600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:104175800-104181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:104176200-104178200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:104176200-104178400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:104176200-104179600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:104177000-104178200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:104178200-104178800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:104178200-104179000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:104178400-104178800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:104178600-104179000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:104178800-104181200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:104179000-104181400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:104179000-104181800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:104179400-104180200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:104179600-104180200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:104179600-104180200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:104179600-104180200	Enhancers	Gastric	stomach
25	chr5:104180000-104182800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:104180200-104181400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:104180200-104181600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:104181200-104181800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:104181200-104182000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:104181400-104181600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:104181400-104182000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:104181600-104181800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:104181800-104182000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:104181800-104183000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:104182800-104183600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:104183000-104183200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:104183400-104184200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:104194200-104195800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr5:104194800-104195400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr5:104194800-104196400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:104195200-104195600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr5:104202000-104202600	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links