Variant report

Variant	nsv882648
Chromosome Location	chr5:105022790-105209225
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:105207869..105209977-chr5:105216907..105218909,2	MCF-7	breast:
2	chr5:105176397..105179670-chr5:105180038..105183238,3	K562	blood:
3	chr5:105206220..105208070-chr5:105267009..105269408,2	K562	blood:
4	chr5:105020604..105022819-chr5:105026023..105028609,2	K562	blood:
5	chr5:105204746..105207653-chr5:105212671..105215343,2	K562	blood:
6	chr5:105201689..105204233-chr5:105212848..105215764,2	K562	blood:
7	chr5:105087530..105089094-chr6:26156464..26158015,2	K562	blood:
8	chr5:105207681..105208221-chr5:105577167..105577841,2	MCF-7	breast:
9	chr5:105110281..105111988-chr5:105184711..105186655,2	K562	blood:
10	chr5:105069835..105071621-chr5:105082502..105084277,2	K562	blood:
11	chr5:105069835..105071621-chr5:105082502..105084277,2	K562	blood:
12	chr5:105176397..105179670-chr5:105180038..105183238,3	K562	blood:
13	chr5:105020604..105022819-chr5:105026023..105028609,2	K562	blood:
14	chr5:105204183..105207083-chr5:105211855..105213539,2	MCF-7	breast:
15	chr5:104726359..104728666-chr5:105131284..105132821,2	K562	blood:
16	chr5:105110281..105111988-chr5:105184711..105186655,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168298	chromatin interactions

Extended variants
information (count: 2504 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2504 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1480583	chr5:105022790-105022791	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561033714	chr5:105022822-105022823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1480584	chr5:105022823-105022824	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530067304	chr5:105022924-105022925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1480585	chr5:105022939-105022940	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565655349	chr5:105022992-105022993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528349478	chr5:105022993-105022994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551290388	chr5:105023050-105023051	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571468014	chr5:105023055-105023056	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536844757	chr5:105023096-105023097	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192425571	chr5:105023126-105023127	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114662911	chr5:105023128-105023129	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1480586	chr5:105023131-105023132	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183423003	chr5:105023156-105023157	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573585193	chr5:105023183-105023184	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111571399	chr5:105023194-105023195	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1480587	chr5:105023200-105023201	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558981607	chr5:105023217-105023218	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs34561069	chr5:105023296-105023297	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370405658	chr5:105023336-105023337	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs139976420	chr5:105023369-105023370	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs145493594	chr5:105023399-105023400	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550795813	chr5:105023448-105023449	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs561070540	chr5:105023455-105023456	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs35766492	chr5:105023464-105023465	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540243164	chr5:105023495-105023496	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs35330513	chr5:105023512-105023513	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567704850	chr5:105023518-105023519	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111944743	chr5:105023532-105023533	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs551694494	chr5:105023538-105023539	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373154630	chr5:105023540-105023541	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs34747197	chr5:105023547-105023548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs114715299	chr5:105023579-105023580	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs555535580	chr5:105023588-105023589	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs574184547	chr5:105023608-105023609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542015867	chr5:105023618-105023619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187851427	chr5:105023637-105023638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536311350	chr5:105023643-105023644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546619775	chr5:105023650-105023651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566506911	chr5:105023652-105023653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538243571	chr5:105023661-105023662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530242035	chr5:105023687-105023688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192330537	chr5:105023692-105023693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575822507	chr5:105023694-105023695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538068123	chr5:105023706-105023707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554705067	chr5:105023785-105023786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184707851	chr5:105023788-105023789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34595801	chr5:105023802-105023803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189633297	chr5:105023803-105023804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151032826	chr5:105023804-105023805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105010600-105033400	Weak transcription	Aorta	Aorta
2	chr5:105022000-105023200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:105022200-105023000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:105022200-105024800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:105022200-105024800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:105022400-105023200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:105022400-105023800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:105022400-105024600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:105022600-105023400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:105022800-105023000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:105022800-105023000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:105023000-105023200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:105023000-105023200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:105023000-105023200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:105023000-105023400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:105023000-105023600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr5:105023200-105023600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr5:105023200-105023800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:105023200-105024000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:105023200-105024200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:105023200-105025000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:105023200-105033800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:105023400-105023800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:105023400-105024600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:105023600-105024600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:105023600-105024600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:105023800-105024200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:105023800-105024600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:105023800-105024600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:105024000-105024400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:105024000-105024400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:105024200-105024600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:105024200-105024800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:105024200-105025800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:105024200-105025800	Enhancers	Fetal Lung	lung
36	chr5:105024600-105025400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:105024600-105031200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:105024800-105025600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:105025400-105025600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:105025600-105025800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:105025600-105031400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:105025800-105031200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:105031200-105032000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:105031200-105032000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:105031200-105032200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr5:105031400-105031600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:105031400-105032000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr5:105031400-105032200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:105031600-105032000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr5:105031600-105032000	Enhancers	H1 Cell Line	embryonic stem cell

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