Variant report

Variant	nsv882667
Chromosome Location	chr5:105398475-105507543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:105457288..105458138-chr5:105577043..105577605,2	MCF-7	breast:
2	chr5:105441681..105443385-chr5:105444748..105446798,2	MCF-7	breast:
3	chr5:105428632..105431100-chr5:105575267..105577063,2	MCF-7	breast:
4	chr5:105429270..105430863-chr5:105571173..105574118,2	MCF-7	breast:
5	chr5:105503558..105505847-chr5:105508782..105510763,2	K562	blood:
6	chr5:105441681..105443385-chr5:105444748..105446798,2	MCF-7	breast:
7	chr5:105390923..105392932-chr5:105396217..105399013,2	MCF-7	breast:

Extended variants
information (count: 2248 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2248 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181088192	chr5:105406814-105406815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564367127	chr5:105406820-105406821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551175011	chr5:105406862-105406863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142987877	chr5:105406883-105406884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530420178	chr5:105406921-105406922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74883410	chr5:105406986-105406987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567625635	chr5:105407110-105407111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146087423	chr5:105407174-105407175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140058921	chr5:105407255-105407256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185519490	chr5:105407312-105407313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77910363	chr5:105407322-105407323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190474680	chr5:105407351-105407352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563611190	chr5:105407370-105407371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183058333	chr5:105407375-105407376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538252763	chr5:105407392-105407393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531009007	chr5:105407415-105407416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554969363	chr5:105407440-105407441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574006205	chr5:105407506-105407507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149383201	chr5:105407524-105407525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559536593	chr5:105407529-105407530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374139527	chr5:105407534-105407535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368675991	chr5:105407559-105407560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545137672	chr5:105407566-105407567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538390151	chr5:105415209-105415210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558232066	chr5:105415260-105415261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574950811	chr5:105415276-105415277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543819866	chr5:105415321-105415322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35153526	chr5:105415390-105415391	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575059182	chr5:105415391-105415392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146049769	chr5:105415397-105415398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374847714	chr5:105415482-105415483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540904840	chr5:105415486-105415487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560569183	chr5:105415536-105415537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532756326	chr5:105415563-105415564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552764608	chr5:105415570-105415571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562987861	chr5:105415581-105415582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58302925	chr5:105415627-105415628	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs186440354	chr5:105415672-105415673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112375020	chr5:105415675-105415676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145307207	chr5:105415676-105415677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551624131	chr5:105415678-105415679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189678290	chr5:105415696-105415697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183052424	chr5:105415705-105415706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546867197	chr5:105415745-105415746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566277025	chr5:105415748-105415749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571479580	chr5:105415886-105415887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538453682	chr5:105415891-105415892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558293732	chr5:105415941-105415942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375338667	chr5:105415958-105415959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575017304	chr5:105416027-105416028	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
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	22037309	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105406800-105407600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:105415200-105415400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:105415400-105415800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:105415400-105416000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:105415400-105417800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:105415600-105416600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:105416000-105416200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:105416000-105417000	Enhancers	Fetal Heart	heart
9	chr5:105416000-105417200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:105416200-105419600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:105416400-105417000	Enhancers	Aorta	Aorta
12	chr5:105416400-105417200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:105416600-105419400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:105416800-105421000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:105417800-105420800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:105419200-105421000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:105419400-105420600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:105419400-105420600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:105419400-105421600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:105419600-105420000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:105419600-105420600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:105419600-105420600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:105419600-105422000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:105419600-105423000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:105419800-105420000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:105419800-105421200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:105420000-105421000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:105420000-105424200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:105420600-105420800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr5:105420600-105421400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr5:105420600-105422200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr5:105420600-105422200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr5:105420600-105422800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:105420800-105421200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr5:105420800-105422200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:105421000-105421200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:105421000-105421400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr5:105421000-105422400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:105421000-105423200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr5:105421200-105422200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr5:105421200-105422200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr5:105421200-105423000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:105421400-105422000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr5:105421400-105422000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:105421400-105422200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr5:105421600-105422200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr5:105422000-105422400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr5:105422000-105422400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr5:105422000-105422400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:105422000-105425400	Weak transcription	H9 Cell Line	embryonic stem cell

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