Variant report

Variant	nsv882635
Chromosome Location	chr5:104845257-104980355
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104926004..104928970-chr5:104930124..104932222,3	K562	blood:
2	chr5:104369743..104372595-chr5:104912590..104914639,2	K562	blood:
3	chr5:104943469..104946264-chr5:104959458..104962320,2	K562	blood:
4	chr5:104886320..104887974-chr5:104890366..104891898,2	MCF-7	breast:
5	chr5:104950620..104953196-chr5:104960454..104963137,2	K562	blood:
6	chr5:104927470..104929144-chr5:104929220..104932182,2	K562	blood:
7	chr5:104929507..104932104-chr5:104932394..104934135,2	MCF-7	breast:
8	chr5:103982040..103982621-chr5:104952113..104952873,2	MCF-7	breast:
9	chr5:104952005..104953083-chr5:105576858..105577888,8	MCF-7	breast:
10	chr5:104524711..104526370-chr5:104889242..104892104,2	K562	blood:
11	chr5:104926004..104928970-chr5:104930124..104932222,3	K562	blood:
12	chr5:104955524..104956144-chr5:105577134..105577974,2	MCF-7	breast:
13	chr5:104886320..104887974-chr5:104890366..104891898,2	MCF-7	breast:
14	chr5:104952039..104952571-chr5:105577029..105577838,2	MCF-7	breast:
15	chr5:104952188..104952864-chr5:105577091..105577886,5	MCF-7	breast:
16	chr5:104928031..104930264-chr5:104952247..104955234,2	MCF-7	breast:
17	chr5:104943469..104946264-chr5:104959458..104962320,2	K562	blood:
18	chr5:104929507..104932104-chr5:104932394..104934135,2	MCF-7	breast:
19	chr5:104950620..104953196-chr5:104960454..104963137,2	K562	blood:
20	chr4:114611671..114612572-chr5:104870661..104871343,2	MCF-7	breast:
21	chr5:104952005..104953083-chr5:105576858..105577888,9	MCF-7	breast:
22	chr5:104955261..104956180-chr5:105577014..105577827,4	MCF-7	breast:
23	chr5:104928031..104930264-chr5:104952247..104955234,2	MCF-7	breast:
24	chr5:104733236..104736068-chr5:104886596..104888346,2	MCF-7	breast:
25	chr5:104927470..104929144-chr5:104929220..104932182,2	K562	blood:

No data

Extended variants
information (count: 1730 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1730 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4340892	chr5:104845257-104845258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80231812	chr5:104845300-104845301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543393917	chr5:104845310-104845311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538717383	chr5:104845335-104845336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149565185	chr5:104845336-104845337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373838031	chr5:104845346-104845347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144650151	chr5:104845353-104845354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543011673	chr5:104845361-104845362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376513863	chr5:104845363-104845364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573563754	chr5:104845369-104845370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529550029	chr5:104845370-104845371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs70993946	chr5:104845384-104845385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374699408	chr5:104845397-104845398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543338472	chr5:104845413-104845414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559667043	chr5:104845414-104845415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528632279	chr5:104845415-104845416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143589964	chr5:104845418-104845419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180971207	chr5:104845432-104845433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556726097	chr5:104845479-104845480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571370012	chr5:104845486-104845487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558822630	chr5:104845502-104845503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185676178	chr5:104845503-104845504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116434723	chr5:104845536-104845537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567694176	chr5:104845541-104845542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190440319	chr5:104845550-104845551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115905726	chr5:104845555-104845556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6860712	chr5:104845613-104845614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35781043	chr5:104845629-104845630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114959300	chr5:104845631-104845632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28573925	chr5:104845635-104845636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs143328706	chr5:104845658-104845659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35589220	chr5:104845676-104845677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181452008	chr5:104845688-104845689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148358961	chr5:104845723-104845724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527356668	chr5:104845725-104845726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368302390	chr5:104845744-104845745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6862169	chr5:104845756-104845757	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs143103215	chr5:104845821-104845822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528772448	chr5:104845852-104845853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34480519	chr5:104845860-104845861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545152628	chr5:104845862-104845863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565187008	chr5:104845933-104845934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73776856	chr5:104845934-104845935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369813967	chr5:104845939-104845940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551089489	chr5:104845944-104845945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548836868	chr5:104845969-104845970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13179920	chr5:104846003-104846004	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549958147	chr5:104846019-104846020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546685832	chr5:104846024-104846025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565933768	chr5:104846029-104846030	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Obesity	20622171	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104844400-104845800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:104844400-104846000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:104845200-104845400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:104845200-104845800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:104845200-104846200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:104845400-104845600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:104845400-104845800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:104845400-104846000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:104845600-104846000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:104845800-104846200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:104846200-104846600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:104846600-104847000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:104846800-104847200	Active TSS	Brain Hippocampus Middle	brain
14	chr5:104846800-104847200	Enhancers	Fetal Brain Female	brain
15	chr5:104854400-104855200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr5:104856600-104867600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:104865200-104866600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:104873600-104873800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:104873800-104874800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:104874800-104875200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:104874800-104875200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:104874800-104875600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:104875200-104879800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:104875600-104880000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:104879800-104880200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:104879800-104880400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:104880000-104880400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:104884600-104886200	Weak transcription	Aorta	Aorta
29	chr5:104886400-104887000	Enhancers	Colon Smooth Muscle	Colon
30	chr5:104889000-104890600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:104890000-104890600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:104890200-104890600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:104891000-104899400	Weak transcription	Aorta	Aorta
34	chr5:104897600-104898200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr5:104898200-104898600	Enhancers	Fetal Lung	lung
36	chr5:104899400-104899600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:104899400-104899600	ZNF genes & repeats	Aorta	Aorta
38	chr5:104899400-104899800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:104917600-104918000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:104918000-104918400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:104918000-104918400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr5:104923800-104924200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr5:104928800-104929000	Enhancers	K562	blood
44	chr5:104929000-104929400	Flanking Active TSS	K562	blood
45	chr5:104929400-104930200	Enhancers	K562	blood
46	chr5:104952400-104954400	Enhancers	Fetal Lung	lung
47	chr5:104966400-104967000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:104974000-104974400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:104974000-104974600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:104974000-104974600	Enhancers	HUES64 Cell Line	embryonic stem cell

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