Variant report

Variant	nsv882485
Chromosome Location	chr5:100619084-100752325
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:99814517..99815454-chr5:100725734..100726727,3	MCF-7	breast:
2	chr5:99814495..99815041-chr5:100726099..100726630,2	MCF-7	breast:
3	chr5:99983058..99983589-chr5:100699944..100700904,2	MCF-7	breast:
4	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
5	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
6	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
7	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:
8	chr5:100726013..100726646-chr5:100925875..100926725,2	MCF-7	breast:
9	chr11:45378931..45379643-chr5:100700753..100701279,2	MCF-7	breast:
10	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
11	chr5:99959582..99960217-chr5:100683267..100683815,2	MCF-7	breast:
12	chr5:100726516..100727169-chr5:101014073..101014596,2	MCF-7	breast:

No data

Extended variants
information (count: 2070 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2070 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547606655	chr5:100620676-100620677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7712883	chr5:100620678-100620679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10055969	chr5:100620693-100620694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148044648	chr5:100620694-100620695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79163780	chr5:100620701-100620702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536985883	chr5:100620720-100620721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553102436	chr5:100620760-100620761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573589797	chr5:100620782-100620783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180977842	chr5:100620824-100620825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370371733	chr5:100620868-100620869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553126380	chr5:100620881-100620882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572627323	chr5:100620883-100620884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73170024	chr5:100620905-100620906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114136240	chr5:100620924-100620925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576672835	chr5:100620950-100620951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543790428	chr5:100620978-100620979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555689405	chr5:100621023-100621024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187027209	chr5:100621106-100621107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542141612	chr5:100621107-100621108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563413302	chr5:100621150-100621151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6881688	chr5:100621179-100621180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547456264	chr5:100621190-100621191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201035175	chr5:100621197-100621198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527361789	chr5:100624822-100624823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545526956	chr5:100624835-100624836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563553038	chr5:100624837-100624838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6874981	chr5:100624888-100624889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370550881	chr5:100625000-100625001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145761732	chr5:100625011-100625012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550949017	chr5:100625016-100625017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569545835	chr5:100625024-100625025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35358034	chr5:100625116-100625117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530369069	chr5:100625123-100625124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6874201	chr5:100625138-100625139	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184613998	chr5:100625147-100625148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556837164	chr5:100625156-100625157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189892743	chr5:100625168-100625169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140714458	chr5:100625171-100625172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559110754	chr5:100625173-100625174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180696094	chr5:100625174-100625175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149074886	chr5:100625183-100625184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186285204	chr5:100625189-100625190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111815447	chr5:100625192-100625193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201171050	chr5:100625199-100625200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562047955	chr5:100627483-100627484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529390282	chr5:100627486-100627487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115879197	chr5:100627507-100627508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550772166	chr5:100627594-100627595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565568318	chr5:100627667-100627668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568737497	chr5:100627709-100627710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	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
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100620600-100621200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:100624800-100625200	Enhancers	Hela-S3	cervix
3	chr5:100627400-100640200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:100628000-100629000	Enhancers	Dnd41	blood
5	chr5:100640200-100640600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:100640600-100641000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:100641200-100641400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:100641200-100642000	Enhancers	A549	lung
9	chr5:100642000-100642200	Flanking Active TSS	A549	lung
10	chr5:100642200-100642600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:100642200-100642600	Active TSS	A549	lung
12	chr5:100642200-100642800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:100642600-100643000	Flanking Active TSS	A549	lung
14	chr5:100643000-100643600	Enhancers	A549	lung
15	chr5:100647400-100650800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:100647600-100648400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:100647600-100648400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:100650600-100651000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:100650800-100651000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:100651000-100652400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:100651000-100652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:100652400-100653400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:100652800-100653200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:100653200-100656200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:100656200-100657000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:100656400-100657000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:100665200-100665800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:100666800-100667000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:100673000-100674200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:100673200-100674000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:100673200-100674000	Enhancers	Fetal Lung	lung
32	chr5:100673800-100674000	Enhancers	Fetal Brain Male	brain
33	chr5:100674200-100674400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:100674400-100674800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:100674800-100675000	Enhancers	Fetal Brain Male	brain
36	chr5:100674800-100675800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:100675800-100676600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:100676200-100676600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:100676600-100683200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:100683000-100683400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr5:100683200-100683600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:100683400-100683800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:100691800-100692200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:100695000-100696000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:100695400-100696000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:100696000-100699000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:100696000-100699400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:100696600-100696800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:100697200-100697600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:100697600-100699800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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