Variant report

Variant	nsv885981
Chromosome Location	chr6:63452576-63592881
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41400213..41402082-chr6:63530273..63531773,2	MCF-7	breast:
2	chr17:41399298..41401661-chr6:63530253..63531773,2	K562	blood:
3	chr6:63514284..63517012-chr6:63519494..63521413,2	MCF-7	breast:
4	chr17:41466567..41467237-chr6:63529754..63530273,2	NB4	blood:
5	chr17:41465690..41468054-chr6:63528753..63530254,3	MCF-7	breast:
6	chr17:41400811..41402656-chr6:63530253..63531773,2	MCF-7	breast:
7	chr6:63514284..63517012-chr6:63519494..63521413,2	MCF-7	breast:
8	chr17:41466229..41468054-chr6:63528754..63531753,2	K562	blood:
9	chr22:19006105..19008372-chr6:63457723..63459244,2	K562	blood:
10	chr17:41400161..41402651-chr6:63528753..63531753,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270393	chromatin interactions
ENSG00000188825	chromatin interactions

Extended variants
information (count: 6893 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:6893 , 50 per page) page: 1 2 3 4 5 6 7 ... 138

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186661118	chr6:63456252-63456253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536553361	chr6:63456257-63456258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150901444	chr6:63456306-63456307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576171461	chr6:63456326-63456327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544662815	chr6:63456331-63456332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112987958	chr6:63456387-63456388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6453741	chr6:63456393-63456394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545038585	chr6:63456404-63456405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193109109	chr6:63456409-63456410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115895253	chr6:63456425-63456426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183871100	chr6:63456444-63456445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561500876	chr6:63456451-63456452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531833947	chr6:63456472-63456473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149984882	chr6:63456565-63456566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548207854	chr6:63456820-63456821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144705811	chr6:63456892-63456893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536881387	chr6:63456905-63456906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556609045	chr6:63456908-63456909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558679338	chr6:63456914-63456915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368815995	chr6:63456953-63456954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577766013	chr6:63456959-63456960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538752596	chr6:63456967-63456968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553712255	chr6:63456984-63456985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199950579	chr6:63457066-63457067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577014700	chr6:63457077-63457078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376523547	chr6:63457110-63457111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76909984	chr6:63457204-63457205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561452153	chr6:63457210-63457211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576564753	chr6:63457214-63457215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147831721	chr6:63457244-63457245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565482566	chr6:63457259-63457260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371083042	chr6:63457293-63457294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532204748	chr6:63457295-63457296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556457839	chr6:63457313-63457314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572640881	chr6:63457361-63457362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547530218	chr6:63457387-63457388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559362869	chr6:63457397-63457398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2752997	chr6:63457398-63457399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548447049	chr6:63457399-63457400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555237460	chr6:63457432-63457433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188768441	chr6:63457481-63457482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537245271	chr6:63457515-63457516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368271249	chr6:63457521-63457522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561421991	chr6:63457569-63457570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148875961	chr6:63457573-63457574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536284408	chr6:63457727-63457728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2474878	chr6:63457733-63457734	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs28420536	chr6:63457739-63457740	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544104587	chr6:63457751-63457752	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565443449	chr6:63457827-63457828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63456200-63456600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr6:63456200-63456600	Enhancers	HepG2	liver
3	chr6:63456800-63457400	Enhancers	Brain Hippocampus Middle	brain
4	chr6:63456800-63457600	Enhancers	Brain Cingulate Gyrus	brain
5	chr6:63457000-63457400	Enhancers	Brain Anterior Caudate	brain
6	chr6:63466600-63466800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:63468600-63469000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:63469000-63470000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:63469800-63475200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:63470000-63470200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:63472600-63473200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:63473200-63475000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:63473400-63474000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:63473600-63475600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:63474000-63475000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:63474200-63475800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:63475000-63475200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:63475000-63475400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:63475000-63475400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:63475200-63475400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:63475200-63475600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:63475400-63476800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:63475800-63479800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:63476800-63477000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:63476800-63477800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:63477800-63478600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:63479800-63480200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr6:63482200-63482400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:63482400-63483600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:63483600-63484000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:63484000-63484800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:63484600-63484800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:63484600-63485600	Active TSS	Primary hematopoietic stem cells	blood
34	chr6:63484800-63485000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:63484800-63485200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:63484800-63485400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:63485000-63485400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:63485400-63485600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:63485400-63486800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:63486800-63487200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:63487000-63487400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:63487200-63500600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:63500600-63504000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:63502800-63503400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr6:63503200-63503400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:63503400-63507200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:63504000-63507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:63506200-63507000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:63506600-63507000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr6:63506600-63507400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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