Variant report

Variant	nsv885982
Chromosome Location	chr6:63460047-63658063
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41399298..41401661-chr6:63530253..63531773,2	K562	blood:
2	chr17:41400213..41402082-chr6:63530273..63531773,2	MCF-7	breast:
3	chr17:41465690..41468054-chr6:63528753..63530254,3	MCF-7	breast:
4	chr6:63601380..63602369-chr6:63983063..63983726,2	MCF-7	breast:
5	chr17:41400161..41402651-chr6:63528753..63531753,3	K562	blood:
6	chr17:41400811..41402656-chr6:63530253..63531773,2	MCF-7	breast:
7	chr5:163654633..163655494-chr6:63642308..63642940,2	MCF-7	breast:
8	chr6:63514284..63517012-chr6:63519494..63521413,2	MCF-7	breast:
9	chr6:63514284..63517012-chr6:63519494..63521413,2	MCF-7	breast:
10	chr6:63611819..63614221-chr6:64475129..64477483,2	MCF-7	breast:
11	chr6:62518549..62519303-chr6:63600674..63601315,2	MCF-7	breast:
12	chr17:41466567..41467237-chr6:63529754..63530273,2	NB4	blood:
13	chr17:41466229..41468054-chr6:63528754..63531753,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188825	chromatin interactions

Extended variants
information (count: 7915 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:7915 , 50 per page) page: 1 2 3 4 5 6 7 ... 159

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562286388	chr6:63466637-63466638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs529443967	chr6:63466641-63466642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs550716569	chr6:63466652-63466653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs144876386	chr6:63466679-63466680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs35144960	chr6:63466703-63466704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184534625	chr6:63466723-63466724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs567793188	chr6:63466724-63466725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs150833739	chr6:63468609-63468610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561006026	chr6:63468642-63468643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2753015	chr6:63468651-63468652	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs10046150	chr6:63468662-63468663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564907601	chr6:63468670-63468671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138131527	chr6:63468678-63468679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9293968	chr6:63468687-63468688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565719041	chr6:63468700-63468701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529876810	chr6:63468713-63468714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181712380	chr6:63468747-63468748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567375891	chr6:63468754-63468755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373694226	chr6:63468787-63468788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370934931	chr6:63468818-63468819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537957461	chr6:63468847-63468848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556103379	chr6:63468860-63468861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185091542	chr6:63468867-63468868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538942941	chr6:63468888-63468889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116421991	chr6:63468889-63468890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572538295	chr6:63468897-63468898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543293932	chr6:63469007-63469008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564005801	chr6:63469026-63469027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576168580	chr6:63469056-63469057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531236454	chr6:63469059-63469060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189941516	chr6:63469096-63469097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76634241	chr6:63469101-63469102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79905935	chr6:63469103-63469104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564702218	chr6:63469115-63469116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576803678	chr6:63469219-63469220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76623968	chr6:63469276-63469277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540956109	chr6:63469319-63469320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559643128	chr6:63469379-63469380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114392161	chr6:63469414-63469415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140053394	chr6:63469472-63469473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563158020	chr6:63469496-63469497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371090326	chr6:63469501-63469502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181162066	chr6:63469508-63469509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550278809	chr6:63469566-63469567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374597688	chr6:63469617-63469618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143375697	chr6:63469645-63469646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539064976	chr6:63469653-63469654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58021389	chr6:63469661-63469662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56819264	chr6:63469662-63469663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112634483	chr6:63469663-63469664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63466600-63466800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:63468600-63469000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:63469000-63470000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:63469800-63475200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:63470000-63470200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:63472600-63473200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:63473200-63475000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:63473400-63474000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:63473600-63475600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:63474000-63475000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:63474200-63475800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:63475000-63475200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:63475000-63475400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:63475000-63475400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr6:63475200-63475400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:63475200-63475600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:63475400-63476800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:63475800-63479800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:63476800-63477000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:63476800-63477800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:63477800-63478600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:63479800-63480200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr6:63482200-63482400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:63482400-63483600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:63483600-63484000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:63484000-63484800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:63484600-63484800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:63484600-63485600	Active TSS	Primary hematopoietic stem cells	blood
29	chr6:63484800-63485000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:63484800-63485200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:63484800-63485400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:63485000-63485400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:63485400-63485600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:63485400-63486800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:63486800-63487200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:63487000-63487400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:63487200-63500600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:63500600-63504000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:63502800-63503400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr6:63503200-63503400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:63503400-63507200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr6:63504000-63507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:63506200-63507000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:63506600-63507000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:63506600-63507400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:63507000-63507200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:63507200-63507400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:63507200-63507600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:63507200-63509400	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr6:63507200-63509800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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