Variant report

Variant	nsv1029562
Chromosome Location	chr6:62515908-62854722
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:62518549..62519303-chr6:63600674..63601315,2	MCF-7	breast:
2	chr6:62545749..62547961-chr6:62548535..62550868,2	MCF-7	breast:
3	chr6:62545749..62547961-chr6:62548535..62550868,2	MCF-7	breast:
4	chr6:62761124..62761875-chrX:154244873..154245663,2	MCF-7	breast:
5	chr6:62621722..62623294-chr6:62626600..62628744,2	MCF-7	breast:
6	chr6:62621722..62623294-chr6:62626600..62628744,2	MCF-7	breast:
7	chr6:62776601..62778161-chr6:62783168..62785146,2	K562	blood:
8	chr6:62776601..62778161-chr6:62783168..62785146,2	K562	blood:
9	chr20:45985491..45988318-chr6:62588370..62590548,2	MCF-7	breast:
10	chr6:62520772..62522597-chr6:62523953..62526303,2	K562	blood:
11	chr6:62852057..62854070-chr6:62855241..62858140,2	MCF-7	breast:
12	chr6:62518763..62519292-chr6:62993656..62994388,2	MCF-7	breast:
13	chr6:62520772..62522597-chr6:62523953..62526303,2	K562	blood:
14	chr6:62519001..62519629-chr6:62859955..62860555,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101040	chromatin interactions

Extended variants
information (count: 13364 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:13364 , 50 per page) page: 1 2 3 4 5 6 7 ... 268

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139765454	chr6:62520019-62520020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143429044	chr6:62520020-62520021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573255163	chr6:62520037-62520038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184208659	chr6:62520080-62520081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576016195	chr6:62520102-62520103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1743457	chr6:62520127-62520128	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs189083673	chr6:62520130-62520131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181255123	chr6:62520165-62520166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559970224	chr6:62521842-62521843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192467790	chr6:62521885-62521886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546942758	chr6:62521922-62521923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184855606	chr6:62521981-62521982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529320140	chr6:62522043-62522044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373231062	chr6:62522075-62522076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374939427	chr6:62522111-62522112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533059598	chr6:62522144-62522145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551084934	chr6:62522146-62522147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188845097	chr6:62522212-62522213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193186743	chr6:62522214-62522215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552011340	chr6:62522223-62522224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567136090	chr6:62522232-62522233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544832582	chr6:62522236-62522237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73476635	chr6:62522238-62522239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9453107	chr6:62522251-62522252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs563190980	chr6:62522261-62522262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369354194	chr6:62522298-62522299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537890715	chr6:62522324-62522325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555840157	chr6:62522331-62522332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530707564	chr6:62522389-62522390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531947434	chr6:62522405-62522406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544766696	chr6:62522449-62522450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376954441	chr6:62522505-62522506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140145763	chr6:62522561-62522562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572231583	chr6:62522571-62522572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372940941	chr6:62522618-62522619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534307939	chr6:62522657-62522658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548901177	chr6:62522659-62522660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542539771	chr6:62522664-62522665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115166884	chr6:62522672-62522673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529269008	chr6:62522698-62522699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550996827	chr6:62522699-62522700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547889604	chr6:62522711-62522712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562928672	chr6:62522718-62522719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533482730	chr6:62522757-62522758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146777578	chr6:62522786-62522787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566930494	chr6:62522788-62522789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370449184	chr6:62522791-62522792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549404854	chr6:62522795-62522796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567999205	chr6:62522838-62522839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568098798	chr6:62522875-62522876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62520000-62520200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:62521800-62574000	Weak transcription	Primary B cells from cord blood	blood
3	chr6:62524200-62524800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:62524400-62525000	Enhancers	Primary hematopoietic stem cells	blood
5	chr6:62524600-62525600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:62524600-62526200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:62524800-62525800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:62525000-62525400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr6:62525400-62525800	Enhancers	Primary hematopoietic stem cells	blood
10	chr6:62525800-62526400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:62526400-62531200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:62529600-62530000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:62530000-62534200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:62531200-62531400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:62534200-62534400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:62534400-62536200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:62536200-62536600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:62543200-62545400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:62543800-62545200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:62543800-62545400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:62545400-62545800	Enhancers	Fetal Brain Male	brain
22	chr6:62550400-62550600	Enhancers	Fetal Kidney	kidney
23	chr6:62550600-62551600	Weak transcription	Fetal Kidney	kidney
24	chr6:62551600-62552000	Enhancers	Fetal Kidney	kidney
25	chr6:62562800-62564000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:62564000-62564200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr6:62564000-62564200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:62564200-62564400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:62564400-62585000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:62564600-62565200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:62566400-62566800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:62566400-62567000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:62566600-62567000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:62574000-62575400	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr6:62574400-62576200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:62574800-62575200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:62575000-62577800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:62575400-62667600	Weak transcription	Primary B cells from cord blood	blood
39	chr6:62575800-62576400	ZNF genes & repeats	Fetal Intestine Small	intestine
40	chr6:62576200-62576400	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr6:62576400-62581200	Weak transcription	Fetal Intestine Large	intestine
42	chr6:62576600-62583400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr6:62577000-62578200	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr6:62578200-62580600	Strong transcription	Fetal Intestine Small	intestine
45	chr6:62578600-62579400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:62579800-62580600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:62580600-62582400	Weak transcription	Fetal Intestine Small	intestine
48	chr6:62585000-62585200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:62594200-62594800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:62594400-62594800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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