Variant report

Variant	nsv538267
Chromosome Location	chr6:62787337-62913561
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:62852057..62854070-chr6:62855241..62858140,2	MCF-7	breast:
2	chr6:62852057..62854070-chr6:62855241..62858140,2	MCF-7	breast:
3	chr3:113873972..113874534-chr6:62859704..62860673,2	MCF-7	breast:
4	chr6:57445367..57446031-chr6:62860058..62860574,2	MCF-7	breast:
5	chr6:62519001..62519629-chr6:62859955..62860555,3	MCF-7	breast:
6	chr6:57766644..57767228-chr6:62859661..62860581,2	MCF-7	breast:

Extended variants
information (count: 4387 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:4387 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539378024	chr6:62787356-62787357	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs71568786	chr6:62787372-62787373	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs145321283	chr6:62787377-62787378	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572941464	chr6:62787389-62787390	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs533631464	chr6:62787400-62787401	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557690322	chr6:62787437-62787438	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183278904	chr6:62787518-62787519	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370357098	chr6:62787522-62787523	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185688210	chr6:62787558-62787559	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562722537	chr6:62787586-62787587	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs374705236	chr6:62787595-62787596	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs576246877	chr6:62787596-62787597	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs575555768	chr6:62787603-62787604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190593030	chr6:62787621-62787622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531155314	chr6:62787649-62787650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73758651	chr6:62787652-62787653	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528622757	chr6:62787661-62787662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550751263	chr6:62787680-62787681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182420437	chr6:62787681-62787682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116483701	chr6:62787709-62787710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187155935	chr6:62787770-62787771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192244209	chr6:62787823-62787824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183052521	chr6:62787835-62787836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539743463	chr6:62787870-62787871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551385049	chr6:62787900-62787901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566328768	chr6:62787902-62787903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533902749	chr6:62787904-62787905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555473766	chr6:62787920-62787921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529335999	chr6:62787921-62787922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573882284	chr6:62787930-62787931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537995995	chr6:62787933-62787934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188747307	chr6:62787942-62787943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541524427	chr6:62787963-62787964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147638288	chr6:62787991-62787992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193215409	chr6:62788027-62788028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564522296	chr6:62788031-62788032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141993663	chr6:62788041-62788042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573128869	chr6:62788062-62788063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540335044	chr6:62788079-62788080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184933398	chr6:62788085-62788086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73758652	chr6:62788089-62788090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144176331	chr6:62788094-62788095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562919776	chr6:62788125-62788126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533290338	chr6:62788126-62788127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374830060	chr6:62788134-62788135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140216782	chr6:62788159-62788160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570161024	chr6:62788189-62788190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527239428	chr6:62788213-62788214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372928008	chr6:62788266-62788267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567406325	chr6:62788341-62788342	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:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62784000-62793000	Weak transcription	Fetal Intestine Small	intestine
2	chr6:62784200-62798400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:62784200-62802600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:62784600-62793400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:62785200-62790800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:62785400-62789800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:62785800-62789400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:62787200-62787600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:62787200-62788000	Strong transcription	Primary B cells from cord blood	blood
10	chr6:62787600-62787800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:62787800-62793200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:62788000-62799400	Weak transcription	Primary B cells from cord blood	blood
13	chr6:62790600-62790800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:62793000-62793600	Strong transcription	Fetal Intestine Small	intestine
15	chr6:62793200-62793400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:62793200-62793800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:62793400-62793600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:62793400-62793600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:62793600-62795200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:62793600-62798400	Weak transcription	Fetal Intestine Small	intestine
21	chr6:62793800-62794600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:62798200-62800600	Enhancers	Fetal Intestine Large	intestine
23	chr6:62798400-62798800	Strong transcription	Fetal Intestine Small	intestine
24	chr6:62798400-62802200	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:62798800-62799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:62798800-62799600	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr6:62799400-62800400	Enhancers	Primary B cells from cord blood	blood
28	chr6:62799600-62801000	Weak transcription	Fetal Intestine Small	intestine
29	chr6:62800400-62801200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr6:62800800-62801200	Enhancers	Spleen	Spleen
31	chr6:62801000-62801200	Enhancers	Fetal Intestine Small	intestine
32	chr6:62801200-62802200	Enhancers	Primary B cells from cord blood	blood
33	chr6:62802200-62845000	Weak transcription	Primary B cells from cord blood	blood
34	chr6:62807800-62812400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:62808200-62810800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:62809200-62809800	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr6:62809400-62809800	Active TSS	Gastric	stomach
38	chr6:62809600-62813200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:62809800-62812200	Weak transcription	Fetal Intestine Small	intestine
40	chr6:62812200-62813800	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr6:62812400-62813800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:62813200-62813400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:62813800-62814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:62817600-62817800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
45	chr6:62823400-62823800	Enhancers	Fetal Heart	heart
46	chr6:62825200-62825600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:62825600-62826600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:62826600-62829200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:62827800-62828000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:62829200-62831000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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