Variant report

Variant	nsv533083
Chromosome Location	chr6:62531786-62877253
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	chr6:62545749..62547961-chr6:62548535..62550868,2	MCF-7	breast:
2	chr6:62852057..62854070-chr6:62855241..62858140,2	MCF-7	breast:
3	chr6:57445367..57446031-chr6:62860058..62860574,2	MCF-7	breast:
4	chr6:62761124..62761875-chrX:154244873..154245663,2	MCF-7	breast:
5	chr6:62776601..62778161-chr6:62783168..62785146,2	K562	blood:
6	chr20:45985491..45988318-chr6:62588370..62590548,2	MCF-7	breast:
7	chr6:62852057..62854070-chr6:62855241..62858140,2	MCF-7	breast:
8	chr6:62545749..62547961-chr6:62548535..62550868,2	MCF-7	breast:
9	chr3:113873972..113874534-chr6:62859704..62860673,2	MCF-7	breast:
10	chr6:57766644..57767228-chr6:62859661..62860581,2	MCF-7	breast:
11	chr6:62519001..62519629-chr6:62859955..62860555,3	MCF-7	breast:
12	chr6:62621722..62623294-chr6:62626600..62628744,2	MCF-7	breast:
13	chr6:62776601..62778161-chr6:62783168..62785146,2	K562	blood:
14	chr6:62621722..62623294-chr6:62626600..62628744,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101040	chromatin interactions

Extended variants
information (count: 13801 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:13801 , 50 per page) page: 1 2 3 4 5 6 7 ... 277

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563422361	chr6:62531871-62531872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530679571	chr6:62531894-62531895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138305080	chr6:62531900-62531901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570694163	chr6:62531906-62531907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185958465	chr6:62531963-62531964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189928286	chr6:62532051-62532052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565725495	chr6:62532101-62532102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536291568	chr6:62532107-62532108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554595107	chr6:62532114-62532115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59899220	chr6:62532125-62532126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs181236364	chr6:62532134-62532135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558907248	chr6:62532155-62532156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577396153	chr6:62532182-62532183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534992696	chr6:62532196-62532197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186049667	chr6:62532249-62532250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574483180	chr6:62532250-62532251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571607	chr6:62532253-62532254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190969920	chr6:62532289-62532290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575261450	chr6:62532304-62532305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9445453	chr6:62532306-62532307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564108197	chr6:62532332-62532333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142606739	chr6:62532357-62532358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386701908	chr6:62532420-62532421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79758240	chr6:62532422-62532423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529995754	chr6:62532463-62532464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144038112	chr6:62532481-62532482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535924557	chr6:62532532-62532533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148692563	chr6:62532589-62532590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574538	chr6:62532602-62532603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552674895	chr6:62532613-62532614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570948071	chr6:62532617-62532618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183993412	chr6:62532619-62532620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553658187	chr6:62532638-62532639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575221657	chr6:62532640-62532641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141309162	chr6:62532685-62532686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188636697	chr6:62532747-62532748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575226624	chr6:62532782-62532783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566464361	chr6:62532805-62532806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75109643	chr6:62532807-62532808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191116330	chr6:62532851-62532852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114733729	chr6:62532865-62532866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114336779	chr6:62532866-62532867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558477520	chr6:62532869-62532870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375575153	chr6:62532881-62532882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368791927	chr6:62532900-62532901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79564958	chr6:62532908-62532909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78904724	chr6:62532909-62532910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75008868	chr6:62532953-62532954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs16899888	chr6:62532963-62532964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182860987	chr6:62533034-62533035	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:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62521800-62574000	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62530000-62534200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:62534200-62534400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:62534400-62536200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:62536200-62536600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:62543200-62545400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:62543800-62545200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:62543800-62545400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:62545400-62545800	Enhancers	Fetal Brain Male	brain
10	chr6:62550400-62550600	Enhancers	Fetal Kidney	kidney
11	chr6:62550600-62551600	Weak transcription	Fetal Kidney	kidney
12	chr6:62551600-62552000	Enhancers	Fetal Kidney	kidney
13	chr6:62562800-62564000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:62564000-62564200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr6:62564000-62564200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:62564200-62564400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:62564400-62585000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:62564600-62565200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:62566400-62566800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:62566400-62567000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:62566600-62567000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:62574000-62575400	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr6:62574400-62576200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:62574800-62575200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:62575000-62577800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:62575400-62667600	Weak transcription	Primary B cells from cord blood	blood
27	chr6:62575800-62576400	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr6:62576200-62576400	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr6:62576400-62581200	Weak transcription	Fetal Intestine Large	intestine
30	chr6:62576600-62583400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:62577000-62578200	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr6:62578200-62580600	Strong transcription	Fetal Intestine Small	intestine
33	chr6:62578600-62579400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:62579800-62580600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:62580600-62582400	Weak transcription	Fetal Intestine Small	intestine
36	chr6:62585000-62585200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:62594200-62594800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:62594400-62594800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:62594400-62597800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:62594600-62597800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr6:62594800-62595200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr6:62594800-62596800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:62595000-62596200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:62595200-62596000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:62595200-62597000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:62595200-62597800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:62595200-62598400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:62595400-62596000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:62595400-62596000	Enhancers	Primary hematopoietic stem cells	blood
50	chr6:62595400-62596200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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