Variant report

Variant	nsv830822
Chromosome Location	chr6:141387803-141542998
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:141457381..141459115-chr6:141461082..141463007,2	MCF-7	breast:
2	chr6:141474693..141476532-chr6:141479215..141481575,2	MCF-7	breast:
3	chr6:141450586..141452410-chr6:141456165..141457885,2	K562	blood:
4	chr6:141466947..141468620-chr6:141486006..141488236,2	K562	blood:
5	chr6:141535806..141537434-chr6:141539065..141540907,2	K562	blood:
6	chr6:141450586..141452410-chr6:141456165..141457885,2	K562	blood:
7	chr6:141368847..141371211-chr6:141441776..141443428,2	K562	blood:
8	chr6:141474693..141476532-chr6:141479215..141481575,2	MCF-7	breast:
9	chr10:79621997..79624207-chr6:141528494..141531301,2	MCF-7	breast:
10	chr6:141457381..141459115-chr6:141461082..141463007,2	MCF-7	breast:
11	chr6:141535806..141537434-chr6:141539065..141540907,2	K562	blood:
12	chr6:141466947..141468620-chr6:141486006..141488236,2	K562	blood:

No data

Extended variants
information (count: 3779 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3779 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551720727	chr6:141395440-141395441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184249470	chr6:141395488-141395489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577316814	chr6:141395497-141395498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139026458	chr6:141395512-141395513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149890785	chr6:141395585-141395586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72983178	chr6:141395621-141395622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187270881	chr6:141395684-141395685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561123873	chr6:141395693-141395694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149061520	chr6:141395712-141395713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529528322	chr6:141395721-141395722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3980208	chr6:141395744-141395745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370995470	chr6:141395751-141395752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571201141	chr6:141395799-141395800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532141565	chr6:141395820-141395821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs34688182	chr6:141395853-141395854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs549330911	chr6:141395904-141395905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs9484463	chr6:141395908-141395909	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565956887	chr6:141395913-141395914	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs115105256	chr6:141395958-141395959	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550790654	chr6:141395973-141395974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561785930	chr6:141395986-141395987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570055143	chr6:141396042-141396043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs76713305	chr6:141396075-141396076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs558712803	chr6:141396197-141396198	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs542424000	chr6:141396199-141396200	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577156393	chr6:141396212-141396213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59416968	chr6:141396225-141396226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534824870	chr6:141396230-141396231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553384217	chr6:141396248-141396249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193266810	chr6:141396277-141396278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73581155	chr6:141396302-141396303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185398422	chr6:141396353-141396354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576432564	chr6:141396380-141396381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73776867	chr6:141396413-141396414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs201175478	chr6:141396469-141396470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532102908	chr6:141396472-141396473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547180314	chr6:141396514-141396515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570507950	chr6:141396547-141396548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377594301	chr6:141396620-141396621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529732023	chr6:141396634-141396635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2328183	chr6:141396646-141396647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148389582	chr6:141396685-141396686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140422919	chr6:141396700-141396701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552804103	chr6:141396721-141396722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570758559	chr6:141396739-141396740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539735890	chr6:141396747-141396748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150405668	chr6:141396753-141396754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546907784	chr6:141396788-141396789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553080742	chr6:141396819-141396820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575030398	chr6:141396856-141396857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	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
Colorectal cancer	16272173	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141395400-141398800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:141395800-141396200	ZNF genes & repeats	Aorta	Aorta
3	chr6:141398000-141398200	Enhancers	HepG2	liver
4	chr6:141398200-141398800	Enhancers	Pancreas	Pancrea
5	chr6:141398200-141398800	Flanking Active TSS	HepG2	liver
6	chr6:141398200-141399400	Enhancers	Ovary	ovary
7	chr6:141398600-141399200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:141398800-141399000	Active TSS	HepG2	liver
9	chr6:141398800-141399400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:141398800-141399400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:141399200-141399600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:141399200-141399600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:141399200-141400200	Enhancers	Liver	Liver
14	chr6:141399600-141399800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:141400200-141400400	Flanking Active TSS	Liver	Liver
16	chr6:141400400-141403200	Enhancers	Liver	Liver
17	chr6:141403200-141404400	Weak transcription	Liver	Liver
18	chr6:141404400-141405800	Enhancers	Liver	Liver
19	chr6:141405800-141408800	Weak transcription	Liver	Liver
20	chr6:141408000-141408400	Enhancers	Fetal Brain Female	brain
21	chr6:141408800-141410200	Enhancers	Liver	Liver
22	chr6:141419800-141426800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:141422000-141422200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:141423200-141423600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:141423200-141424600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:141423800-141425000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:141424200-141424600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:141424200-141424800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:141424200-141424800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr6:141424200-141424800	Enhancers	HMEC	breast
31	chr6:141424200-141424800	Enhancers	HUVEC	blood vessel
32	chr6:141424200-141425000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:141424200-141425000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:141424200-141425000	Enhancers	NHDF-Ad	bronchial
35	chr6:141424600-141424800	Enhancers	Osteobl	bone
36	chr6:141424600-141425000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:141424600-141427000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:141424800-141425000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:141424800-141426600	Weak transcription	HMEC	breast
40	chr6:141424800-141426800	Weak transcription	Osteobl	bone
41	chr6:141424800-141428400	Weak transcription	HUVEC	blood vessel
42	chr6:141424800-141431600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:141425000-141426600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:141425000-141426600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:141425000-141426600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:141425000-141426600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:141425000-141426600	Weak transcription	NHDF-Ad	bronchial
48	chr6:141425000-141431600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:141426000-141426800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:141426200-141426400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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