Variant report

Variant	nsv470865
Chromosome Location	chr6:149221294-149242095
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149236497..149238060-chr6:149238123..149240349,2	K562	blood:
2	chr6:149236497..149238060-chr6:149238123..149240349,2	K562	blood:
3	chr6:149190747..149193671-chr6:149226821..149229709,2	MCF-7	breast:
4	chr6:149233576..149235247-chr6:149235248..149237823,2	MCF-7	breast:
5	chr14:95600894..95601480-chr6:149231090..149231639,2	MCF-7	breast:
6	chr6:149235031..149236841-chr6:149238343..149239900,2	MCF-7	breast:
7	chr6:149235031..149236841-chr6:149238343..149239900,2	MCF-7	breast:
8	chr6:149233576..149235247-chr6:149235248..149237823,2	MCF-7	breast:

No data

Extended variants
information (count: 917 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1871921	chr6:149221294-149221295	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527581823	chr6:149221295-149221296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541252944	chr6:149221333-149221334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192953906	chr6:149221346-149221347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147108155	chr6:149221349-149221350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371503432	chr6:149221393-149221394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78303432	chr6:149221447-149221448	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs111845676	chr6:149221469-149221470	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs532145271	chr6:149221500-149221501	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs552201573	chr6:149221547-149221548	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs376618952	chr6:149221571-149221572	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs528726387	chr6:149221638-149221639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113192996	chr6:149221649-149221650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147284799	chr6:149221653-149221654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138758379	chr6:149221659-149221660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185029838	chr6:149221678-149221679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557046055	chr6:149221679-149221680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149352671	chr6:149221737-149221738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539489103	chr6:149221759-149221760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114795239	chr6:149221774-149221775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572332635	chr6:149221792-149221793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188973295	chr6:149221798-149221799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144659370	chr6:149221807-149221808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs118044839	chr6:149221824-149221825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115728072	chr6:149221865-149221866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563422630	chr6:149221969-149221970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148502580	chr6:149221983-149221984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552238196	chr6:149221987-149221988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144168553	chr6:149221989-149221990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146028210	chr6:149221997-149221998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568542217	chr6:149222044-149222045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373509848	chr6:149222088-149222089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548618645	chr6:149222109-149222110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568697746	chr6:149222156-149222157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181727821	chr6:149222172-149222173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550752955	chr6:149222180-149222181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139944234	chr6:149222190-149222191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539523977	chr6:149222195-149222196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553402740	chr6:149222201-149222202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34804796	chr6:149222224-149222225	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184845966	chr6:149222244-149222245	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535800138	chr6:149222262-149222263	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143329177	chr6:149222286-149222287	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574778491	chr6:149222289-149222290	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151172655	chr6:149222334-149222335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117777631	chr6:149222336-149222337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577042587	chr6:149222436-149222437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116133070	chr6:149222438-149222439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559367457	chr6:149222465-149222466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140160799	chr6:149222515-149222516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Gastric cancer	17908304	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
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149207800-149221400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:149207800-149237400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:149208000-149229800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:149209000-149247600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:149209800-149230800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:149210200-149230200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:149210200-149240200	Weak transcription	Primary B cells from cord blood	blood
8	chr6:149210400-149226200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:149210400-149235000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr6:149210800-149226000	Weak transcription	Esophagus	oesophagus
11	chr6:149211000-149221400	Weak transcription	Lung	lung
12	chr6:149211600-149226400	Weak transcription	Left Ventricle	heart
13	chr6:149211600-149255400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:149212200-149230200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:149212600-149222200	Weak transcription	Aorta	Aorta
16	chr6:149212600-149225000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:149213200-149233400	Weak transcription	Fetal Heart	heart
18	chr6:149213400-149222400	Weak transcription	Gastric	stomach
19	chr6:149215200-149226200	Weak transcription	Fetal Stomach	stomach
20	chr6:149215400-149221400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:149217600-149236800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:149220200-149222200	Weak transcription	HSMMtube	muscle
23	chr6:149220200-149223200	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:149220800-149222400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:149221000-149222200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:149221000-149226200	Weak transcription	Ovary	ovary
27	chr6:149221000-149230600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:149221200-149221400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:149221400-149221600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr6:149221400-149221600	ZNF genes & repeats	Lung	lung
31	chr6:149221400-149222400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:149221600-149224600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:149221600-149226400	Weak transcription	Lung	lung
34	chr6:149222200-149222400	Enhancers	Aorta	Aorta
35	chr6:149222200-149225200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:149222400-149230200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:149222400-149230600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:149224400-149227800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:149225000-149225400	Enhancers	Colon Smooth Muscle	Colon
40	chr6:149225000-149225400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:149225400-149226400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:149225400-149233400	Weak transcription	Colon Smooth Muscle	Colon
43	chr6:149226000-149226800	Enhancers	Esophagus	oesophagus
44	chr6:149226200-149226600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:149226200-149226600	Enhancers	Ovary	ovary
46	chr6:149226200-149226800	Enhancers	Fetal Muscle Trunk	muscle
47	chr6:149226200-149227200	Enhancers	Fetal Stomach	stomach
48	chr6:149226200-149227400	Enhancers	Fetal Brain Female	brain
49	chr6:149226400-149226800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr6:149226400-149226800	Enhancers	Pancreas	Pancrea

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