Variant report

Variant	nsv464068
Chromosome Location	chr6:142263201-142316177
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:142299018..142301921-chr6:142303964..142305930,3	K562	blood:
2	chr6:142311068..142312761-chr6:142315282..142317322,2	K562	blood:
3	chr6:142301363..142303656-chr6:142306622..142308997,2	MCF-7	breast:
4	chr6:142310115..142310645-chr6:142364498..142365481,2	MCF-7	breast:
5	chr6:142310101..142311090-chr6:142528288..142529452,4	K562	blood:
6	chr6:141998651..141999214-chr6:142310161..142310947,2	MCF-7	breast:
7	chr6:142299018..142301921-chr6:142303964..142305930,3	K562	blood:
8	chr6:142311068..142312761-chr6:142315282..142317322,2	K562	blood:
9	chr6:142309853..142311057-chr6:142366249..142367364,12	MCF-7	breast:
10	chr6:142310160..142310940-chr6:142392407..142393314,2	MCF-7	breast:
11	chr6:142310081..142310988-chr6:142433318..142434235,4	K562	blood:
12	chr6:142301363..142303656-chr6:142306622..142308997,2	MCF-7	breast:
13	chr19:38893517..38894326-chr6:142280626..142281137,2	MCF-7	breast:
14	chr6:142310139..142312531-chr6:142319798..142322173,2	K562	blood:
15	chr6:142310166..142311225-chr6:142433178..142434296,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130244	chromatin interactions

Extended variants
information (count: 1355 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1355 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574169065	chr6:142272422-142272423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189246818	chr6:142272438-142272439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148419325	chr6:142272461-142272462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9389962	chr6:142272601-142272602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547897484	chr6:142272613-142272614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373293738	chr6:142272617-142272618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578177571	chr6:142272639-142272640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371340154	chr6:142272658-142272659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180977416	chr6:142272663-142272664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185052704	chr6:142272673-142272674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191371707	chr6:142272694-142272695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540177304	chr6:142272791-142272792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370696954	chr6:142272833-142272834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376931487	chr6:142272845-142272846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183286768	chr6:142272872-142272873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550411285	chr6:142272895-142272896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80326934	chr6:142272927-142272928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373057786	chr6:142272970-142272971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534745319	chr6:142272971-142272972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199546493	chr6:142272982-142272983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201626866	chr6:142272983-142272984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369033147	chr6:142272984-142272985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532875331	chr6:142272991-142272992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570549275	chr6:142273014-142273015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566153085	chr6:142273034-142273035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533748289	chr6:142273035-142273036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555051742	chr6:142273047-142273048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116886655	chr6:142273093-142273094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139723182	chr6:142273115-142273116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144415167	chr6:142273183-142273184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112693601	chr6:142273203-142273204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146627504	chr6:142273215-142273216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139988690	chr6:142273222-142273223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149761102	chr6:142273237-142273238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572362433	chr6:142273243-142273244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543038609	chr6:142273258-142273259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111471915	chr6:142273267-142273268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561124510	chr6:142273303-142273304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573921528	chr6:142273320-142273321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544063670	chr6:142273327-142273328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562347152	chr6:142273332-142273333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532933283	chr6:142273369-142273370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551078267	chr6:142273382-142273383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560228682	chr6:142273502-142273503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527374214	chr6:142273508-142273509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576755049	chr6:142273512-142273513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549008248	chr6:142273538-142273539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539780486	chr6:142273559-142273560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377520803	chr6:142273567-142273568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567142318	chr6:142273568-142273569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142272400-142274600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:142274200-142274600	ZNF genes & repeats	Liver	Liver
3	chr6:142274200-142274800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:142274200-142276200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:142274400-142275400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:142274400-142276000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr6:142274600-142275400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:142274600-142276800	Weak transcription	Liver	Liver
9	chr6:142274800-142284000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:142275200-142275600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr6:142275400-142276200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr6:142275400-142277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:142275400-142278000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:142275800-142276000	Enhancers	Aorta	Aorta
15	chr6:142276000-142276200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:142276000-142276600	Weak transcription	Aorta	Aorta
17	chr6:142276000-142277200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:142276000-142277800	Enhancers	Stomach Smooth Muscle	stomach
19	chr6:142276200-142276400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:142276200-142277200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:142276200-142277800	Enhancers	Ovary	ovary
22	chr6:142276400-142276600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:142276400-142276800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:142276400-142277200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:142276600-142279000	Enhancers	Aorta	Aorta
26	chr6:142276800-142277800	Enhancers	Fetal Heart	heart
27	chr6:142276800-142278600	Enhancers	Liver	Liver
28	chr6:142277000-142277200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:142277000-142277800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:142277200-142277400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:142277200-142277400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:142277200-142277600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:142277200-142277600	Enhancers	Pancreas	Pancrea
34	chr6:142277200-142278000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:142277200-142278000	Enhancers	HSMM	muscle
36	chr6:142277200-142278000	Enhancers	NHDF-Ad	bronchial
37	chr6:142277200-142278200	Enhancers	HSMMtube	muscle
38	chr6:142277200-142278400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:142277200-142278600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr6:142277200-142279400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:142277400-142277800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr6:142277400-142277800	Enhancers	NH-A	brain
43	chr6:142277400-142278000	Enhancers	HUVEC	blood vessel
44	chr6:142277400-142278200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:142277400-142278200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:142277400-142278400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:142277400-142278400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:142277400-142278400	Enhancers	Osteobl	bone
49	chr6:142277600-142277800	Enhancers	NHLF	lung
50	chr6:142277600-142278200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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