Variant report

Variant	nsv436520
Chromosome Location	chr6:150052496-150057554
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	chr6:150052852..150055939-chr6:150067242..150070828,4	K562	blood:
2	chr6:150037459..150041467-chr6:150046998..150054266,14	K562	blood:
3	chr6:150045566..150048616-chr6:150051147..150053012,3	K562	blood:
4	chr6:150056189..150058186-chr6:150088562..150090065,2	K562	blood:
5	chr6:150045603..150048422-chr6:150052739..150054245,2	MCF-7	breast:
6	chr6:150049432..150051303-chr6:150051531..150054391,2	K562	blood:
7	chr6:150055968..150058286-chr6:150092691..150095282,2	K562	blood:
8	chr6:150050583..150052952-chr6:150059136..150060763,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000120253	chromatin interactions
ENSG00000131023	chromatin interactions
ENSG00000120265	chromatin interactions

Extended variants
information (count: 206 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533232408	chr6:150052524-150052525	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547174835	chr6:150052554-150052555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149918739	chr6:150052606-150052607	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536186235	chr6:150052623-150052624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369440624	chr6:150052627-150052628	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563489144	chr6:150052631-150052632	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546025794	chr6:150052646-150052647	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549684619	chr6:150052662-150052663	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568897904	chr6:150052677-150052678	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576021152	chr6:150052680-150052681	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368188588	chr6:150052698-150052699	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537861704	chr6:150052700-150052701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557751077	chr6:150052705-150052706	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs199516589	chr6:150052723-150052724	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376737311	chr6:150052724-150052725	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201366481	chr6:150052741-150052742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61756083	chr6:150052765-150052766	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150329472	chr6:150052778-150052779	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138246789	chr6:150052782-150052783	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374954615	chr6:150052828-150052829	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369977092	chr6:150052844-150052845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542542971	chr6:150052889-150052890	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs367863362	chr6:150052893-150052894	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs562445150	chr6:150052898-150052899	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs562466369	chr6:150052908-150052909	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs575900343	chr6:150052947-150052948	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs144958598	chr6:150052985-150052986	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs564277613	chr6:150053055-150053056	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs531657872	chr6:150053100-150053101	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs533515711	chr6:150053104-150053105	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs372982697	chr6:150053145-150053146	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs540362602	chr6:150053154-150053155	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs186269387	chr6:150053179-150053180	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs529486836	chr6:150053250-150053251	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs549568353	chr6:150053253-150053254	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs569583779	chr6:150053272-150053273	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs531998201	chr6:150053273-150053274	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs377615621	chr6:150053290-150053291	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs149049966	chr6:150053291-150053292	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs571152674	chr6:150053300-150053301	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs9397507	chr6:150053315-150053316	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs11430528	chr6:150053319-150053320	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs533927470	chr6:150053369-150053370	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs553569704	chr6:150053401-150053402	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs144236528	chr6:150053411-150053412	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs536058826	chr6:150053438-150053439	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs530069876	chr6:150053497-150053498	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs575935140	chr6:150053498-150053499	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs147765328	chr6:150053511-150053512	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs75253903	chr6:150053534-150053535	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150039800-150066800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:150039800-150067000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:150040000-150056400	Weak transcription	Psoas Muscle	Psoas
4	chr6:150040000-150057400	Weak transcription	A549	lung
5	chr6:150040000-150066600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:150040200-150056200	Weak transcription	Colonic Mucosa	Colon
7	chr6:150040400-150066200	Weak transcription	Fetal Brain Male	brain
8	chr6:150043600-150065600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:150043600-150066000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:150043800-150053800	Strong transcription	Dnd41	blood
11	chr6:150043800-150064000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:150044000-150065200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:150044000-150065400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:150044200-150058800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr6:150044200-150065000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:150044200-150065200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:150044600-150059200	Strong transcription	Fetal Muscle Leg	muscle
18	chr6:150044800-150065000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:150045400-150065600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:150045800-150065400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:150046000-150053200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:150046000-150064200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:150046200-150064600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr6:150046200-150064800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:150046600-150065000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:150046800-150064600	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:150047000-150053000	Strong transcription	HSMM	muscle
28	chr6:150047000-150053200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:150047200-150053400	Strong transcription	HepG2	liver
30	chr6:150047400-150053200	Strong transcription	GM12878-XiMat	blood
31	chr6:150047400-150054800	Strong transcription	Liver	Liver
32	chr6:150047600-150053000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:150047600-150053200	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr6:150047600-150053200	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr6:150047600-150053400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr6:150047600-150058600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr6:150047800-150053000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr6:150047800-150053000	Strong transcription	HUVEC	blood vessel
39	chr6:150047800-150053200	Strong transcription	Left Ventricle	heart
40	chr6:150047800-150055000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:150047800-150055000	Strong transcription	NH-A	brain
42	chr6:150047800-150058400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:150047800-150058800	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr6:150048400-150053200	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:150048400-150056400	Weak transcription	NHDF-Ad	bronchial
46	chr6:150048400-150066600	Weak transcription	Fetal Heart	heart
47	chr6:150048800-150059200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:150048800-150064400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:150049000-150065600	Strong transcription	Fetal Stomach	stomach
50	chr6:150049200-150053000	Strong transcription	Brain Hippocampus Middle	brain

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