Variant report

Variant	nsv1022455
Chromosome Location	chr6:150727247-150755933
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150723506..150725309-chr6:150728737..150730322,2	MCF-7	breast:
2	chr6:150735006..150737678-chr6:151094052..151096200,2	K562	blood:
3	chr6:150725228..150728366-chr6:150731535..150733828,3	K562	blood:
4	chr6:150720777..150722938-chr6:150732800..150734541,2	MCF-7	breast:
5	chr6:150725228..150728366-chr6:150731535..150733828,3	K562	blood:
6	chr6:150744561..150747232-chr6:150752463..150755073,2	K562	blood:
7	chr6:150739275..150740853-chr6:151135613..151137022,11	K562	blood:
8	chr6:150753172..150755585-chr6:150755999..150757567,2	K562	blood:
9	chr6:150727670..150730575-chr6:150733392..150736317,2	K562	blood:
10	chr6:150737527..150738078-chr6:151135893..151136531,2	K562	blood:
11	chr6:150739018..150739537-chr6:151138886..151139620,2	MCF-7	breast:
12	chr6:150739007..150740606-chr6:151135993..151137184,5	MCF-7	breast:
13	chr6:150739625..150740200-chr6:151007043..151007665,2	MCF-7	breast:
14	chr6:150672100..150674423-chr6:150737681..150739812,2	K562	blood:
15	chr6:150739151..150742146-chr6:150742181..150746418,5	K562	blood:
16	chr6:150738919..150740367-chr6:151006693..151007780,5	MCF-7	breast:
17	chr6:150722584..150723485-chr6:150739885..150740902,3	K562	blood:
18	chr6:150739171..150740801-chr6:150920989..150922541,9	MCF-7	breast:
19	chr6:150739151..150742146-chr6:150742181..150746418,5	K562	blood:
20	chr6:150739022..150740801-chr6:151062707..151063998,9	MCF-7	breast:
21	chr6:150739101..150740605-chr6:151135391..151136891,7	MCF-7	breast:
22	chr6:150731412..150734298-chr6:150879211..150881939,2	K562	blood:
23	chr6:150727670..150730575-chr6:150733392..150736317,2	K562	blood:
24	chr6:150738306..150738871-chr6:151135977..151136495,2	MCF-7	breast:
25	chr6:150744561..150747232-chr6:150752463..150755073,2	K562	blood:
26	chr17:41400272..41402043-chr6:150732136..150734095,2	K562	blood:
27	chr6:150745493..150747082-chr6:150771291..150772922,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000120278	chromatin interactions
ENSG00000232891	chromatin interactions

Extended variants
information (count: 1119 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1119 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60767497	chr6:150727287-150727288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560880435	chr6:150727301-150727302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181502750	chr6:150727346-150727347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543608407	chr6:150727374-150727375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563299878	chr6:150727376-150727377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531850471	chr6:150727402-150727403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144301330	chr6:150727415-150727416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115036419	chr6:150727420-150727421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80249076	chr6:150727424-150727425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs660484	chr6:150727459-150727460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs2211104	chr6:150727470-150727471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560855139	chr6:150727488-150727489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529647982	chr6:150727498-150727499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs649744	chr6:150727505-150727506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376614657	chr6:150727545-150727546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556725911	chr6:150727546-150727547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs649677	chr6:150727552-150727553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552676268	chr6:150727567-150727568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538365624	chr6:150727574-150727575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558256572	chr6:150727579-150727580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376751486	chr6:150727662-150727663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147388562	chr6:150727679-150727680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34253421	chr6:150727682-150727683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540664051	chr6:150727699-150727700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34541264	chr6:150727719-150727720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145261986	chr6:150727726-150727727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186473993	chr6:150727755-150727756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543321120	chr6:150727781-150727782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs648460	chr6:150727790-150727791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567640608	chr6:150727794-150727795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532234747	chr6:150727811-150727812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536196947	chr6:150727817-150727818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190562414	chr6:150727818-150727819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114839284	chr6:150727856-150727857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527784216	chr6:150727864-150727865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs603815	chr6:150727933-150727934	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182345465	chr6:150727934-150727935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530438302	chr6:150727958-150727959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550177980	chr6:150728029-150728030	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs73619539	chr6:150728034-150728035	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs538878516	chr6:150728104-150728105	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs1416484	chr6:150728115-150728116	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs28575556	chr6:150728155-150728156	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs386707045	chr6:150728168-150728169	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs151003389	chr6:150728177-150728178	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs199727251	chr6:150728181-150728182	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs646636	chr6:150728187-150728188	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs683826	chr6:150728195-150728196	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375944851	chr6:150728238-150728239	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190936905	chr6:150728279-150728280	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150721800-150729800	Weak transcription	Liver	Liver
2	chr6:150724800-150728600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:150724800-150730000	Weak transcription	Left Ventricle	heart
4	chr6:150724800-150731000	Weak transcription	Lung	lung
5	chr6:150725000-150730000	Weak transcription	HMEC	breast
6	chr6:150725400-150728200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:150725400-150728400	Weak transcription	Fetal Lung	lung
8	chr6:150725400-150730200	Weak transcription	Fetal Heart	heart
9	chr6:150725400-150730400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:150725400-150731000	Weak transcription	Right Ventricle	heart
11	chr6:150725400-150733000	Weak transcription	Stomach Mucosa	stomach
12	chr6:150725600-150727600	Weak transcription	Osteobl	bone
13	chr6:150725600-150730200	Weak transcription	Fetal Kidney	kidney
14	chr6:150725600-150730400	Weak transcription	Hela-S3	cervix
15	chr6:150725600-150730600	Weak transcription	NH-A	brain
16	chr6:150725600-150731200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:150727600-150734000	Enhancers	Osteobl	bone
18	chr6:150728000-150728200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr6:150728000-150728200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
20	chr6:150728000-150728800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:150728200-150728400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:150728200-150728400	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr6:150728200-150728400	Enhancers	Placenta	Placenta
24	chr6:150728200-150728400	Enhancers	Spleen	Spleen
25	chr6:150728200-150728600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr6:150728200-150728600	Enhancers	Adipose Nuclei	Adipose
27	chr6:150728200-150729200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:150728400-150730400	Weak transcription	Spleen	Spleen
29	chr6:150728400-150732400	Enhancers	Fetal Lung	lung
30	chr6:150728600-150730400	Weak transcription	Adipose Nuclei	Adipose
31	chr6:150728800-150732000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:150729000-150729200	Enhancers	Fetal Muscle Trunk	muscle
33	chr6:150729200-150730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:150729400-150730000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:150729600-150731200	Enhancers	Esophagus	oesophagus
36	chr6:150729800-150730000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:150729800-150731000	Enhancers	NHEK	skin
38	chr6:150729800-150732200	Enhancers	Liver	Liver
39	chr6:150730000-150730200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr6:150730000-150730200	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr6:150730000-150730600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr6:150730000-150730800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:150730000-150731200	Enhancers	Gastric	stomach
44	chr6:150730000-150731400	Enhancers	Duodenum Mucosa	Duodenum
45	chr6:150730000-150731400	Enhancers	Left Ventricle	heart
46	chr6:150730000-150731400	Enhancers	Pancreas	Pancrea
47	chr6:150730000-150731400	Enhancers	HMEC	breast
48	chr6:150730000-150732200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:150730200-150731400	Enhancers	Fetal Muscle Trunk	muscle
50	chr6:150730200-150731400	Enhancers	Fetal Muscle Leg	muscle

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