Variant report

Variant	nsv519529
Chromosome Location	chr6:150612012-150618750
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:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150613086..150616937-chr6:150621463..150623679,3	MCF-7	breast:
2	chr6:150593319..150595092-chr6:150615622..150618448,2	K562	blood:
3	chr6:150574454..150576018-chr6:150610517..150613502,2	K562	blood:
4	chr6:150609494..150611063-chr6:150611238..150612780,2	K562	blood:
5	chr6:150614780..150617065-chr6:150622253..150624530,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R14C-1	chr6:150612026-150612202	XLOC_005502
2	lnc-PPP1R14C-1	chr6:150615916-150616896	XLOC_005502
3	lnc-PPP1R14C-1	chr6:150615916-150616004	XLOC_005502
4	lnc-PPP1R14C-1	chr6:150615916-150616003	NONHSAT115535

No data

Variant related genes	Relation type
CDC27	miRNA target sites

Extended variants
information (count: 286 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4409190	chr6:150612012-150612013	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185919613	chr6:150612019-150612020	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs549328001	chr6:150612047-150612048	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs114402132	chr6:150612106-150612107	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs537662967	chr6:150612168-150612169	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs371556262	chr6:150612172-150612173	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs551513647	chr6:150612247-150612248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570860132	chr6:150612253-150612254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539971259	chr6:150612273-150612274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533218721	chr6:150612325-150612326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191575939	chr6:150612343-150612344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533850298	chr6:150612359-150612360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566555156	chr6:150612419-150612420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535428480	chr6:150612422-150612423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148019894	chr6:150612429-150612430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575853481	chr6:150612444-150612445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544480086	chr6:150612464-150612465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539818156	chr6:150612504-150612505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368456068	chr6:150612507-150612508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558374547	chr6:150612524-150612525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578102139	chr6:150612526-150612527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141729697	chr6:150612560-150612561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554171403	chr6:150612570-150612571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528920666	chr6:150612590-150612591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542612692	chr6:150612631-150612632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7739006	chr6:150612635-150612636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547730701	chr6:150612659-150612660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74649925	chr6:150612676-150612677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573336620	chr6:150612688-150612689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531588524	chr6:150612692-150612693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62441181	chr6:150612697-150612698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184219477	chr6:150612722-150612723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187134837	chr6:150612741-150612742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527479867	chr6:150612787-150612788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7739500	chr6:150612891-150612892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575773431	chr6:150612894-150612895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566591480	chr6:150612909-150612910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138904990	chr6:150612991-150612992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555292952	chr6:150613035-150613036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78439393	chr6:150613046-150613047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9480158	chr6:150613099-150613100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558149158	chr6:150613120-150613121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578147036	chr6:150613127-150613128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540803876	chr6:150613142-150613143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191144242	chr6:150613154-150613155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182111620	chr6:150613155-150613156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542649032	chr6:150613162-150613163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11755841	chr6:150613175-150613176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187073951	chr6:150613237-150613238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545322183	chr6:150613260-150613261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150604200-150617000	Weak transcription	Pancreas	Pancrea
2	chr6:150610200-150612200	Enhancers	K562	blood
3	chr6:150610800-150612200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:150610800-150612200	Enhancers	HMEC	breast
5	chr6:150610800-150612400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:150610800-150612400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:150611000-150612400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:150611200-150612400	Enhancers	Osteobl	bone
9	chr6:150611400-150612200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:150611400-150612200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr6:150611400-150612200	Flanking Active TSS	NHEK	skin
12	chr6:150611600-150614200	Weak transcription	NHDF-Ad	bronchial
13	chr6:150611600-150615400	Weak transcription	Esophagus	oesophagus
14	chr6:150611800-150613200	Weak transcription	Placenta	Placenta
15	chr6:150611800-150614200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:150612000-150612400	Enhancers	NH-A	brain
17	chr6:150612000-150613400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:150612000-150614600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:150612200-150612400	Enhancers	NHEK	skin
20	chr6:150612200-150613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:150612200-150613800	Weak transcription	K562	blood
22	chr6:150612200-150614000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:150612200-150614000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:150612200-150614200	Weak transcription	HMEC	breast
25	chr6:150612400-150613400	Weak transcription	NHEK	skin
26	chr6:150612400-150613600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:150612400-150613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:150612400-150613800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:150612400-150614200	Weak transcription	NH-A	brain
30	chr6:150612400-150614200	Weak transcription	Osteobl	bone
31	chr6:150613200-150614400	Enhancers	Placenta	Placenta
32	chr6:150613400-150614200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr6:150613400-150616200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:150613400-150616400	Enhancers	NHEK	skin
35	chr6:150613600-150615800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:150613600-150615800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:150613800-150615600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:150613800-150615800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:150613800-150616400	Enhancers	K562	blood
40	chr6:150614000-150615400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:150614000-150615600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:150614200-150614600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:150614200-150615400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:150614200-150615600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr6:150614200-150615600	Enhancers	NHDF-Ad	bronchial
46	chr6:150614200-150615600	Enhancers	Osteobl	bone
47	chr6:150614200-150616200	Enhancers	NH-A	brain
48	chr6:150614200-150616400	Enhancers	HMEC	breast
49	chr6:150614400-150614600	Enhancers	Hela-S3	cervix
50	chr6:150614400-150614800	Weak transcription	Placenta	Placenta

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