Variant report

Variant	esv2761006
Chromosome Location	chr6:150624675-150629819
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150624607..150626485-chr6:150639529..150642176,2	K562	blood:
2	chr6:150620693..150625949-chr6:150627495..150632317,8	K562	blood:
3	chr6:150594862..150596896-chr6:150629202..150631645,2	K562	blood:
4	chr6:150620693..150625949-chr6:150627495..150632317,8	K562	blood:
5	chr6:150607126..150608753-chr6:150627355..150629999,2	K562	blood:
6	chr6:150627066..150629828-chr6:150636528..150638058,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R14C-1	chr6:150626922-150627165	NONHSAT115535

No data

Extended variants
information (count: 161 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9480186	chr6:150624675-150624676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569530567	chr6:150624676-150624677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60926607	chr6:150624712-150624713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541044860	chr6:150624722-150624723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552050363	chr6:150624730-150624731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182435177	chr6:150624814-150624815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533685888	chr6:150624837-150624838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139527534	chr6:150624838-150624839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561198045	chr6:150624843-150624844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536212545	chr6:150624866-150624867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556052041	chr6:150624923-150624924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117771161	chr6:150624947-150624948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59245770	chr6:150624954-150624955	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558362783	chr6:150624965-150624966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145144064	chr6:150624974-150624975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188303003	chr6:150624975-150624976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560598305	chr6:150624980-150624981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370356447	chr6:150624996-150624997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6911003	chr6:150625032-150625033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs542996538	chr6:150625262-150625263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192796473	chr6:150625307-150625308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532084432	chr6:150625315-150625316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532781173	chr6:150625368-150625369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184848628	chr6:150625380-150625381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61402905	chr6:150625399-150625400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62441183	chr6:150625467-150625468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9371388	chr6:150625469-150625470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374530800	chr6:150625492-150625493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548167784	chr6:150625558-150625559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6904151	chr6:150625572-150625573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs368652554	chr6:150625705-150625706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189066390	chr6:150625750-150625751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538572100	chr6:150625837-150625838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558400490	chr6:150625848-150625849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191995350	chr6:150625862-150625863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534775165	chr6:150625915-150625916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553976736	chr6:150625917-150625918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115010496	chr6:150625928-150625929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184770015	chr6:150625929-150625930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116547237	chr6:150625938-150625939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576484296	chr6:150625958-150625959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562534968	chr6:150626009-150626010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189185083	chr6:150626117-150626118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545740088	chr6:150626145-150626146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144977089	chr6:150626155-150626156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371546518	chr6:150626183-150626184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148664036	chr6:150626207-150626208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9480192	chr6:150626291-150626292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs73614071	chr6:150626337-150626338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529769709	chr6:150626399-150626400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150619600-150641200	Weak transcription	Right Atrium	heart
2	chr6:150621600-150635400	Weak transcription	Fetal Heart	heart
3	chr6:150622800-150624800	Enhancers	Fetal Intestine Large	intestine
4	chr6:150622800-150624800	Enhancers	Fetal Intestine Small	intestine
5	chr6:150624200-150628600	Weak transcription	K562	blood
6	chr6:150624400-150625000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:150624400-150634400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:150628600-150629200	Enhancers	K562	blood
9	chr6:150628800-150629000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr6:150628800-150629000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr6:150628800-150636000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr6:150629000-150629400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:150629200-150633600	Weak transcription	K562	blood

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