Variant report

Variant	esv1846046
Chromosome Location	chr6:147258908-147271295
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:1)
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	chr6:147263063..147265442-chr6:147274553..147276073,2	K562	blood:
2	chr6:147270092..147272159-chr6:147273623..147276207,2	K562	blood:
3	chr6:147255283..147257003-chr6:147267757..147269418,2	MCF-7	breast:
4	chr6:147195935..147198444-chr6:147269151..147270925,2	K562	blood:
5	chr6:147255677..147257632-chr6:147259181..147261185,2	K562	blood:
6	chr6:147238517..147240324-chr6:147265571..147267356,2	K562	blood:
7	chr6:147205396..147207427-chr6:147257781..147260331,2	K562	blood:
8	chr6:147232441..147234429-chr6:147269926..147271977,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHPRH-7	chr6:147269664-147270876	ENSG00000272397.1

No data

Variant related genes	Relation type
ENSG00000233452	chromatin interactions

Extended variants
information (count: 296 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:296 , 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	rs537068838	chr6:147258931-147258932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538736971	chr6:147258966-147258967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189764531	chr6:147259009-147259010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572086376	chr6:147259059-147259060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17076442	chr6:147259099-147259100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs17076444	chr6:147259122-147259123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574679450	chr6:147259123-147259124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181412603	chr6:147259128-147259129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563504332	chr6:147259177-147259178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532451322	chr6:147259247-147259248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546303806	chr6:147259256-147259257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559291787	chr6:147259371-147259372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143166716	chr6:147259388-147259389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548453595	chr6:147259411-147259412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568462981	chr6:147259457-147259458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185293172	chr6:147259475-147259476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370625101	chr6:147259516-147259517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138764953	chr6:147259517-147259518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9403834	chr6:147259523-147259524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs73582269	chr6:147259617-147259618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs60582504	chr6:147259630-147259631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565656839	chr6:147259646-147259647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534650433	chr6:147259686-147259687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11155493	chr6:147259713-147259714	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs574742105	chr6:147259728-147259729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543701352	chr6:147259732-147259733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539121292	chr6:147259758-147259759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77333078	chr6:147259846-147259847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11155494	chr6:147259868-147259869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188228536	chr6:147260162-147260163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112414642	chr6:147260188-147260189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180714067	chr6:147260192-147260193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528465821	chr6:147260245-147260246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541863149	chr6:147260268-147260269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561757368	chr6:147260287-147260288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186397710	chr6:147260298-147260299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62434856	chr6:147260314-147260315	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs371058097	chr6:147260381-147260382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367960394	chr6:147260392-147260393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552297043	chr6:147260613-147260614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs5983191	chr6:147260623-147260624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111956935	chr6:147260633-147260634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs36132845	chr6:147260644-147260645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565818213	chr6:147260656-147260657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs36157139	chr6:147260665-147260666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs192191828	chr6:147260676-147260677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35658449	chr6:147260699-147260700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79675606	chr6:147260706-147260707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3958885	chr6:147260724-147260725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs75468697	chr6:147260728-147260729	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
Zellweger syndrome	21572526	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
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
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
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147257400-147259200	Enhancers	K562	blood
2	chr6:147259200-147260400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:147260600-147261200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr6:147264600-147264800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr6:147264600-147265200	Enhancers	Spleen	Spleen
6	chr6:147265600-147266800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:147265600-147276600	Weak transcription	Pancreas	Pancrea
8	chr6:147266200-147268000	Enhancers	HepG2	liver
9	chr6:147266400-147268800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr6:147266800-147268000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:147267000-147267400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:147267000-147267400	Enhancers	Small Intestine	intestine
13	chr6:147267400-147271600	Weak transcription	Small Intestine	intestine
14	chr6:147268000-147269600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:147268000-147271000	Weak transcription	HepG2	liver
16	chr6:147268600-147268800	Enhancers	K562	blood
17	chr6:147268800-147277800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:147269200-147270800	Weak transcription	K562	blood
19	chr6:147270400-147271200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:147270400-147271600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:147270400-147272600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:147270800-147271600	Enhancers	Primary T cells from cord blood	blood
23	chr6:147270800-147272200	Enhancers	K562	blood
24	chr6:147271000-147271600	Enhancers	HepG2	liver
25	chr6:147271000-147272400	Enhancers	Fetal Intestine Small	intestine
26	chr6:147271000-147272600	Enhancers	Primary hematopoietic stem cells	blood
27	chr6:147271200-147271400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr6:147271200-147271600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr6:147271200-147271800	Enhancers	Fetal Thymus	thymus
30	chr6:147271200-147272000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:147271200-147272000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:147271200-147272000	Enhancers	HUVEC	blood vessel
33	chr6:147271200-147272400	Enhancers	Fetal Intestine Large	intestine

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