Variant report

Variant	esv3324488
Chromosome Location	chr6:144630309-144633007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208662011..208662530-chr6:144632528..144633353,2	MCF-7	breast:
2	chr6:144622631..144624157-chr6:144629354..144630857,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SF3B5-1	chr6:144632835-144633229	ENSG00000225311.1

Extended variants
information (count: 100 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191351670	chr6:144630322-144630323	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75863512	chr6:144630328-144630329	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184543243	chr6:144630362-144630363	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73586982	chr6:144630375-144630376	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573306419	chr6:144630390-144630391	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540706566	chr6:144630456-144630457	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149509421	chr6:144630510-144630511	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376702195	chr6:144630532-144630533	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550459204	chr6:144630535-144630536	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190607715	chr6:144630543-144630544	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533024788	chr6:144630546-144630547	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2328569	chr6:144630614-144630615	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs545860649	chr6:144630654-144630655	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6912024	chr6:144630706-144630707	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549053668	chr6:144630720-144630721	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144173204	chr6:144630733-144630734	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537948293	chr6:144630734-144630735	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148686420	chr6:144630755-144630756	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6912336	chr6:144630787-144630788	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540119879	chr6:144630802-144630803	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558514011	chr6:144630852-144630853	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370158326	chr6:144630878-144630879	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552733280	chr6:144630896-144630897	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370455437	chr6:144630905-144630906	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181920052	chr6:144630920-144630921	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185766532	chr6:144630935-144630936	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562119434	chr6:144630976-144630977	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73780517	chr6:144630990-144630991	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539814241	chr6:144630998-144630999	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527929708	chr6:144631002-144631003	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147357814	chr6:144631011-144631012	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550114191	chr6:144631012-144631013	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551260524	chr6:144631017-144631018	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569923123	chr6:144631064-144631065	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527590541	chr6:144631069-144631070	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572879777	chr6:144631120-144631121	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548653646	chr6:144631125-144631126	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139403562	chr6:144631176-144631177	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547974487	chr6:144631199-144631200	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537508190	chr6:144631239-144631240	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549881315	chr6:144631295-144631296	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571018473	chr6:144631296-144631297	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569449863	chr6:144631359-144631360	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535201725	chr6:144631374-144631375	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116909972	chr6:144631382-144631383	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188792812	chr6:144631411-144631412	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573534111	chr6:144631412-144631413	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147119405	chr6:144631427-144631428	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75695540	chr6:144631469-144631470	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534532785	chr6:144631473-144631474	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	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
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144608600-144631400	Weak transcription	Colonic Mucosa	Colon
2	chr6:144609200-144641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:144616400-144648000	Weak transcription	NHEK	skin
4	chr6:144617200-144636400	Weak transcription	A549	lung
5	chr6:144617400-144632800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:144619200-144634600	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:144619800-144631800	Weak transcription	Fetal Heart	heart
8	chr6:144619800-144634600	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:144622400-144637000	Genic enhancers	HepG2	liver
10	chr6:144624200-144632000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:144624200-144641400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:144624200-144641600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:144624400-144648000	Weak transcription	HMEC	breast
14	chr6:144625800-144632600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:144627000-144634600	Weak transcription	Small Intestine	intestine
16	chr6:144627400-144634600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:144627400-144641800	Weak transcription	Thymus	Thymus
18	chr6:144627600-144631600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:144627600-144631800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:144627600-144631800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:144627600-144631800	Weak transcription	Pancreas	Pancrea
22	chr6:144627600-144631800	Weak transcription	Psoas Muscle	Psoas
23	chr6:144627600-144634200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:144627600-144634200	Weak transcription	Right Atrium	heart
25	chr6:144627600-144634600	Weak transcription	Aorta	Aorta
26	chr6:144627600-144634600	Weak transcription	Esophagus	oesophagus
27	chr6:144627600-144634600	Weak transcription	Spleen	Spleen
28	chr6:144627600-144636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:144627600-144643400	Weak transcription	NH-A	brain
30	chr6:144627600-144645800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:144627800-144631400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:144627800-144631800	Weak transcription	GM12878-XiMat	blood
33	chr6:144627800-144632200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:144627800-144634600	Weak transcription	Fetal Thymus	thymus
35	chr6:144628200-144631400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr6:144628400-144631600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr6:144628600-144631000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr6:144628600-144631800	Strong transcription	Fetal Muscle Leg	muscle
39	chr6:144628800-144631000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:144629000-144630400	Strong transcription	Gastric	stomach
41	chr6:144629000-144630600	Strong transcription	Ovary	ovary
42	chr6:144629000-144631200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:144629000-144631200	Strong transcription	Fetal Stomach	stomach
44	chr6:144629000-144632800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:144629000-144633000	Strong transcription	HSMM	muscle
46	chr6:144629200-144630600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:144629200-144631000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:144629200-144631200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:144629200-144631200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr6:144629200-144631400	Strong transcription	Fetal Kidney	kidney

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