Variant report

Variant	esv3399349
Chromosome Location	chr6:150302959-150307557
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	chr6:150284633..150286878-chr6:150301726..150303753,2	K562	blood:
2	chr6:150299443..150301992-chr6:150305424..150307057,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ULBP1-1	chr6:150302737-150304344	l_3296_chr6:150302250-150304344_testes

Variant related genes	Relation type
ENSG00000111981	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs9478331	chr6:150303049-150303050	Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117800798	chr6:150303054-150303055	Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs563618623	chr6:150303133-150303134	Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs62442281	chr6:150303141-150303142	Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549632335	chr6:150303188-150303189	Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs548671692	chr6:150303205-150303206	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs4869782	chr6:150303241-150303242	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538806352	chr6:150303252-150303253	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs566116073	chr6:150303264-150303265	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs12196650	chr6:150303348-150303349	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572103827	chr6:150303378-150303379	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs78568231	chr6:150303386-150303387	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs534657229	chr6:150303389-150303390	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs4870174	chr6:150303401-150303402	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537258284	chr6:150303409-150303410	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs150140498	chr6:150303424-150303425	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs9479321	chr6:150303473-150303474	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539553996	chr6:150303499-150303500	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs145549356	chr6:150303517-150303518	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs9479322	chr6:150303566-150303567	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9479323	chr6:150303576-150303577	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs73614691	chr6:150303599-150303600	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs181128373	chr6:150303646-150303647	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs544299230	chr6:150303688-150303689	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs544071207	chr6:150303697-150303698	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs7773464	chr6:150303710-150303711	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	mRNA abundance
27	rs60373379	chr6:150303765-150303766	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs546297624	chr6:150303779-150303780	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs148853999	chr6:150303789-150303790	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs9479324	chr6:150303794-150303795	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185621365	chr6:150303834-150303835	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
32	rs562360256	chr6:150303849-150303850	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
33	rs531284655	chr6:150303867-150303868	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
34	rs67871424	chr6:150303868-150303869	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
35	rs528568850	chr6:150303893-150303894	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
36	rs6557232	chr6:150303911-150303912	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
37	rs539131185	chr6:150303944-150303945	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
38	rs561763717	chr6:150303948-150303949	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
39	rs111564439	chr6:150303954-150303955	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
40	rs10457078	chr6:150303972-150303973	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
41	rs370636984	chr6:150303977-150303978	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
42	rs554988285	chr6:150304005-150304006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs143488663	chr6:150304063-150304064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs115135007	chr6:150304107-150304108	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs557637158	chr6:150304115-150304116	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs10457856	chr6:150304116-150304117	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs190497786	chr6:150304178-150304179	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs538503153	chr6:150304241-150304242	Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs182730271	chr6:150304242-150304243	Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs187015261	chr6:150304280-150304281	Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150302400-150303000	Active TSS	Hela-S3	cervix
2	chr6:150302800-150303000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr6:150302800-150303000	Bivalent Enhancer	Fetal Thymus	thymus
4	chr6:150303000-150303200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
5	chr6:150303000-150303200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
6	chr6:150303000-150303200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:150303800-150304000	Bivalent Enhancer	Esophagus	oesophagus
8	chr6:150304200-150304400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:150304200-150304600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:150304400-150304600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr6:150304600-150304800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr6:150305600-150306200	Bivalent Enhancer	Thymus	Thymus
13	chr6:150306400-150306600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr6:150306600-150306800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:150306600-150306800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:150306600-150306800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:150306600-150307000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:150306800-150307000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:150306800-150307000	Bivalent Enhancer	Colonic Mucosa	Colon
20	chr6:150307000-150307200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:150307000-150307200	Bivalent Enhancer	HSMM	muscle

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