Variant report

Variant	esv3353021
Chromosome Location	chr6:1421403-1423501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GMDS-13	chr6:1423401-1425665	NONHSAT106482

Extended variants
information (count: 74 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575978211	chr6:1421410-1421411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188984774	chr6:1421421-1421422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10214804	chr6:1421457-1421458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs111444832	chr6:1421469-1421470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571734868	chr6:1421480-1421481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149735083	chr6:1421530-1421531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564360604	chr6:1421558-1421559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577679922	chr6:1421615-1421616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537562186	chr6:1421627-1421628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79324598	chr6:1421656-1421657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145666177	chr6:1421679-1421680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529285622	chr6:1421687-1421688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549149391	chr6:1421734-1421735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192371537	chr6:1421743-1421744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377305172	chr6:1421785-1421786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527587694	chr6:1421846-1421847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184778565	chr6:1421953-1421954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189435758	chr6:1421959-1421960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114362221	chr6:1422037-1422038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77035062	chr6:1422053-1422054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549828439	chr6:1422088-1422089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569687917	chr6:1422108-1422109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535386685	chr6:1422141-1422142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1711962	chr6:1422164-1422165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs199959317	chr6:1422243-1422244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1737776	chr6:1422244-1422245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535000510	chr6:1422246-1422247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558062752	chr6:1422329-1422330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577792929	chr6:1422355-1422356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35327606	chr6:1422372-1422373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs67321907	chr6:1422375-1422376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543650181	chr6:1422489-1422490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571178847	chr6:1422549-1422550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572316329	chr6:1422581-1422582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10214831	chr6:1422595-1422596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557555300	chr6:1422720-1422721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542966958	chr6:1422725-1422726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180811523	chr6:1422729-1422730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543099209	chr6:1422730-1422731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71971572	chr6:1422733-1422734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563439363	chr6:1422741-1422742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114986748	chr6:1422761-1422762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377685643	chr6:1422768-1422769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144003879	chr6:1422909-1422910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186254880	chr6:1422948-1422949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35586988	chr6:1422989-1422990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111645562	chr6:1423059-1423060	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs569694654	chr6:1423064-1423065	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs528996955	chr6:1423080-1423081	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs375744960	chr6:1423118-1423119	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1418000-1423200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:1419200-1423800	Weak transcription	NHLF	lung
3	chr6:1419400-1424400	Weak transcription	Fetal Stomach	stomach
4	chr6:1419600-1423800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:1419600-1424400	Weak transcription	Fetal Lung	lung
6	chr6:1423000-1423200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr6:1423200-1424000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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