Variant report

Variant	esv3393856
Chromosome Location	chr6:1457403-1459501
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-10	chr6:1459088-1459336	NONHSAT106492
2	lnc-GMDS-10	chr6:1459146-1459336	NONHSAT106490

Extended variants
information (count: 117 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549474970	chr6:1457403-1457404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183324478	chr6:1457411-1457412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535455300	chr6:1457419-1457420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555098666	chr6:1457431-1457432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2816256	chr6:1457437-1457438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2816257	chr6:1457446-1457447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373286794	chr6:1457469-1457470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376874468	chr6:1457484-1457485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188259643	chr6:1457487-1457488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543899488	chr6:1457495-1457496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112968851	chr6:1457497-1457498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376402904	chr6:1457502-1457503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146265461	chr6:1457503-1457504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191996629	chr6:1457509-1457510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199533566	chr6:1457529-1457530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530681643	chr6:1457536-1457537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369801340	chr6:1457546-1457547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2816258	chr6:1457555-1457556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563897260	chr6:1457557-1457558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13214449	chr6:1457558-1457559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs59266982	chr6:1457559-1457560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540711382	chr6:1457562-1457563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376963921	chr6:1457563-1457564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58327171	chr6:1457564-1457565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569710514	chr6:1457569-1457570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386696070	chr6:1457599-1457600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548955090	chr6:1457600-1457601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148612413	chr6:1457601-1457602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566341735	chr6:1457616-1457617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112463709	chr6:1457621-1457622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558500374	chr6:1457643-1457644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113386917	chr6:1457660-1457661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537617047	chr6:1457664-1457665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557302837	chr6:1457676-1457677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9405138	chr6:1457687-1457688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187752450	chr6:1457715-1457716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572910384	chr6:1457717-1457718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540891624	chr6:1457720-1457721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139347839	chr6:1457723-1457724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71538909	chr6:1457729-1457730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80314126	chr6:1457730-1457731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71560962	chr6:1457751-1457752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2816261	chr6:1457753-1457754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548810165	chr6:1457785-1457786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192508789	chr6:1457796-1457797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577114372	chr6:1457808-1457809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374416969	chr6:1457855-1457856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571951149	chr6:1457862-1457863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537780756	chr6:1457872-1457873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551148825	chr6:1457895-1457896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1453600-1464200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:1456200-1462600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:1456200-1468000	Weak transcription	Right Atrium	heart
4	chr6:1457800-1461400	Weak transcription	Hela-S3	cervix

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