Variant report

Variant	esv3474418
Chromosome Location	chr6:1476253-1480951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:1476822..1479650-chr6:1479865..1482359,2	K562	blood:
2	chr6:1479047..1481857-chr6:1490107..1492242,2	K562	blood:
3	chr6:1470658..1472658-chr6:1477304..1479311,2	K562	blood:
4	chr6:1476822..1479650-chr6:1479865..1482359,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GMDS-9	chr6:1474837-1477102	NONHSAT106495

Extended variants
information (count: 294 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:294 , 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	rs530959558	chr6:1476256-1476257	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs79594258	chr6:1476258-1476259	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs56356118	chr6:1476259-1476260	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs55772189	chr6:1476261-1476262	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs375525012	chr6:1476262-1476263	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs72035036	chr6:1476273-1476274	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs555453025	chr6:1476282-1476283	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs541237621	chr6:1476284-1476285	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs188384395	chr6:1476298-1476299	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs78089042	chr6:1476309-1476310	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs535367637	chr6:1476324-1476325	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs77883546	chr6:1476325-1476326	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs192875829	chr6:1476368-1476369	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs373215409	chr6:1476382-1476383	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs3069231	chr6:1476393-1476394	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs397838200	chr6:1476399-1476400	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs74385879	chr6:1476400-1476401	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs557985684	chr6:1476428-1476429	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs577806677	chr6:1476451-1476452	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs537181368	chr6:1476468-1476469	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs569149052	chr6:1476473-1476474	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs537944452	chr6:1476485-1476486	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs111239456	chr6:1476537-1476538	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs556979453	chr6:1476549-1476550	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs112020192	chr6:1476597-1476598	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs555048550	chr6:1476692-1476693	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs9501729	chr6:1476709-1476710	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187755496	chr6:1476725-1476726	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs138965793	chr6:1476742-1476743	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs192495162	chr6:1476769-1476770	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs375754803	chr6:1476774-1476775	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs183476091	chr6:1476852-1476853	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs530897205	chr6:1476869-1476870	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs550692725	chr6:1476934-1476935	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs189227542	chr6:1476945-1476946	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs369646647	chr6:1476963-1476964	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs530177302	chr6:1476966-1476967	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs534212948	chr6:1476993-1476994	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs530072182	chr6:1476994-1476995	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs552962013	chr6:1476995-1476996	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs546689588	chr6:1476999-1477000	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs373981271	chr6:1477009-1477010	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs566698858	chr6:1477025-1477026	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs565918011	chr6:1477062-1477063	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs528420897	chr6:1477089-1477090	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs551589323	chr6:1477090-1477091	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs571497979	chr6:1477114-1477115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376856413	chr6:1477131-1477132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71550055	chr6:1477140-1477141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs62388561	chr6:1477154-1477155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Glioma	20126413	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1473400-1481400	Enhancers	Hela-S3	cervix
2	chr6:1473800-1476600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:1473800-1478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:1473800-1481600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:1473800-1481800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:1474000-1476800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:1474000-1477200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:1474000-1481400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:1474400-1477400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:1474400-1477600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:1475400-1477000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:1475600-1477000	Weak transcription	A549	lung
13	chr6:1476000-1476400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:1476400-1476600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:1476600-1480600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:1476600-1483400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:1476800-1477200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:1476800-1487000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:1477000-1477400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:1477000-1477400	Enhancers	A549	lung
21	chr6:1477000-1477400	Enhancers	Osteobl	bone
22	chr6:1477000-1478800	Enhancers	NHDF-Ad	bronchial
23	chr6:1477200-1477400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:1477200-1479000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:1477200-1480400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:1477200-1483200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:1477200-1483400	Enhancers	NHLF	lung
28	chr6:1477400-1477800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:1477400-1477800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:1477400-1477800	Enhancers	NHEK	skin
31	chr6:1477400-1478000	Flanking Active TSS	Osteobl	bone
32	chr6:1477400-1478200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:1477400-1478200	Flanking Active TSS	A549	lung
34	chr6:1477600-1477800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:1477600-1478000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:1477600-1478000	Enhancers	Fetal Kidney	kidney
37	chr6:1477600-1478000	Enhancers	Fetal Stomach	stomach
38	chr6:1477600-1478200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:1477600-1480000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:1477800-1479000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:1477800-1479600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:1477800-1480200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:1478000-1481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:1478000-1483200	Enhancers	Osteobl	bone
45	chr6:1478200-1478800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:1478200-1479400	Weak transcription	NHEK	skin
47	chr6:1478200-1483200	Enhancers	A549	lung
48	chr6:1478600-1478800	Enhancers	Right Atrium	heart
49	chr6:1478600-1479200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:1478800-1479200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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