Variant report

Variant	esv1666582
Chromosome Location	chr6:1552957-1552963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:1498802..1499697-chr6:1552475..1552977,2	MCF-7	breast:
2	chr6:1540042..1541785-chr6:1551983..1554224,2	MCF-7	breast:
3	chr6:1546489..1548541-chr6:1551535..1553787,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GMDS-6	chr6:1548086-1553288	NONHSAT106513
2	lnc-GMDS-6	chr6:1548086-1553288	NONHSAT106514
3	lnc-GMDS-6	chr6:1548843-1554045	NONHSAT106516
4	lnc-GMDS-6	chr6:1548843-1554045	NONHSAT106515

No data

Extended variants
information (count: 2 )
Associated
traits (count: 68 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66649945	chr6:1552958-1552959	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs59557051	chr6:1552963-1552964	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1527800-1555000	Weak transcription	Gastric	stomach
2	chr6:1535800-1554400	Weak transcription	Psoas Muscle	Psoas
3	chr6:1536000-1554000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:1537200-1554000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:1537600-1553200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:1538000-1554400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:1538600-1554000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:1538600-1554200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:1539400-1554400	Weak transcription	Right Ventricle	heart
10	chr6:1539600-1554000	Weak transcription	NHDF-Ad	bronchial
11	chr6:1543800-1554200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:1544200-1554000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:1544400-1554000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr6:1545800-1554200	Weak transcription	HSMM	muscle
15	chr6:1546400-1554200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:1546600-1554400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:1547000-1554400	Weak transcription	A549	lung
18	chr6:1547400-1554600	Weak transcription	Brain Substantia Nigra	brain
19	chr6:1548200-1554400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:1548200-1554400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:1548200-1554600	Weak transcription	Fetal Stomach	stomach
22	chr6:1548200-1554800	Weak transcription	Esophagus	oesophagus
23	chr6:1548400-1554400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:1548400-1554600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:1548600-1554000	Weak transcription	Osteobl	bone
26	chr6:1548800-1554400	Weak transcription	Aorta	Aorta
27	chr6:1548800-1554800	Weak transcription	Ovary	ovary
28	chr6:1549000-1554000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:1549000-1554000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:1549000-1554000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr6:1549000-1554400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:1549000-1555000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:1549400-1553600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:1551800-1553400	Enhancers	Liver	Liver
35	chr6:1552400-1553000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr6:1552400-1553200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:1552600-1553000	Enhancers	Brain Anterior Caudate	brain
38	chr6:1552600-1553000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr6:1552600-1553200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr6:1552600-1553200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr6:1552600-1553600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:1552600-1553600	Enhancers	Adipose Nuclei	Adipose
43	chr6:1552600-1554000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:1552600-1554000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:1552600-1554600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:1552600-1555000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:1552800-1553000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:1552800-1553200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:1552800-1553800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:1552800-1553800	Weak transcription	Hela-S3	cervix

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