Variant report

Variant	esv3431356
Chromosome Location	chr6:72083881-72085879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GAT2-3	chr6:72084745-72085090	NONHSAT113496
2	lnc-B3GAT2-3	chr6:72082956-72084734	NONHSAT113496

Extended variants
information (count: 102 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548013875	chr6:72083891-72083892	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs57187710	chr6:72083925-72083926	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533882648	chr6:72083942-72083943	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs539290533	chr6:72083949-72083950	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs58011923	chr6:72083988-72083989	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs828647	chr6:72083997-72083998	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs12662004	chr6:72084014-72084015	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs34607272	chr6:72084034-72084035	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs62403965	chr6:72084047-72084048	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs146039136	chr6:72084066-72084067	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs373668485	chr6:72084092-72084093	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs116505952	chr6:72084095-72084096	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs542329702	chr6:72084104-72084105	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs560709103	chr6:72084133-72084134	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs572625321	chr6:72084160-72084161	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs546527741	chr6:72084182-72084183	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs556395352	chr6:72084198-72084199	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs564767364	chr6:72084209-72084210	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs532032340	chr6:72084222-72084223	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs78790123	chr6:72084257-72084258	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs562326310	chr6:72084266-72084267	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs529777730	chr6:72084311-72084312	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs368136563	chr6:72084352-72084353	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs9455446	chr6:72084379-72084380	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566335557	chr6:72084389-72084390	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs1192035	chr6:72084412-72084413	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552206153	chr6:72084413-72084414	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs191813995	chr6:72084457-72084458	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs537728266	chr6:72084463-72084464	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs556555879	chr6:72084487-72084488	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs112698514	chr6:72084617-72084618	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs536001377	chr6:72084640-72084641	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs578240611	chr6:72084667-72084668	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs531974535	chr6:72084681-72084682	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs71556999	chr6:72084690-72084691	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs9346468	chr6:72084691-72084692	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs70990367	chr6:72084700-72084701	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs9455447	chr6:72084701-72084702	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs529489736	chr6:72084704-72084705	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs71891433	chr6:72084705-72084706	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs568545883	chr6:72084716-72084717	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs112847757	chr6:72084719-72084720	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs71557000	chr6:72084729-72084730	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs375687280	chr6:72084730-72084731	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs368054552	chr6:72084733-72084734	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs554266837	chr6:72084734-72084735	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs369121892	chr6:72084739-72084740	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74198292	chr6:72084741-72084742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373926131	chr6:72084742-72084743	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377578744	chr6:72084744-72084745	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Ependymoma	16718352	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72061600-72097000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:72071400-72085200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:72075400-72087200	Weak transcription	Fetal Heart	heart
4	chr6:72076000-72084000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:72076000-72093400	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:72076200-72103200	Weak transcription	Aorta	Aorta
7	chr6:72076600-72087600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:72076600-72090200	Weak transcription	Ovary	ovary
9	chr6:72077000-72084000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:72077600-72084000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:72077600-72085400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:72077600-72093400	Weak transcription	Brain Anterior Caudate	brain
13	chr6:72077600-72094800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:72077800-72087800	Weak transcription	Right Ventricle	heart
15	chr6:72077800-72088000	Weak transcription	Left Ventricle	heart
16	chr6:72077800-72093000	Weak transcription	Lung	lung
17	chr6:72077800-72093200	Weak transcription	Pancreas	Pancrea
18	chr6:72077800-72097000	Weak transcription	Psoas Muscle	Psoas
19	chr6:72077800-72097200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:72078200-72084000	Weak transcription	NHDF-Ad	bronchial
21	chr6:72078200-72095400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:72079800-72098800	Weak transcription	Brain Substantia Nigra	brain
23	chr6:72080400-72084400	Strong transcription	HSMM	muscle
24	chr6:72081200-72084400	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr6:72081200-72087800	Weak transcription	HSMMtube	muscle
26	chr6:72081400-72091400	Strong transcription	Hela-S3	cervix
27	chr6:72081600-72084400	Weak transcription	Fetal Brain Male	brain
28	chr6:72082000-72087000	Weak transcription	Fetal Kidney	kidney
29	chr6:72082200-72084000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:72082200-72090800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:72082400-72088000	Weak transcription	Liver	Liver
32	chr6:72082600-72093200	Weak transcription	Osteobl	bone
33	chr6:72082800-72085200	Weak transcription	HUVEC	blood vessel
34	chr6:72082800-72086200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:72083400-72084000	Enhancers	Colon Smooth Muscle	Colon
36	chr6:72083400-72084400	Enhancers	Adipose Nuclei	Adipose
37	chr6:72083400-72084600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:72083400-72087200	Enhancers	HMEC	breast
39	chr6:72083400-72094600	Weak transcription	Fetal Intestine Large	intestine
40	chr6:72083600-72084000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:72083600-72084000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr6:72083600-72084400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:72083600-72084400	ZNF genes & repeats	A549	lung
44	chr6:72083600-72084600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:72083800-72084200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr6:72083800-72084200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:72083800-72084400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:72083800-72084400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:72083800-72084400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:72083800-72084400	Strong transcription	Fetal Lung	lung

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