Variant report

Variant	esv1798451
Chromosome Location	chr6:80222511-80234343
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:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:80211479..80218062-chr6:80218996..80224127,6	K562	blood:
2	chr6:80224927..80226694-chr6:80245209..80247983,2	MCF-7	breast:
3	chr6:80232386..80237378-chr6:80253283..80257767,7	K562	blood:
4	chr6:80215719..80218658-chr6:80221222..80223898,3	K562	blood:
5	chr6:80227058..80229732-chr6:80232396..80234486,2	MCF-7	breast:
6	chr6:80225254..80226799-chr6:80227104..80230022,2	K562	blood:
7	chr6:80229075..80231339-chr6:80247082..80250716,3	K562	blood:
8	chr6:80212286..80214570-chr6:80222627..80224495,2	K562	blood:
9	chr6:80233762..80237001-chr6:80242844..80245026,3	K562	blood:
10	chr6:80225254..80226799-chr6:80227104..80230022,2	K562	blood:
11	chr6:80227058..80229732-chr6:80232396..80234486,2	MCF-7	breast:
12	chr6:80221232..80224610-chr6:80224901..80227580,3	K562	blood:
13	chr6:80220196..80223373-chr6:80227964..80230707,4	K562	blood:
14	chr6:80233273..80237296-chr6:80243465..80250344,8	K562	blood:
15	chr6:80220196..80223373-chr6:80227964..80230707,4	K562	blood:
16	chr6:80221232..80224610-chr6:80224901..80227580,3	K562	blood:
17	chr6:80221232..80223663-chr6:80223749..80226401,2	K562	blood:
18	chr6:80218148..80219970-chr6:80220759..80223148,2	K562	blood:
19	chr6:80234104..80236785-chr6:80239338..80241775,2	K562	blood:
20	chr6:79786363..79788392-chr6:80226877..80228992,2	K562	blood:
21	chr6:80221232..80223663-chr6:80223749..80226401,2	K562	blood:
22	chr6:80233865..80235621-chr6:80253239..80255596,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3BGRL2-9	chr6:80228485-80228894	NONHSAT113695

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LCA5	hsa-miR-132-3p	chr6:80222799-80222819

Variant related genes	Relation type
ENSG00000135338	chromatin interactions
ENSG00000146247	chromatin interactions

Extended variants
information (count: 401 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539432145	chr6:80222568-80222569	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs564409999	chr6:80222614-80222615	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs149240708	chr6:80222627-80222628	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569830312	chr6:80222644-80222645	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs193193391	chr6:80222722-80222723	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs62411356	chr6:80222729-80222730	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531168790	chr6:80222765-80222766	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11757993	chr6:80222804-80222805	Weak transcription Strong transcription Active TSS Enhancers	miRNA target site	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144423875	chr6:80222805-80222806	Weak transcription Strong transcription Active TSS Enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
10	rs189953761	chr6:80222808-80222809	Weak transcription Strong transcription Active TSS Enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
11	rs139114840	chr6:80222814-80222815	Weak transcription Strong transcription Active TSS Enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
12	rs545839762	chr6:80222837-80222838	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368380453	chr6:80222883-80222884	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199627478	chr6:80222885-80222886	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566474312	chr6:80222888-80222889	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576216675	chr6:80222904-80222905	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192208237	chr6:80222917-80222918	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377719240	chr6:80222943-80222944	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562192079	chr6:80222957-80222958	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201349266	chr6:80222962-80222963	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376780475	chr6:80222970-80222971	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199824951	chr6:80222971-80222972	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527877430	chr6:80222982-80222983	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371429608	chr6:80222999-80223000	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541395332	chr6:80223007-80223008	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370574280	chr6:80223015-80223016	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139613544	chr6:80223040-80223041	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114426854	chr6:80223063-80223064	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533411137	chr6:80223101-80223102	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144016257	chr6:80223128-80223129	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374629518	chr6:80223129-80223130	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549772017	chr6:80223141-80223142	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569666879	chr6:80223150-80223151	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183669161	chr6:80223158-80223159	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189168054	chr6:80223161-80223162	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568193819	chr6:80223162-80223163	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533963525	chr6:80223165-80223166	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112915515	chr6:80223190-80223191	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570777846	chr6:80223202-80223203	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141291555	chr6:80223210-80223211	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200395970	chr6:80223248-80223249	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372673582	chr6:80223285-80223286	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145463049	chr6:80223292-80223293	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147685979	chr6:80223299-80223300	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181890907	chr6:80223311-80223312	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377617325	chr6:80223313-80223314	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576105476	chr6:80223315-80223316	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201422027	chr6:80223359-80223360	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34531407	chr6:80223368-80223369	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572580888	chr6:80223398-80223399	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Breast cancer	16272173	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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80171600-80226600	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:80179800-80235000	Weak transcription	HSMMtube	muscle
3	chr6:80189600-80225200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:80190200-80234400	Weak transcription	Fetal Intestine Large	intestine
5	chr6:80192400-80223200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:80192400-80226800	Weak transcription	Brain Anterior Caudate	brain
7	chr6:80194800-80225400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:80195400-80235000	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:80197400-80224200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:80198400-80235000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:80199000-80235000	Weak transcription	Adipose Nuclei	Adipose
12	chr6:80207600-80246000	Weak transcription	Ovary	ovary
13	chr6:80209000-80235000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:80210400-80222800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:80212400-80232600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:80213000-80224400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:80214400-80235000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:80214600-80246000	Weak transcription	Fetal Stomach	stomach
19	chr6:80215200-80229600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:80216000-80236800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:80216200-80222800	Weak transcription	Brain Substantia Nigra	brain
22	chr6:80216400-80235000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:80216400-80235000	Weak transcription	NH-A	brain
24	chr6:80217600-80224000	Weak transcription	Brain Germinal Matrix	brain
25	chr6:80217600-80235000	Weak transcription	Pancreas	Pancrea
26	chr6:80217800-80223000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:80217800-80227200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:80217800-80246000	Weak transcription	Aorta	Aorta
29	chr6:80218200-80244000	Weak transcription	Fetal Brain Female	brain
30	chr6:80218400-80228000	Weak transcription	K562	blood
31	chr6:80218400-80233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:80219000-80235400	Weak transcription	Fetal Heart	heart
33	chr6:80220200-80223800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:80220400-80230200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:80221200-80222800	Weak transcription	Fetal Lung	lung
36	chr6:80221400-80235600	Weak transcription	Fetal Kidney	kidney
37	chr6:80221600-80222800	Weak transcription	HSMM	muscle
38	chr6:80221800-80223000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:80221800-80234400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:80222000-80223000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:80222000-80224200	Strong transcription	Left Ventricle	heart
42	chr6:80222000-80225200	Weak transcription	Psoas Muscle	Psoas
43	chr6:80222000-80227400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:80222400-80223400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:80222400-80223400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:80222400-80223600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:80222400-80235200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:80222800-80223000	Enhancers	Brain Substantia Nigra	brain
49	chr6:80222800-80223400	Strong transcription	HSMM	muscle
50	chr6:80222800-80223600	Enhancers	Fetal Lung	lung

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