Variant report

Variant	esv3362036
Chromosome Location	chr6:79646533-79650631
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:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:79643799..79646665-chr6:79651824..79654665,2	K562	blood:
2	chr6:79647356..79649255-chr6:79650126..79652701,2	K562	blood:
3	chr6:79647356..79649255-chr6:79650126..79652701,2	K562	blood:
4	chr6:79650100..79651603-chr6:79654723..79657145,2	K562	blood:
5	chr6:79647755..79649635-chr6:79649831..79651626,2	K562	blood:
6	chr6:79647755..79649635-chr6:79649831..79651626,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PHIP	hsa-miR-16-5p	chr6:79650328-79650322

Extended variants
information (count: 141 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568745279	chr6:79646533-79646534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537710091	chr6:79646540-79646541	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35881759	chr6:79646555-79646556	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182791706	chr6:79646563-79646564	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35125759	chr6:79646571-79646572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1044309	chr6:79646575-79646576	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs34261531	chr6:79646619-79646620	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375161530	chr6:79646632-79646633	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs567853832	chr6:79646637-79646638	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553529180	chr6:79646656-79646657	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs576870228	chr6:79646737-79646738	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs545944132	chr6:79646779-79646780	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs116023286	chr6:79646831-79646832	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs529853168	chr6:79646844-79646845	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576725518	chr6:79646907-79646908	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs187076523	chr6:79646971-79646972	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs151019330	chr6:79646973-79646974	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs570464295	chr6:79647017-79647018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562702498	chr6:79647088-79647089	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77290081	chr6:79647103-79647104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139458644	chr6:79647110-79647111	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192992957	chr6:79647120-79647121	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116279941	chr6:79647216-79647217	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80290654	chr6:79647247-79647248	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183617492	chr6:79647252-79647253	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372130247	chr6:79647259-79647260	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568681924	chr6:79647303-79647304	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72902825	chr6:79647363-79647364	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143216558	chr6:79647395-79647396	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201918575	chr6:79647407-79647408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76871224	chr6:79647408-79647409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397823390	chr6:79647410-79647411	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200949532	chr6:79647411-79647412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79535069	chr6:79647412-79647413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs193256159	chr6:79647444-79647445	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553706950	chr6:79647449-79647450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570387014	chr6:79647466-79647467	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539506801	chr6:79647503-79647504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556316541	chr6:79647564-79647565	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146682726	chr6:79647586-79647587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527248271	chr6:79647613-79647614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542431905	chr6:79647642-79647643	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184598230	chr6:79647676-79647677	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546655599	chr6:79647711-79647712	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113074418	chr6:79647719-79647720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546692899	chr6:79647788-79647789	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4464748	chr6:79647978-79647979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74551157	chr6:79648028-79648029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188218120	chr6:79648032-79648033	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74362767	chr6:79648050-79648051	Weak transcription Strong transcription 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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79639600-79650400	Weak transcription	HSMMtube	muscle
2	chr6:79640400-79655000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr6:79640600-79648800	Weak transcription	Fetal Kidney	kidney
4	chr6:79641400-79647000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:79641600-79650200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:79642400-79649400	Weak transcription	Adipose Nuclei	Adipose
7	chr6:79642400-79650000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:79642400-79653000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:79642600-79649400	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:79642600-79649400	Weak transcription	Osteobl	bone
11	chr6:79642600-79658200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:79642800-79649000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:79642800-79649400	Weak transcription	Fetal Lung	lung
14	chr6:79642800-79650400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:79643200-79648800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:79643200-79649000	Weak transcription	GM12878-XiMat	blood
17	chr6:79643200-79649400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:79643200-79653000	Weak transcription	HMEC	breast
19	chr6:79643400-79648000	Weak transcription	HUVEC	blood vessel
20	chr6:79643600-79646600	Enhancers	Fetal Heart	heart
21	chr6:79643600-79650200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:79643600-79651600	Weak transcription	Primary T cells from cord blood	blood
23	chr6:79643800-79648800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:79643800-79648800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:79643800-79649000	Weak transcription	Primary B cells from cord blood	blood
26	chr6:79644000-79646800	Weak transcription	Hela-S3	cervix
27	chr6:79644000-79647200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:79644000-79649400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:79644000-79658600	Strong transcription	Dnd41	blood
30	chr6:79644200-79648000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr6:79644400-79648800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:79644400-79648800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:79644400-79650200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:79644400-79650400	Weak transcription	Fetal Brain Male	brain
35	chr6:79644400-79651600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:79644600-79649000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:79644600-79649400	Weak transcription	Fetal Intestine Large	intestine
38	chr6:79644600-79649600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:79644600-79654000	Weak transcription	Brain Substantia Nigra	brain
40	chr6:79644800-79655400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:79645000-79646600	Weak transcription	Liver	Liver
42	chr6:79645000-79647200	Weak transcription	Placenta	Placenta
43	chr6:79645000-79649600	Weak transcription	Fetal Thymus	thymus
44	chr6:79645000-79657400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:79645200-79648800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:79645600-79647200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr6:79645600-79648400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:79645600-79653200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:79645600-79658200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:79645600-79658600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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