Variant report

Variant	esv3433714
Chromosome Location	chr6:82449633-82452106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr6:82451528-82451676	K562	blood:	n/a	n/a
2	KAP1	chr6:82449455-82449831	U2OS	brain:	n/a	n/a
3	MAFF	chr6:82449378-82449725	HepG2	liver:	n/a	chr6:82449537-82449555
4	MAFK	chr6:82449355-82449722	HepG2	liver:	n/a	chr6:82449543-82449554 chr6:82449412-82449429 chr6:82449409-82449425 chr6:82449409-82449420 chr6:82449538-82449553 chr6:82449410-82449421 chr6:82449409-82449420 chr6:82449408-82449422
5	MAFK	chr6:82449284-82449706	HepG2	liver:	n/a	chr6:82449543-82449554 chr6:82449412-82449429 chr6:82449409-82449425 chr6:82449409-82449420 chr6:82449538-82449553 chr6:82449410-82449421 chr6:82449409-82449420 chr6:82449408-82449422
6	MAFK	chr6:82449364-82449711	IMR90	lung:	n/a	chr6:82449543-82449554 chr6:82449412-82449429 chr6:82449409-82449425 chr6:82449409-82449420 chr6:82449538-82449553 chr6:82449410-82449421 chr6:82449409-82449420 chr6:82449408-82449422
7	POLR2A	chr6:82449762-82449869	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr6:82449684-82449696	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:82451873..82455312-chr6:82456113..82458454,3	MCF-7	breast:
2	chr6:82449873..82453287-chr6:82454959..82457628,4	K562	blood:
3	chr6:82448675..82451514-chr6:82474859..82477314,2	MCF-7	breast:
4	chr6:82450819..82454484-chr6:82461443..82464031,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232031	TF binding region
ENSG00000112773	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs612631	chr6:82449663-82449664	Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs572981478	chr6:82449667-82449668	Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs141059561	chr6:82449700-82449701	Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs589125	chr6:82449701-82449702	Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs612675	chr6:82449705-82449706	Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373472063	chr6:82449713-82449714	Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs558011742	chr6:82449722-82449723	Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs578115352	chr6:82449726-82449727	Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs377453398	chr6:82449772-82449773	Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs113762132	chr6:82449778-82449779	Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs529631748	chr6:82449786-82449787	Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs589590	chr6:82449806-82449807	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs542988099	chr6:82449824-82449825	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559975979	chr6:82449835-82449836	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs528728922	chr6:82449836-82449837	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs187280251	chr6:82449850-82449851	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs613573	chr6:82449895-82449896	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571010789	chr6:82449935-82449936	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10669513	chr6:82449973-82449974	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10650961	chr6:82449974-82449975	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386407726	chr6:82449975-82449976	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200674818	chr6:82449976-82449977	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs397720270	chr6:82449977-82449978	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144807279	chr6:82449995-82449996	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376546132	chr6:82450003-82450004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7756693	chr6:82450036-82450037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564911629	chr6:82450070-82450071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535823121	chr6:82450071-82450072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369684795	chr6:82450080-82450081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74341749	chr6:82450081-82450082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9294236	chr6:82450092-82450093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533624470	chr6:82450119-82450120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552105167	chr6:82450134-82450135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115601700	chr6:82450179-82450180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192623385	chr6:82450213-82450214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566989727	chr6:82450221-82450222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184546486	chr6:82450235-82450236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559802227	chr6:82450260-82450261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16893402	chr6:82450346-82450347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs369078821	chr6:82450397-82450398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187469761	chr6:82450430-82450431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117665398	chr6:82450442-82450443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530992478	chr6:82450453-82450454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9767790	chr6:82450468-82450469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550288724	chr6:82450469-82450470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560130113	chr6:82450471-82450472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560646487	chr6:82450480-82450481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374120336	chr6:82450481-82450482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367805579	chr6:82450482-82450483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9767792	chr6:82450494-82450495	Weak transcription	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
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
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
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82422800-82451800	Weak transcription	Aorta	Aorta
2	chr6:82437800-82459400	Weak transcription	Pancreas	Pancrea
3	chr6:82442000-82455000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:82442000-82456200	Weak transcription	Small Intestine	intestine
5	chr6:82442600-82454400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:82444800-82455600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:82445800-82456400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:82446000-82454400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:82446000-82455000	Weak transcription	Liver	Liver
10	chr6:82446000-82455400	Weak transcription	NHDF-Ad	bronchial
11	chr6:82446000-82459600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:82446200-82453600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:82446200-82453600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:82446200-82454800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:82446400-82451800	Weak transcription	Placenta	Placenta
16	chr6:82446400-82455000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:82447000-82455200	Weak transcription	Hela-S3	cervix
18	chr6:82448400-82455000	Weak transcription	Right Ventricle	heart
19	chr6:82448400-82456200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:82449400-82450000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr6:82449400-82456200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:82449600-82449800	Genic enhancers	Left Ventricle	heart
23	chr6:82449600-82450000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr6:82449600-82458800	Weak transcription	Fetal Lung	lung
25	chr6:82449800-82454800	Weak transcription	Left Ventricle	heart
26	chr6:82450000-82450200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:82450000-82451400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:82450200-82453600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr6:82450600-82455600	Weak transcription	Ovary	ovary
30	chr6:82451200-82457800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:82451400-82452200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr6:82451600-82451800	Enhancers	Stomach Mucosa	stomach
33	chr6:82451800-82452200	Enhancers	Aorta	Aorta
34	chr6:82451800-82452200	Enhancers	Placenta	Placenta
35	chr6:82451800-82457000	Weak transcription	Stomach Mucosa	stomach
36	chr6:82452000-82455200	Weak transcription	HSMM	muscle

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