Variant report

Variant	esv12046
Chromosome Location	chr6:56265335-56265821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56252272..56255163-chr6:56263455..56266276,3	MCF-7	breast:
2	chr6:56263868..56266502-chr6:56269861..56271738,2	MCF-7	breast:
3	chr6:56263704..56266113-chr6:56287391..56289066,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140804	chr6:56265339-56265340	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs59777529	chr6:56265340-56265341	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs137932853	chr6:56265341-56265342	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs72544268	chr6:56265342-56265343	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs397773129	chr6:56265343-56265344	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs577924303	chr6:56265351-56265352	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs669728	chr6:56265383-56265384	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559977099	chr6:56265414-56265415	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs669656	chr6:56265421-56265422	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs200461663	chr6:56265430-56265431	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201405974	chr6:56265432-56265433	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199541627	chr6:56265433-56265434	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75475133	chr6:56265504-56265505	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564030471	chr6:56265524-56265525	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs629506	chr6:56265544-56265545	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562646573	chr6:56265581-56265582	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549758555	chr6:56265594-56265595	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531552469	chr6:56265597-56265598	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532072938	chr6:56265613-56265614	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs555709464	chr6:56265621-56265622	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs629057	chr6:56265632-56265633	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536469984	chr6:56265635-56265636	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs569607422	chr6:56265651-56265652	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs554535251	chr6:56265666-56265667	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs73457846	chr6:56265669-56265670	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537000207	chr6:56265679-56265680	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs558988706	chr6:56265792-56265793	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Central neurocytomas	17123091	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56253000-56282600	Weak transcription	Aorta	Aorta
2	chr6:56261800-56265600	Enhancers	Fetal Intestine Large	intestine
3	chr6:56263400-56265600	Enhancers	Fetal Intestine Small	intestine
4	chr6:56263800-56265400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr6:56264200-56265400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:56264200-56265400	Enhancers	Pancreas	Pancrea
7	chr6:56264200-56265800	Active TSS	Duodenum Mucosa	Duodenum
8	chr6:56264400-56268600	Weak transcription	Small Intestine	intestine
9	chr6:56264600-56265600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr6:56264800-56265400	Enhancers	Gastric	stomach
11	chr6:56264800-56265800	Flanking Active TSS	HepG2	liver
12	chr6:56265000-56265400	Flanking Active TSS	A549	lung
13	chr6:56265200-56265400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:56265200-56265400	Active TSS	Liver	Liver
15	chr6:56265200-56265400	Enhancers	Fetal Kidney	kidney
16	chr6:56265200-56265600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr6:56265200-56268600	Weak transcription	Hela-S3	cervix
18	chr6:56265200-56270000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:56265200-56270200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:56265200-56271200	Weak transcription	Stomach Mucosa	stomach
21	chr6:56265400-56265600	Flanking Active TSS	Liver	Liver
22	chr6:56265400-56265600	Active TSS	A549	lung
23	chr6:56265400-56270000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:56265400-56270000	Weak transcription	Gastric	stomach
25	chr6:56265600-56265800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:56265600-56266600	Active TSS	Liver	Liver
27	chr6:56265600-56268600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:56265600-56269200	Weak transcription	Fetal Intestine Small	intestine
29	chr6:56265800-56266000	Enhancers	Pancreatic Islets	Pancreatic Islet

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