Variant report

Variant	esv3366409
Chromosome Location	chr6:55057893-55061191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:54710275..54712638-chr6:55059512..55062485,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168143	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565254434	chr6:55057900-55057901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571948679	chr6:55057915-55057916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112739426	chr6:55057919-55057920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531044612	chr6:55057925-55057926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114369476	chr6:55057935-55057936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186299522	chr6:55057984-55057985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112697806	chr6:55058028-55058029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546764962	chr6:55058036-55058037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570356841	chr6:55058042-55058043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566687460	chr6:55058045-55058046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374814100	chr6:55058081-55058082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576070271	chr6:55058086-55058087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538949352	chr6:55058103-55058104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559172391	chr6:55058170-55058171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551776467	chr6:55058209-55058210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151084374	chr6:55058218-55058219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117209117	chr6:55058239-55058240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191605157	chr6:55058246-55058247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183008715	chr6:55058279-55058280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201790701	chr6:55058280-55058281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187229952	chr6:55058304-55058305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76896074	chr6:55058321-55058322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578052261	chr6:55058335-55058336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201188171	chr6:55058348-55058349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140802288	chr6:55058371-55058372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192159044	chr6:55058380-55058381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372879747	chr6:55058382-55058383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150112411	chr6:55058401-55058402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79847345	chr6:55058447-55058448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544614174	chr6:55058452-55058453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561267454	chr6:55058474-55058475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138388179	chr6:55058551-55058552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373688441	chr6:55058585-55058586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546505548	chr6:55058604-55058605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183132231	chr6:55058658-55058659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115994361	chr6:55058666-55058667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375846765	chr6:55058684-55058685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142673091	chr6:55058700-55058701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531249504	chr6:55058739-55058740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534968235	chr6:55058757-55058758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547772429	chr6:55058775-55058776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568093389	chr6:55058780-55058781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373249987	chr6:55058788-55058789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533859858	chr6:55058792-55058793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59420753	chr6:55058827-55058828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567017159	chr6:55058836-55058837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187856967	chr6:55058840-55058841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539344580	chr6:55058846-55058847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559339181	chr6:55058858-55058859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576001499	chr6:55058866-55058867	Weak transcription	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
Prostate cancer	18632612	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
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55054200-55062000	Weak transcription	Stomach Mucosa	stomach
2	chr6:55057200-55058400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:55057800-55063200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:55059600-55060200	Enhancers	Hela-S3	cervix
5	chr6:55060200-55063200	Weak transcription	Hela-S3	cervix

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