Variant report

Variant	esv3491371
Chromosome Location	chr6:55823042-55838002
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	chr6:55824417..55826728-chr6:55848243..55849781,2	K562	blood:

Extended variants
information (count: 498 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181455803	chr6:55823095-55823096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185828541	chr6:55823096-55823097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188586337	chr6:55823157-55823158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574724927	chr6:55823172-55823173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7748142	chr6:55823186-55823187	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547653063	chr6:55823221-55823222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553894089	chr6:55823236-55823237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181748656	chr6:55823256-55823257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138281255	chr6:55823262-55823263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562604129	chr6:55823299-55823300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531320945	chr6:55823319-55823320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541853615	chr6:55823378-55823379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561530969	chr6:55823384-55823385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12193200	chr6:55823414-55823415	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374132142	chr6:55823437-55823438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114165215	chr6:55823487-55823488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376170143	chr6:55823504-55823505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13198823	chr6:55823723-55823724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149607939	chr6:55823765-55823766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13199154	chr6:55823768-55823769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114754650	chr6:55823819-55823820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367894048	chr6:55823820-55823821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377677771	chr6:55823876-55823877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569051444	chr6:55823989-55823990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9464313	chr6:55823991-55823992	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143082033	chr6:55823996-55823997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371978210	chr6:55824008-55824009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12201907	chr6:55824013-55824014	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138702272	chr6:55824038-55824039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13218448	chr6:55824058-55824059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142721162	chr6:55824153-55824154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577093899	chr6:55824198-55824199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186046893	chr6:55824207-55824208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539682900	chr6:55824218-55824219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78065466	chr6:55824233-55824234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576158790	chr6:55824234-55824235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541568992	chr6:55824245-55824246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561689697	chr6:55824246-55824247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539054094	chr6:55824360-55824361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571966808	chr6:55824367-55824368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369540689	chr6:55824392-55824393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139793340	chr6:55824425-55824426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6459119	chr6:55824452-55824453	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs532558859	chr6:55824514-55824515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375574169	chr6:55824534-55824535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552400693	chr6:55824539-55824540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141778018	chr6:55824547-55824548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12208505	chr6:55824553-55824554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150579251	chr6:55824599-55824600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6459120	chr6:55824670-55824671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55818600-55827600	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:55822200-55823600	Enhancers	Fetal Lung	lung
3	chr6:55822600-55824600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:55822800-55824000	Enhancers	NHDF-Ad	bronchial
5	chr6:55823000-55823400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:55823000-55823400	Enhancers	Fetal Stomach	stomach
7	chr6:55823200-55823400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:55823200-55823400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:55823400-55828200	Weak transcription	Fetal Stomach	stomach
10	chr6:55823600-55828600	Weak transcription	Fetal Lung	lung
11	chr6:55827600-55828400	Enhancers	Colon Smooth Muscle	Colon
12	chr6:55828200-55828600	Enhancers	Fetal Stomach	stomach
13	chr6:55828400-55833800	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:55828600-55829200	Enhancers	Fetal Lung	lung
15	chr6:55828600-55833400	Weak transcription	Fetal Stomach	stomach
16	chr6:55829200-55833800	Weak transcription	Fetal Lung	lung
17	chr6:55833400-55834200	Enhancers	Fetal Stomach	stomach
18	chr6:55833800-55834000	Enhancers	Colon Smooth Muscle	Colon
19	chr6:55833800-55834800	Enhancers	Fetal Lung	lung
20	chr6:55834000-55834800	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:55834800-55835000	Enhancers	Colon Smooth Muscle	Colon
22	chr6:55835200-55835400	Enhancers	Fetal Heart	heart
23	chr6:55835400-55837000	Weak transcription	Fetal Heart	heart
24	chr6:55837000-55837600	Enhancers	Fetal Heart	heart
25	chr6:55837800-55838600	Enhancers	Cortex derived primary cultured neurospheres	brain

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