Variant report

Variant	esv3347160
Chromosome Location	chr6:55822042-55847532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:55845353..55845898-chr6:56157360..56158001,3	MCF-7	breast:
2	chr6:55845084..55846120-chr6:56156878..56158381,9	MCF-7	breast:
3	chr6:55845445..55846395-chr6:55861990..55862829,3	MCF-7	breast:
4	chr6:55824417..55826728-chr6:55848243..55849781,2	K562	blood:

Extended variants
information (count: 742 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184330497	chr6:55822042-55822043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562904988	chr6:55822046-55822047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189494444	chr6:55822141-55822142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7770907	chr6:55822142-55822143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540465060	chr6:55822148-55822149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545269184	chr6:55822212-55822213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147545510	chr6:55822229-55822230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564256648	chr6:55822283-55822284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532200755	chr6:55822335-55822336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73444300	chr6:55822379-55822380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113037601	chr6:55822465-55822466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113701203	chr6:55822470-55822471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193020864	chr6:55822474-55822475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4299832	chr6:55822503-55822504	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568617585	chr6:55822580-55822581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567987163	chr6:55822708-55822709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184490791	chr6:55822760-55822761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189063227	chr6:55822771-55822772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528827872	chr6:55822889-55822890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566731322	chr6:55822918-55822919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9475486	chr6:55822959-55822960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs373137719	chr6:55822962-55822963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558649341	chr6:55823038-55823039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181455803	chr6:55823095-55823096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185828541	chr6:55823096-55823097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188586337	chr6:55823157-55823158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574724927	chr6:55823172-55823173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7748142	chr6:55823186-55823187	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547653063	chr6:55823221-55823222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553894089	chr6:55823236-55823237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181748656	chr6:55823256-55823257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138281255	chr6:55823262-55823263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562604129	chr6:55823299-55823300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531320945	chr6:55823319-55823320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541853615	chr6:55823378-55823379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561530969	chr6:55823384-55823385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12193200	chr6:55823414-55823415	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374132142	chr6:55823437-55823438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114165215	chr6:55823487-55823488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376170143	chr6:55823504-55823505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13198823	chr6:55823723-55823724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149607939	chr6:55823765-55823766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13199154	chr6:55823768-55823769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114754650	chr6:55823819-55823820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367894048	chr6:55823820-55823821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377677771	chr6:55823876-55823877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569051444	chr6:55823989-55823990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9464313	chr6:55823991-55823992	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs143082033	chr6:55823996-55823997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371978210	chr6:55824008-55824009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55818400-55822200	Weak transcription	Fetal Lung	lung
2	chr6:55818400-55823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:55818600-55822600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:55818600-55822800	Weak transcription	NHDF-Ad	bronchial
5	chr6:55818600-55827600	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:55822000-55823000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:55822200-55823600	Enhancers	Fetal Lung	lung
8	chr6:55822600-55824600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:55822800-55824000	Enhancers	NHDF-Ad	bronchial
10	chr6:55823000-55823400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:55823000-55823400	Enhancers	Fetal Stomach	stomach
12	chr6:55823200-55823400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:55823200-55823400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:55823400-55828200	Weak transcription	Fetal Stomach	stomach
15	chr6:55823600-55828600	Weak transcription	Fetal Lung	lung
16	chr6:55827600-55828400	Enhancers	Colon Smooth Muscle	Colon
17	chr6:55828200-55828600	Enhancers	Fetal Stomach	stomach
18	chr6:55828400-55833800	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:55828600-55829200	Enhancers	Fetal Lung	lung
20	chr6:55828600-55833400	Weak transcription	Fetal Stomach	stomach
21	chr6:55829200-55833800	Weak transcription	Fetal Lung	lung
22	chr6:55833400-55834200	Enhancers	Fetal Stomach	stomach
23	chr6:55833800-55834000	Enhancers	Colon Smooth Muscle	Colon
24	chr6:55833800-55834800	Enhancers	Fetal Lung	lung
25	chr6:55834000-55834800	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:55834800-55835000	Enhancers	Colon Smooth Muscle	Colon
27	chr6:55835200-55835400	Enhancers	Fetal Heart	heart
28	chr6:55835400-55837000	Weak transcription	Fetal Heart	heart
29	chr6:55837000-55837600	Enhancers	Fetal Heart	heart
30	chr6:55837800-55838600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:55839400-55840000	Enhancers	HUVEC	blood vessel
32	chr6:55840800-55841000	Bivalent Enhancer	Lung	lung
33	chr6:55842400-55844000	Enhancers	Fetal Lung	lung
34	chr6:55843800-55844200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:55844200-55844600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:55844600-55844800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:55844600-55845000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr6:55844800-55847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:55845400-55846200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:55845800-55846400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:55845800-55846400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:55846000-55846200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:55846000-55846200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:55846000-55846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:55846200-55846400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:55846200-55847400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:55846400-55846800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:55846400-55847600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:55846400-55847800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:55846800-55847200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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