Variant report

Variant	nsv603188
Chromosome Location	chr6:55832161-55850440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 403 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12190342	chr6:55832161-55832162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183829078	chr6:55832226-55832227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114092586	chr6:55832227-55832228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532225664	chr6:55832231-55832232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9382570	chr6:55832258-55832259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79901706	chr6:55832291-55832292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542326977	chr6:55832338-55832339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562037810	chr6:55832346-55832347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538999462	chr6:55832423-55832424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374245048	chr6:55832448-55832449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62405042	chr6:55832467-55832468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570193678	chr6:55832476-55832477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139109009	chr6:55832478-55832479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376213796	chr6:55832486-55832487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16887441	chr6:55832538-55832539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs57563300	chr6:55832544-55832545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533258208	chr6:55832559-55832560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186599843	chr6:55832681-55832682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62405043	chr6:55832685-55832686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs149742041	chr6:55832736-55832737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191846291	chr6:55832768-55832769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552323654	chr6:55832833-55832834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568837667	chr6:55832840-55832841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548697913	chr6:55832879-55832880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546750508	chr6:55832922-55832923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75310650	chr6:55832936-55832937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534358674	chr6:55832946-55832947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2745747	chr6:55832956-55832957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184603254	chr6:55832961-55832962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540138492	chr6:55833027-55833028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371192243	chr6:55833063-55833064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144969630	chr6:55833094-55833095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58821824	chr6:55833146-55833147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528971743	chr6:55833179-55833180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6938871	chr6:55833220-55833221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs56680053	chr6:55833227-55833228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149058254	chr6:55833229-55833230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143298045	chr6:55833274-55833275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374682634	chr6:55833278-55833279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376073690	chr6:55833319-55833320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564480629	chr6:55833327-55833328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533042684	chr6:55833330-55833331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9382571	chr6:55833383-55833384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550070635	chr6:55833394-55833395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556202091	chr6:55833406-55833407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143046263	chr6:55833476-55833477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529120782	chr6:55833579-55833580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377467667	chr6:55833586-55833587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566889998	chr6:55833649-55833650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73455127	chr6:55833651-55833652	Weak transcription Enhancers	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55828400-55833800	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:55828600-55833400	Weak transcription	Fetal Stomach	stomach
3	chr6:55829200-55833800	Weak transcription	Fetal Lung	lung
4	chr6:55833400-55834200	Enhancers	Fetal Stomach	stomach
5	chr6:55833800-55834000	Enhancers	Colon Smooth Muscle	Colon
6	chr6:55833800-55834800	Enhancers	Fetal Lung	lung
7	chr6:55834000-55834800	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:55834800-55835000	Enhancers	Colon Smooth Muscle	Colon
9	chr6:55835200-55835400	Enhancers	Fetal Heart	heart
10	chr6:55835400-55837000	Weak transcription	Fetal Heart	heart
11	chr6:55837000-55837600	Enhancers	Fetal Heart	heart
12	chr6:55837800-55838600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:55839400-55840000	Enhancers	HUVEC	blood vessel
14	chr6:55840800-55841000	Bivalent Enhancer	Lung	lung
15	chr6:55842400-55844000	Enhancers	Fetal Lung	lung
16	chr6:55843800-55844200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:55844200-55844600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:55844600-55844800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:55844600-55845000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:55844800-55847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:55845400-55846200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:55845800-55846400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:55845800-55846400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:55846000-55846200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:55846000-55846200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:55846000-55846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:55846200-55846400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:55846200-55847400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:55846400-55846800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:55846400-55847600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:55846400-55847800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:55846800-55847200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:55847200-55848400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:55847400-55848000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:55847600-55848000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr6:55847800-55848200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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