Variant report

Variant	nsv522084
Chromosome Location	chr6:57160035-57165948
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57161309..57164172-chr6:57164400..57166789,2	K562	blood:
2	chr6:57157436..57160343-chr6:57162380..57164952,2	K562	blood:
3	chr6:57078641..57081307-chr6:57157408..57160258,2	K562	blood:
4	chr6:57161309..57164172-chr6:57164400..57166789,2	K562	blood:
5	chr6:57157436..57160343-chr6:57162380..57164952,2	K562	blood:
6	chr6:57164742..57166787-chr6:57167425..57169539,2	K562	blood:

Extended variants
information (count: 219 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6459184	chr6:57160035-57160036	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537469209	chr6:57160039-57160040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556880357	chr6:57160143-57160144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200370535	chr6:57160144-57160145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188302052	chr6:57160145-57160146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13195089	chr6:57160157-57160158	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs180722659	chr6:57160168-57160169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549390277	chr6:57160178-57160179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34787154	chr6:57160295-57160296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569455427	chr6:57160481-57160482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147829570	chr6:57160507-57160508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542387726	chr6:57160518-57160519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139715515	chr6:57160567-57160568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145300706	chr6:57160570-57160571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9367716	chr6:57160572-57160573	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551467801	chr6:57160575-57160576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60227433	chr6:57160576-57160577	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559654508	chr6:57160584-57160585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11751737	chr6:57160585-57160586	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547919839	chr6:57160598-57160599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186728543	chr6:57160632-57160633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528411079	chr6:57160654-57160655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548739662	chr6:57160659-57160660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11758642	chr6:57160703-57160704	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553788047	chr6:57160704-57160705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77679639	chr6:57160726-57160727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537739312	chr6:57160762-57160763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558940832	chr6:57160763-57160764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570922775	chr6:57160773-57160774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368575922	chr6:57160776-57160777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189560897	chr6:57160881-57160882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7767082	chr6:57160897-57160898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553475011	chr6:57160938-57160939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571786509	chr6:57160984-57160985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542492707	chr6:57161019-57161020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554740700	chr6:57161057-57161058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144958331	chr6:57161072-57161073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375024559	chr6:57161075-57161076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182099548	chr6:57161116-57161117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143502627	chr6:57161127-57161128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576198263	chr6:57161131-57161132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114171399	chr6:57161163-57161164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9367717	chr6:57161200-57161201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs201287087	chr6:57161226-57161227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76606080	chr6:57161227-57161228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201571148	chr6:57161234-57161235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577324753	chr6:57161282-57161283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147651624	chr6:57161291-57161292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551243137	chr6:57161322-57161323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559911727	chr6:57161381-57161382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	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	21509527	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57149000-57163800	Weak transcription	Fetal Stomach	stomach
2	chr6:57159600-57160400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:57159600-57160800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:57160000-57160200	Enhancers	Fetal Brain Female	brain
5	chr6:57160200-57160800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:57160400-57162200	Weak transcription	Fetal Brain Female	brain
7	chr6:57160400-57163600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:57160600-57161400	Enhancers	Fetal Brain Male	brain
9	chr6:57160600-57163600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:57160800-57163400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:57160800-57166400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:57161400-57163200	Weak transcription	Fetal Brain Male	brain
13	chr6:57162200-57165400	Enhancers	Fetal Brain Female	brain
14	chr6:57163200-57163800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:57163200-57165400	Enhancers	Fetal Brain Male	brain
16	chr6:57163400-57163600	Weak transcription	Fetal Lung	lung
17	chr6:57163400-57163800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:57163600-57163800	Enhancers	Fetal Lung	lung
19	chr6:57163600-57163800	Enhancers	Stomach Smooth Muscle	stomach
20	chr6:57163600-57164400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:57163800-57164000	Enhancers	Fetal Kidney	kidney
22	chr6:57163800-57164000	Enhancers	Fetal Stomach	stomach
23	chr6:57163800-57165200	Enhancers	Colon Smooth Muscle	Colon
24	chr6:57163800-57165200	Weak transcription	Fetal Lung	lung
25	chr6:57163800-57166200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:57163800-57166400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:57163800-57168800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:57164000-57164600	Weak transcription	Fetal Stomach	stomach
29	chr6:57164000-57167400	Weak transcription	Fetal Kidney	kidney
30	chr6:57164200-57165400	Enhancers	Fetal Muscle Leg	muscle
31	chr6:57164200-57171600	Enhancers	Rectal Smooth Muscle	rectum
32	chr6:57164400-57167200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:57164600-57165200	Enhancers	Fetal Stomach	stomach
34	chr6:57165200-57165400	Enhancers	Fetal Lung	lung
35	chr6:57165200-57166200	Weak transcription	Fetal Stomach	stomach
36	chr6:57165200-57166400	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:57165400-57166400	Weak transcription	Fetal Lung	lung
38	chr6:57165400-57169400	Weak transcription	Fetal Muscle Leg	muscle

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