Variant report

Variant	nsv514362
Chromosome Location	chr6:55826705-55843625
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: 457 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:457 , 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	rs145540992	chr6:55826710-55826711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79013903	chr6:55826761-55826762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2843539	chr6:55826769-55826770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542516849	chr6:55826773-55826774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555646077	chr6:55826791-55826792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12199050	chr6:55826807-55826808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541514453	chr6:55826818-55826819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188985841	chr6:55826837-55826838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191534057	chr6:55826895-55826896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543885939	chr6:55826908-55826909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571375461	chr6:55826982-55826983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563704091	chr6:55827066-55827067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151104387	chr6:55827081-55827082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9357880	chr6:55827100-55827101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549278357	chr6:55827149-55827150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559258561	chr6:55827160-55827161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528299943	chr6:55827168-55827169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551047681	chr6:55827179-55827180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571054220	chr6:55827232-55827233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373761630	chr6:55827280-55827281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562017327	chr6:55827323-55827324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367640700	chr6:55827340-55827341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550263684	chr6:55827343-55827344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373343751	chr6:55827352-55827353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs66536855	chr6:55827353-55827354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371334874	chr6:55827354-55827355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs33959431	chr6:55827355-55827356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572804447	chr6:55827390-55827391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371688549	chr6:55827422-55827423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202147807	chr6:55827445-55827446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200343503	chr6:55827451-55827452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201674921	chr6:55827452-55827453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3065857	chr6:55827454-55827455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376400567	chr6:55827455-55827456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377044101	chr6:55827460-55827461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535745588	chr6:55827461-55827462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556052920	chr6:55827538-55827539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547947969	chr6:55827547-55827548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572659389	chr6:55827617-55827618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535273848	chr6:55827625-55827626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183767069	chr6:55827653-55827654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188834633	chr6:55827660-55827661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181108580	chr6:55827676-55827677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77253349	chr6:55827694-55827695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574003201	chr6:55827765-55827766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536694368	chr6:55827780-55827781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141203854	chr6:55827787-55827788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146939613	chr6:55827788-55827789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528265124	chr6:55827799-55827800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551112872	chr6:55827840-55827841	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55818600-55827600	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:55823400-55828200	Weak transcription	Fetal Stomach	stomach
3	chr6:55823600-55828600	Weak transcription	Fetal Lung	lung
4	chr6:55827600-55828400	Enhancers	Colon Smooth Muscle	Colon
5	chr6:55828200-55828600	Enhancers	Fetal Stomach	stomach
6	chr6:55828400-55833800	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:55828600-55829200	Enhancers	Fetal Lung	lung
8	chr6:55828600-55833400	Weak transcription	Fetal Stomach	stomach
9	chr6:55829200-55833800	Weak transcription	Fetal Lung	lung
10	chr6:55833400-55834200	Enhancers	Fetal Stomach	stomach
11	chr6:55833800-55834000	Enhancers	Colon Smooth Muscle	Colon
12	chr6:55833800-55834800	Enhancers	Fetal Lung	lung
13	chr6:55834000-55834800	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:55834800-55835000	Enhancers	Colon Smooth Muscle	Colon
15	chr6:55835200-55835400	Enhancers	Fetal Heart	heart
16	chr6:55835400-55837000	Weak transcription	Fetal Heart	heart
17	chr6:55837000-55837600	Enhancers	Fetal Heart	heart
18	chr6:55837800-55838600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:55839400-55840000	Enhancers	HUVEC	blood vessel
20	chr6:55840800-55841000	Bivalent Enhancer	Lung	lung
21	chr6:55842400-55844000	Enhancers	Fetal Lung	lung

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