Variant report

Variant	esv3403889
Chromosome Location	chr6:54115993-54118041
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532256123	chr6:54116001-54116002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12214345	chr6:54116030-54116031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73741495	chr6:54116047-54116048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531503226	chr6:54116077-54116078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548118090	chr6:54116148-54116149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186514842	chr6:54116178-54116179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12201129	chr6:54116210-54116211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570483850	chr6:54116240-54116241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553570602	chr6:54116268-54116269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566815101	chr6:54116296-54116297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539135160	chr6:54116308-54116309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139563735	chr6:54116345-54116346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369818725	chr6:54116348-54116349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200658691	chr6:54116352-54116353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374756284	chr6:54116354-54116355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189745224	chr6:54116358-54116359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368882698	chr6:54116359-54116360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373396445	chr6:54116360-54116361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376412561	chr6:54116372-54116373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373805253	chr6:54116380-54116381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369874595	chr6:54116389-54116390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374100522	chr6:54116391-54116392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377759177	chr6:54116393-54116394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371245718	chr6:54116395-54116396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368582577	chr6:54116403-54116404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372340884	chr6:54116407-54116408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374272505	chr6:54116408-54116409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375901929	chr6:54116409-54116410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377407480	chr6:54116423-54116424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370088361	chr6:54116427-54116428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374837638	chr6:54116432-54116433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368369964	chr6:54116458-54116459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558635812	chr6:54116470-54116471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371966656	chr6:54116473-54116474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538531279	chr6:54116496-54116497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375305454	chr6:54116506-54116507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369042823	chr6:54116508-54116509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111209766	chr6:54116520-54116521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575066446	chr6:54116522-54116523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372585154	chr6:54116611-54116612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374285562	chr6:54116623-54116624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368207222	chr6:54116624-54116625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372264435	chr6:54116627-54116628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575086961	chr6:54116657-54116658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551934254	chr6:54116658-54116659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375317888	chr6:54116673-54116674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531269244	chr6:54116689-54116690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535284190	chr6:54116690-54116691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540801988	chr6:54116703-54116704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560684378	chr6:54116704-54116705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Prostate cancer	18632612	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
Hodgkin''s lymphoma	17606441	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
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
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54101000-54119800	Weak transcription	Right Ventricle	heart
2	chr6:54101400-54120800	Weak transcription	Psoas Muscle	Psoas
3	chr6:54102200-54119800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:54104000-54119800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:54104200-54120800	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:54109800-54119600	Weak transcription	Fetal Heart	heart
7	chr6:54112800-54121000	Weak transcription	Left Ventricle	heart

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