Variant report

Variant	esv3434705
Chromosome Location	chr6:54232193-54234741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL31-4	chr6:54234709-54234769	ENSG00000228231.2

Extended variants
information (count: 79 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113689730	chr6:54232204-54232205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181258599	chr6:54232214-54232215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185718391	chr6:54232230-54232231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs41413844	chr6:54232238-54232239	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs527536130	chr6:54232251-54232252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547386758	chr6:54232347-54232348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564241748	chr6:54232364-54232365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190669567	chr6:54232384-54232385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146355349	chr6:54232395-54232396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569408835	chr6:54232401-54232402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184048184	chr6:54232415-54232416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548611228	chr6:54232509-54232510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568364380	chr6:54232566-54232567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188896171	chr6:54232592-54232593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7750024	chr6:54232671-54232672	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148386965	chr6:54232703-54232704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140594772	chr6:54232719-54232720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539671008	chr6:54232746-54232747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73446613	chr6:54232818-54232819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7750323	chr6:54232847-54232848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541454766	chr6:54232860-54232861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377663757	chr6:54232872-54232873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9474824	chr6:54232878-54232879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9395947	chr6:54232900-54232901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151080354	chr6:54232911-54232912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562029450	chr6:54232946-54232947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9395948	chr6:54232987-54232988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372106643	chr6:54233027-54233028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575817949	chr6:54233046-54233047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113362700	chr6:54233062-54233063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541293901	chr6:54233100-54233101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564403567	chr6:54233128-54233129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190974934	chr6:54233157-54233158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550042783	chr6:54233230-54233231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538234894	chr6:54233232-54233233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182438224	chr6:54233262-54233263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142467297	chr6:54233311-54233312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571124177	chr6:54233380-54233381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187957235	chr6:54233403-54233404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191626203	chr6:54233449-54233450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184209211	chr6:54233465-54233466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570841898	chr6:54233483-54233484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539635156	chr6:54233515-54233516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143165704	chr6:54233538-54233539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556383945	chr6:54233558-54233559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371121531	chr6:54233567-54233568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187488540	chr6:54233577-54233578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376151559	chr6:54233602-54233603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555194985	chr6:54233641-54233642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571988607	chr6:54233682-54233683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
Cancer	20164919	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54211800-54256200	Weak transcription	Fetal Intestine Large	intestine
2	chr6:54212000-54257400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:54231400-54232400	Enhancers	NHEK	skin
4	chr6:54231400-54232400	Enhancers	Osteobl	bone
5	chr6:54231400-54232600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:54231400-54232600	Enhancers	HMEC	breast
7	chr6:54231400-54232800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:54231600-54232400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:54231600-54232800	Enhancers	HUVEC	blood vessel
10	chr6:54231800-54232400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:54231800-54232400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:54232000-54232200	Flanking Active TSS	NH-A	brain
13	chr6:54232200-54232400	Enhancers	NH-A	brain

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