Variant report

Variant	esv1926513
Chromosome Location	chr6:33492964-33494151
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	chr6:33385003..33387538-chr6:33494085..33496852,2	K562	blood:

Variant related genes	Relation type
ENSG00000112514	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143679433	chr6:33493011-33493012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10452603	chr6:33493033-33493034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10452604	chr6:33493043-33493044	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546099056	chr6:33493054-33493055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10452588	chr6:33493071-33493072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182960837	chr6:33493079-33493080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543880437	chr6:33493131-33493132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561824468	chr6:33493145-33493146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528939429	chr6:33493148-33493149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550589039	chr6:33493154-33493155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550227423	chr6:33493156-33493157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533471710	chr6:33493161-33493162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551675507	chr6:33493175-33493176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566797246	chr6:33493200-33493201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373529205	chr6:33493222-33493223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534131697	chr6:33493228-33493229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555502064	chr6:33493229-33493230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567789255	chr6:33493235-33493236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs210189	chr6:33493278-33493279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572133463	chr6:33493299-33493300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369013304	chr6:33493319-33493320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537950556	chr6:33493321-33493322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556550131	chr6:33493336-33493337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577943996	chr6:33493354-33493355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62405919	chr6:33493387-33493388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372743988	chr6:33493426-33493427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538998867	chr6:33493465-33493466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62405920	chr6:33493467-33493468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370606097	chr6:33493615-33493616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558104912	chr6:33493651-33493652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187920014	chr6:33493731-33493732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62152444	chr6:33493750-33493751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540436622	chr6:33493767-33493768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62405921	chr6:33493797-33493798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573723414	chr6:33493802-33493803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543947928	chr6:33493803-33493804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35681945	chr6:33493935-33493936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74923407	chr6:33493936-33493937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs70996782	chr6:33493953-33493954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116098705	chr6:33493966-33493967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76268022	chr6:33494008-33494009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532788639	chr6:33494032-33494033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145176091	chr6:33494052-33494053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560425148	chr6:33494060-33494061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571102867	chr6:33494064-33494065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58032164	chr6:33494076-33494077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138922318	chr6:33494093-33494094	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566678894	chr6:33494122-33494123	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20531469	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33492800-33493400	Enhancers	HepG2	liver
2	chr6:33493400-33493800	Weak transcription	HepG2	liver
3	chr6:33493800-33494600	Enhancers	HepG2	liver

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