Variant report

Variant	esv3405136
Chromosome Location	chr6:28766073-28767271
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	chr6:28757752..28760408-chr6:28765977..28767794,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 102 )

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	rs527370889	chr6:28766104-28766105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562818942	chr6:28766107-28766108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7454923	chr6:28766108-28766109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531858441	chr6:28766154-28766155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114086818	chr6:28766159-28766160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568276564	chr6:28766220-28766221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9380092	chr6:28766237-28766238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564847311	chr6:28766271-28766272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190141699	chr6:28766289-28766290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200941352	chr6:28766307-28766308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376662900	chr6:28766308-28766309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376594338	chr6:28766309-28766310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181317122	chr6:28766340-28766341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577535822	chr6:28766378-28766379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35788303	chr6:28766412-28766413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186154329	chr6:28766433-28766434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373607143	chr6:28766442-28766443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368070214	chr6:28766454-28766455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371027701	chr6:28766472-28766473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189894668	chr6:28766517-28766518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9257206	chr6:28766591-28766592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9257209	chr6:28766631-28766632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201220062	chr6:28766673-28766674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565595966	chr6:28766688-28766689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13190817	chr6:28766704-28766705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539404559	chr6:28766828-28766829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146674992	chr6:28766845-28766846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111725909	chr6:28766847-28766848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576121746	chr6:28766853-28766854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11961493	chr6:28766865-28766866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141545115	chr6:28766919-28766920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572199022	chr6:28766958-28766959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185170690	chr6:28766963-28766964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150904421	chr6:28766990-28766991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577292612	chr6:28767011-28767012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2765222	chr6:28767076-28767077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562509880	chr6:28767107-28767108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28381661	chr6:28767135-28767136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs200445933	chr6:28767138-28767139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190813159	chr6:28767139-28767140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571333236	chr6:28767140-28767141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141511528	chr6:28767146-28767147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376474533	chr6:28767159-28767160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146186693	chr6:28767234-28767235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570507429	chr6:28767244-28767245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532852311	chr6:28767252-28767253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549910347	chr6:28767253-28767254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2754763	chr6:28767254-28767255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28763400-28770600	Weak transcription	HMEC	breast
2	chr6:28764600-28770400	Weak transcription	GM12878-XiMat	blood
3	chr6:28765000-28769600	Weak transcription	K562	blood
4	chr6:28765400-28768400	Weak transcription	HepG2	liver

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