Variant report

Variant	esv3392865
Chromosome Location	chr6:27237523-27239471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27228304..27231014-chr6:27236000..27238035,2	K562	blood:
2	chr6:27217433..27222114-chr6:27239356..27243364,5	K562	blood:
3	chr6:27113551..27116491-chr6:27237691..27240092,2	K562	blood:

Variant related genes	Relation type
ENSG00000112812	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000265565	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76564374	chr6:27237534-27237535	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs146172143	chr6:27237535-27237536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73738708	chr6:27237543-27237544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs77094841	chr6:27237549-27237550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528052220	chr6:27237559-27237560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563429149	chr6:27237571-27237572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546311572	chr6:27237622-27237623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140185218	chr6:27237666-27237667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549008193	chr6:27237676-27237677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565527760	chr6:27237678-27237679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2024993	chr6:27237684-27237685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181728676	chr6:27237685-27237686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552056050	chr6:27237713-27237714	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs575125862	chr6:27237736-27237737	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs571891622	chr6:27237765-27237766	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs537607259	chr6:27237901-27237902	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs557257793	chr6:27237937-27237938	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs17687319	chr6:27238000-27238001	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs536346863	chr6:27238008-27238009	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs111419877	chr6:27238044-27238045	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs569092247	chr6:27238052-27238053	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs143853242	chr6:27238057-27238058	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs540932245	chr6:27238077-27238078	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs564014619	chr6:27238108-27238109	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs535283546	chr6:27238109-27238110	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs185685385	chr6:27238197-27238198	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs564644839	chr6:27238223-27238224	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs543238434	chr6:27238243-27238244	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs201067274	chr6:27238249-27238250	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs563332732	chr6:27238260-27238261	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs529023810	chr6:27238275-27238276	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs548761437	chr6:27238278-27238279	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs559303268	chr6:27238279-27238280	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs191190691	chr6:27238296-27238297	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs552119364	chr6:27238303-27238304	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs61323507	chr6:27238310-27238311	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs1234144	chr6:27238315-27238316	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs572004344	chr6:27238323-27238324	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs200577030	chr6:27238329-27238330	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs139354195	chr6:27238332-27238333	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs2024992	chr6:27238339-27238340	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs2024991	chr6:27238350-27238351	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs5028923	chr6:27238351-27238352	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs2024990	chr6:27238355-27238356	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs554101102	chr6:27238356-27238357	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs11964255	chr6:27238368-27238369	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs70981154	chr6:27238375-27238376	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs186041579	chr6:27238378-27238379	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs149157463	chr6:27238386-27238387	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs142281439	chr6:27238395-27238396	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Hodgkin''s lymphoma	17606441	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27237000-27241800	Weak transcription	K562	blood

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