Variant report

Variant	esv3447139
Chromosome Location	chr6:27906923-27909621
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27900872..27904331-chr6:27905533..27908216,3	K562	blood:
2	chr6:27869224..27870861-chr6:27906811..27908499,2	K562	blood:
3	chr6:27905285..27912363-chr6:27912383..27920173,13	K562	blood:
4	chr6:27906019..27908649-chr6:27909756..27911913,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142891258	chr6:27906946-27906947	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112171438	chr6:27906982-27906983	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116282533	chr6:27907012-27907013	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184696723	chr6:27907073-27907074	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570003718	chr6:27907095-27907096	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147416058	chr6:27907192-27907193	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542411293	chr6:27907207-27907208	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537066334	chr6:27907217-27907218	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559522382	chr6:27907227-27907228	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573020713	chr6:27907249-27907250	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188441599	chr6:27907270-27907271	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564468923	chr6:27907337-27907338	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115537782	chr6:27907372-27907373	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550208089	chr6:27907396-27907397	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs276372	chr6:27907404-27907405	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs529407439	chr6:27907520-27907521	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192225113	chr6:27907540-27907541	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566295821	chr6:27907548-27907549	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369144408	chr6:27907711-27907712	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139153434	chr6:27907839-27907840	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551706274	chr6:27907897-27907898	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184611051	chr6:27907903-27907904	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73394718	chr6:27907907-27907908	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536611395	chr6:27907935-27907936	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188246580	chr6:27908071-27908072	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181736731	chr6:27908082-27908083	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575093371	chr6:27908104-27908105	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112962853	chr6:27908119-27908120	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563995413	chr6:27908206-27908207	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536363749	chr6:27908210-27908211	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552878290	chr6:27908352-27908353	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111816830	chr6:27908354-27908355	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71559057	chr6:27908369-27908370	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545312272	chr6:27908392-27908393	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113535032	chr6:27908448-27908449	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371190233	chr6:27908458-27908459	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575612555	chr6:27908553-27908554	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149919421	chr6:27908556-27908557	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374150215	chr6:27908616-27908617	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111383388	chr6:27908631-27908632	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144960442	chr6:27908639-27908640	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184749718	chr6:27908725-27908726	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72848766	chr6:27908756-27908757	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs16868163	chr6:27908771-27908772	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551571608	chr6:27908776-27908777	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571562075	chr6:27908798-27908799	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531132314	chr6:27909028-27909029	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546382156	chr6:27909069-27909070	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148633197	chr6:27909133-27909134	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567290476	chr6:27909198-27909199	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27902400-27908600	Strong transcription	K562	blood
2	chr6:27908600-27909600	Genic enhancers	K562	blood
3	chr6:27909600-27913600	Weak transcription	K562	blood

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