Variant report

Variant	esv3367849
Chromosome Location	chr6:24144473-24146521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142074245	chr6:24144479-24144480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183282637	chr6:24144512-24144513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537964972	chr6:24144538-24144539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74315583	chr6:24144610-24144611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs398084832	chr6:24144611-24144612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527435252	chr6:24144659-24144660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547296963	chr6:24144708-24144709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564371437	chr6:24144719-24144720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12190701	chr6:24144726-24144727	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10946676	chr6:24144867-24144868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570061938	chr6:24144868-24144869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535890761	chr6:24144884-24144885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187831882	chr6:24144890-24144891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549457652	chr6:24144901-24144902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189956971	chr6:24144902-24144903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535189070	chr6:24144910-24144911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558081346	chr6:24144956-24144957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578148427	chr6:24144982-24144983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537348072	chr6:24145011-24145012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557275065	chr6:24145012-24145013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77923091	chr6:24145032-24145033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182282563	chr6:24145040-24145041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561795856	chr6:24145061-24145062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572062846	chr6:24145081-24145082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541156020	chr6:24145101-24145102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564104121	chr6:24145117-24145118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187315534	chr6:24145120-24145121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543730413	chr6:24145180-24145181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563583419	chr6:24145188-24145189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192829631	chr6:24145227-24145228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201721730	chr6:24145245-24145246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67530219	chr6:24145276-24145277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs398048419	chr6:24145282-24145283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71002464	chr6:24145283-24145284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12205673	chr6:24145304-24145305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12205675	chr6:24145313-24145314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540395839	chr6:24145352-24145353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549418543	chr6:24145400-24145401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566127756	chr6:24145417-24145418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71002465	chr6:24145422-24145423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542266924	chr6:24145427-24145428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151151288	chr6:24145466-24145467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201221669	chr6:24145480-24145481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185173321	chr6:24145528-24145529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111590288	chr6:24145536-24145537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571742395	chr6:24145597-24145598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188538949	chr6:24145619-24145620	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557187353	chr6:24145654-24145655	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567641300	chr6:24145658-24145659	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs535049775	chr6:24145680-24145681	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24127600-24146800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:24140600-24145600	Weak transcription	HepG2	liver
3	chr6:24141600-24145800	Weak transcription	Brain Anterior Caudate	brain
4	chr6:24142000-24145600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:24142000-24145800	Weak transcription	Brain Angular Gyrus	brain
6	chr6:24142000-24145800	Weak transcription	Brain Germinal Matrix	brain
7	chr6:24142000-24148000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:24142000-24149800	Weak transcription	Fetal Brain Male	brain
9	chr6:24142200-24145600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:24142200-24147800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:24144200-24144800	Strong transcription	Fetal Brain Female	brain
12	chr6:24144800-24148400	Weak transcription	Fetal Brain Female	brain
13	chr6:24145600-24146400	Flanking Active TSS	HepG2	liver
14	chr6:24145600-24146600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr6:24145600-24149600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:24145800-24146000	Enhancers	Brain Angular Gyrus	brain
17	chr6:24145800-24146400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:24145800-24146400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:24145800-24146600	Enhancers	Brain Anterior Caudate	brain
20	chr6:24145800-24149400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:24145800-24149800	Enhancers	Brain Germinal Matrix	brain
22	chr6:24146400-24147800	Enhancers	HepG2	liver
23	chr6:24146400-24148600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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