Variant report

Variant	esv3368740
Chromosome Location	chr6:24054028-24054565
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	chr6:24052796..24054479-chr6:24058448..24061278,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146382778	chr6:24054075-24054076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546530671	chr6:24054085-24054086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138489318	chr6:24054091-24054092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538287697	chr6:24054122-24054123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115207446	chr6:24054152-24054153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190057340	chr6:24054159-24054160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369209172	chr6:24054177-24054178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554480175	chr6:24054178-24054179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373355320	chr6:24054181-24054182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374951239	chr6:24054187-24054188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375597892	chr6:24054188-24054189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370112091	chr6:24054189-24054190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10946661	chr6:24054191-24054192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372659732	chr6:24054196-24054197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376383931	chr6:24054197-24054198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371596508	chr6:24054198-24054199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374206364	chr6:24054199-24054200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373307442	chr6:24054200-24054201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368493918	chr6:24054201-24054202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149637664	chr6:24054202-24054203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201804549	chr6:24054203-24054204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377659015	chr6:24054204-24054205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199915344	chr6:24054205-24054206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370389302	chr6:24054208-24054209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369482843	chr6:24054209-24054210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374714464	chr6:24054211-24054212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377693120	chr6:24054215-24054216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201040952	chr6:24054216-24054217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368142533	chr6:24054217-24054218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10946662	chr6:24054223-24054224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142561083	chr6:24054225-24054226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10946663	chr6:24054226-24054227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371467880	chr6:24054231-24054232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113584559	chr6:24054232-24054233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373829189	chr6:24054233-24054234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376935370	chr6:24054234-24054235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374605879	chr6:24054235-24054236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201250735	chr6:24054237-24054238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140125826	chr6:24054240-24054241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369194563	chr6:24054242-24054243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375161609	chr6:24054243-24054244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368401365	chr6:24054245-24054246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371788252	chr6:24054246-24054247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374555151	chr6:24054248-24054249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368774512	chr6:24054249-24054250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372717239	chr6:24054250-24054251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12526407	chr6:24054257-24054258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375053275	chr6:24054259-24054260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369022065	chr6:24054261-24054262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11962554	chr6:24054262-24054263	Weak transcription	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24052000-24054200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr6:24052800-24054200	Enhancers	Fetal Brain Male	brain
3	chr6:24054200-24054600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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