Variant report

Variant	esv14730
Chromosome Location	chr6:23711548-23746486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:23652837..23654514-chr6:23729115..23730862,2	MCF-7	breast:
2	chr6:23720899..23723195-chr6:23747415..23749534,2	MCF-7	breast:
3	chr6:23727349..23729834-chr6:23731098..23732910,2	K562	blood:
4	chr6:23714418..23716432-chr6:23721947..23724454,2	K562	blood:
5	chr6:23714418..23716432-chr6:23721947..23724454,2	K562	blood:
6	chr6:23741380..23742211-chr6:74038683..74039276,2	MCF-7	breast:
7	chr6:23727349..23729834-chr6:23731098..23732910,2	K562	blood:

Extended variants
information (count: 414 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568861478	chr6:23712239-23712240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529651433	chr6:23712255-23712256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547892182	chr6:23712270-23712271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6928995	chr6:23712323-23712324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6929004	chr6:23712337-23712338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553141865	chr6:23712361-23712362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183387183	chr6:23712373-23712374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536604125	chr6:23712388-23712389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539698531	chr6:23712422-23712423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115077119	chr6:23712481-23712482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111817390	chr6:23712512-23712513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9393443	chr6:23712572-23712573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189192861	chr6:23712584-23712585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193055688	chr6:23712589-23712590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374424708	chr6:23712592-23712593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573156842	chr6:23712594-23712595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77111997	chr6:23712597-23712598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1324673	chr6:23712630-23712631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577065082	chr6:23712641-23712642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534336146	chr6:23712678-23712679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544085641	chr6:23712692-23712693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386698032	chr6:23712752-23712753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113217962	chr6:23712753-23712754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11964821	chr6:23712754-23712755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs372958908	chr6:23712764-23712765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376248804	chr6:23712808-23712809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73391544	chr6:23712859-23712860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559758602	chr6:23712860-23712861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370674215	chr6:23712887-23712888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183871567	chr6:23712891-23712892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77556513	chr6:23712896-23712897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571618510	chr6:23712900-23712901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114559506	chr6:23712919-23712920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550918315	chr6:23712945-23712946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140186116	chr6:23712946-23712947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536379616	chr6:23712971-23712972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115526362	chr6:23713003-23713004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188155458	chr6:23713045-23713046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191819368	chr6:23713058-23713059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142287729	chr6:23713076-23713077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577224274	chr6:23713088-23713089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544366389	chr6:23713091-23713092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76252426	chr6:23713117-23713118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116091066	chr6:23713160-23713161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183984533	chr6:23713223-23713224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541607841	chr6:23713225-23713226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189560674	chr6:23713226-23713227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182163450	chr6:23713259-23713260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551773960	chr6:23713265-23713266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34243052	chr6:23713294-23713295	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Ovarian cancer	21720365	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23712200-23712600	Enhancers	Brain Germinal Matrix	brain
2	chr6:23712400-23713800	Enhancers	Fetal Brain Male	brain
3	chr6:23713400-23713800	Enhancers	GM12878-XiMat	blood
4	chr6:23720200-23720600	Enhancers	Lung	lung
5	chr6:23726400-23726800	Enhancers	Stomach Mucosa	stomach
6	chr6:23726800-23730000	Weak transcription	Stomach Mucosa	stomach
7	chr6:23728200-23730800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:23728800-23729200	Enhancers	Fetal Intestine Large	intestine
9	chr6:23728800-23729200	Enhancers	Rectal Smooth Muscle	rectum
10	chr6:23728800-23729400	Enhancers	Fetal Lung	lung
11	chr6:23728800-23730600	Enhancers	Fetal Heart	heart
12	chr6:23729000-23729400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:23730000-23730800	Enhancers	Stomach Mucosa	stomach
14	chr6:23735200-23735600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:23735400-23736400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:23736600-23736800	Enhancers	Fetal Heart	heart
17	chr6:23736600-23737600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:23737200-23737600	Enhancers	Fetal Heart	heart

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