Variant report

Variant	esv18391
Chromosome Location	chr6:11477421-11483532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr6:11478253-11478453	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr6:11479344-11480001	ECC-1	luminal epithelium:	n/a	n/a
3	ESR1	chr6:11479464-11479865	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr6:11479462-11479859	ECC-1	luminal epithelium:	n/a	n/a
5	ESR1	chr6:11479533-11479895	ECC-1	luminal epithelium:	n/a	n/a
6	ESR1	chr6:11479385-11479881	ECC-1	luminal epithelium:	n/a	n/a
7	ESR1	chr6:11479394-11479881	ECC-1	luminal epithelium:	n/a	n/a
8	TEAD4	chr6:11479389-11479946	ECC-1	luminal epithelium:	n/a	n/a
9	ZNF263	chr6:11478803-11479212	HEK293-T-REx	kidney:	n/a	chr6:11478986-11479007

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11465282..11468042-chr6:11475688..11477880,2	MCF-7	breast:
2	chr6:11472497..11474749-chr6:11475109..11477785,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242753	TF binding region

Extended variants
information (count: 315 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6904209	chr6:11477428-11477429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563881440	chr6:11477471-11477472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142764972	chr6:11477486-11477487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74848988	chr6:11477487-11477488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6904400	chr6:11477493-11477494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs562792176	chr6:11477502-11477503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185329195	chr6:11477512-11477513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538553821	chr6:11477526-11477527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371210175	chr6:11477534-11477535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531764604	chr6:11477552-11477553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9357150	chr6:11477585-11477586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs145024924	chr6:11477611-11477612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377559147	chr6:11477718-11477719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553816772	chr6:11477746-11477747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138808048	chr6:11477753-11477754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142075079	chr6:11477788-11477789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562948034	chr6:11477820-11477821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368292184	chr6:11477868-11477869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146326234	chr6:11477903-11477904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564085756	chr6:11477920-11477921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532990844	chr6:11477932-11477933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546633779	chr6:11477933-11477934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566544735	chr6:11477947-11477948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529000185	chr6:11477958-11477959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190134873	chr6:11478070-11478071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536222234	chr6:11478190-11478191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566942105	chr6:11478192-11478193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181330306	chr6:11478208-11478209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532237674	chr6:11478307-11478308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533907981	chr6:11478308-11478309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538468907	chr6:11478319-11478320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553755410	chr6:11478343-11478344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113133639	chr6:11478390-11478391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552305857	chr6:11478414-11478415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9461774	chr6:11478434-11478435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186477733	chr6:11478450-11478451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370711195	chr6:11478459-11478460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556711659	chr6:11478461-11478462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191827907	chr6:11478474-11478475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545667151	chr6:11478534-11478535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9380311	chr6:11478536-11478537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7748276	chr6:11478575-11478576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540188733	chr6:11478609-11478610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183595767	chr6:11478637-11478638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528995747	chr6:11478652-11478653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548834758	chr6:11478706-11478707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562688804	chr6:11478731-11478732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10456408	chr6:11478736-11478737	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574081688	chr6:11478740-11478741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139369755	chr6:11478749-11478750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
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	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Melanoma	20688739	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11470200-11479200	Weak transcription	Fetal Kidney	kidney
2	chr6:11475000-11480600	Weak transcription	Placenta	Placenta
3	chr6:11478600-11479000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:11478800-11480600	Weak transcription	Ovary	ovary
5	chr6:11479200-11480200	Enhancers	Fetal Kidney	kidney
6	chr6:11480200-11491200	Weak transcription	Fetal Kidney	kidney
7	chr6:11480600-11480800	Enhancers	Pancreas	Pancrea
8	chr6:11480600-11481000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:11480600-11481200	Enhancers	Ovary	ovary
10	chr6:11481000-11483600	Weak transcription	Pancreas	Pancrea
11	chr6:11481000-11486600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:11481200-11485800	Weak transcription	Ovary	ovary
13	chr6:11482800-11483000	Enhancers	Fetal Stomach	stomach
14	chr6:11482800-11483200	Enhancers	Colon Smooth Muscle	Colon
15	chr6:11483000-11485000	Weak transcription	Fetal Stomach	stomach
16	chr6:11483400-11483800	Enhancers	Lung	lung

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