Variant report

Variant	esv2128592
Chromosome Location	chr6:11616092-11616614
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	chr6:11615083..11617199-chr6:12286030..12287822,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552404436	chr6:11616098-11616099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187780709	chr6:11616106-11616107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140757188	chr6:11616107-11616108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528679871	chr6:11616108-11616109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548807973	chr6:11616117-11616118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3069286	chr6:11616129-11616130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568303417	chr6:11616130-11616131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199818141	chr6:11616192-11616193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537378999	chr6:11616196-11616197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371758909	chr6:11616197-11616198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569328175	chr6:11616220-11616221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145470785	chr6:11616229-11616230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558373349	chr6:11616235-11616236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561411545	chr6:11616253-11616254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530379426	chr6:11616273-11616274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60439913	chr6:11616282-11616283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs67471151	chr6:11616289-11616290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147810708	chr6:11616292-11616293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540760206	chr6:11616320-11616321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs58206124	chr6:11616384-11616385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111743359	chr6:11616402-11616403	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs199679417	chr6:11616404-11616405	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs114360223	chr6:11616436-11616437	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565820884	chr6:11616460-11616461	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs546567923	chr6:11616473-11616474	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192445846	chr6:11616476-11616477	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs183515723	chr6:11616482-11616483	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs58679553	chr6:11616562-11616563	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532558078	chr6:11616567-11616568	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs546130515	chr6:11616605-11616606	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs559482521	chr6:11616606-11616607	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11610200-11631400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:11611200-11616400	Weak transcription	Left Ventricle	heart
3	chr6:11611200-11616400	Weak transcription	Ovary	ovary
4	chr6:11611200-11616400	Weak transcription	Psoas Muscle	Psoas
5	chr6:11611200-11622600	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:11612400-11616400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:11612800-11617000	Enhancers	HSMMtube	muscle
8	chr6:11613000-11616600	Enhancers	NHLF	lung
9	chr6:11613000-11616800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:11613200-11616400	Enhancers	NH-A	brain
11	chr6:11613200-11616800	Enhancers	Hela-S3	cervix
12	chr6:11613200-11617000	Enhancers	NHDF-Ad	bronchial
13	chr6:11613200-11617000	Enhancers	Osteobl	bone
14	chr6:11613200-11617200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:11613600-11616200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:11613600-11616800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:11613600-11617000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:11613800-11616600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:11613800-11617000	Enhancers	HSMM	muscle
20	chr6:11614200-11616400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:11614400-11616800	Enhancers	Placenta	Placenta
22	chr6:11614400-11617000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:11614800-11617000	Enhancers	HUVEC	blood vessel
24	chr6:11615400-11617000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:11615600-11616400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:11615600-11616400	Enhancers	Colon Smooth Muscle	Colon
27	chr6:11615600-11616400	Weak transcription	Lung	lung
28	chr6:11615600-11616400	Weak transcription	A549	lung
29	chr6:11615600-11617000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:11615600-11621400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:11615800-11616200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:11615800-11616400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:11616000-11616800	Enhancers	Stomach Smooth Muscle	stomach
34	chr6:11616200-11617000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr6:11616400-11616600	Enhancers	Psoas Muscle	Psoas
36	chr6:11616400-11616600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr6:11616400-11616800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:11616400-11616800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:11616400-11616800	Enhancers	Fetal Muscle Trunk	muscle
40	chr6:11616400-11616800	Enhancers	Fetal Stomach	stomach
41	chr6:11616400-11616800	Enhancers	Left Ventricle	heart
42	chr6:11616400-11616800	Enhancers	Lung	lung
43	chr6:11616400-11616800	Enhancers	Ovary	ovary
44	chr6:11616400-11616800	Enhancers	Rectal Smooth Muscle	rectum
45	chr6:11616400-11616800	Enhancers	A549	lung
46	chr6:11616400-11616800	Flanking Active TSS	NH-A	brain
47	chr6:11616400-11619600	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:11616600-11616800	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr6:11616600-11617000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:11616600-11618200	Weak transcription	NHLF	lung

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