Variant report

Variant	esv3349672
Chromosome Location	chr6:12967586-12967810
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	chr6:12966482..12969474-chr6:12970571..12972855,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563063252	chr6:12967621-12967622	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4715023	chr6:12967645-12967646	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs138171140	chr6:12967652-12967653	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149136940	chr6:12967659-12967660	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528776368	chr6:12967703-12967704	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377693149	chr6:12967704-12967705	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77666349	chr6:12967787-12967788	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Breast cancer	21990379	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12959200-12968000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:12961000-12968400	Weak transcription	Brain Substantia Nigra	brain
3	chr6:12962800-12968000	Weak transcription	Brain Angular Gyrus	brain
4	chr6:12963200-12967800	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:12963400-12967800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:12963600-12967600	Weak transcription	NHDF-Ad	bronchial
7	chr6:12963600-12969400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:12963600-12971000	Weak transcription	HSMM	muscle
9	chr6:12963600-12971600	Weak transcription	Spleen	Spleen
10	chr6:12963600-12972400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:12963600-12973000	Weak transcription	Pancreas	Pancrea
12	chr6:12963600-12974600	Weak transcription	Right Ventricle	heart
13	chr6:12964000-12967800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr6:12964000-12968200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:12964000-12968200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:12964000-12971400	Enhancers	Fetal Heart	heart
17	chr6:12964000-12988000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:12964200-12968000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:12964200-12968000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:12964200-12968400	Weak transcription	Fetal Lung	lung
21	chr6:12964800-12968000	Weak transcription	Brain Anterior Caudate	brain
22	chr6:12964800-12968200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:12964800-12969400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:12965200-12967800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:12965200-12968200	Weak transcription	Aorta	Aorta
26	chr6:12965200-12971000	Weak transcription	HUVEC	blood vessel
27	chr6:12966000-12968800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr6:12966200-12968000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:12966200-12968200	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:12966600-12967800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:12966600-12972800	Weak transcription	Lung	lung
32	chr6:12966800-12975600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:12967200-12967800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:12967400-12967600	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:12967400-12968400	Enhancers	Left Ventricle	heart
36	chr6:12967400-12968800	Enhancers	Fetal Muscle Leg	muscle
37	chr6:12967600-12968000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr6:12967600-12968200	Enhancers	NHDF-Ad	bronchial
39	chr6:12967800-12968000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:12967800-12968000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr6:12967800-12968200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:12967800-12968800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:12967800-12969000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:12967800-12969200	Enhancers	Brain Hippocampus Middle	brain
45	chr6:12967800-12969400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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