Variant report

Variant	esv3425444
Chromosome Location	chr6:14816666-14816972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:14812932..14814943-chr6:14815644..14817410,3	K562	blood:
2	chr6:14814509..14817952-chr6:14819306..14824906,6	K562	blood:
3	chr6:14814819..14819286-chr6:14819431..14823938,6	K562	blood:
4	chr6:14816647..14817275-chr6:15464243..15464812,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563675085	chr6:14816697-14816698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534721419	chr6:14816722-14816723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138271765	chr6:14816741-14816742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9464721	chr6:14816816-14816817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs57980837	chr6:14816864-14816865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529560994	chr6:14816935-14816936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14805400-14819000	Weak transcription	Right Atrium	heart
2	chr6:14806400-14818800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:14809000-14824400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:14810800-14819000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:14810800-14823200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:14812200-14824000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:14814200-14818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:14814200-14822600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:14815400-14817000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:14815400-14817600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:14815400-14818800	Enhancers	Brain Germinal Matrix	brain
12	chr6:14815400-14820000	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:14815600-14816800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:14815600-14817000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:14815600-14817400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:14815600-14817800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:14815600-14818200	Enhancers	Fetal Intestine Small	intestine
18	chr6:14815800-14816800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:14815800-14817000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr6:14815800-14817000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:14815800-14817000	Enhancers	Brain Anterior Caudate	brain
22	chr6:14815800-14817200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:14815800-14817200	Enhancers	Fetal Intestine Large	intestine
24	chr6:14815800-14817600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:14815800-14818200	Enhancers	Ovary	ovary
26	chr6:14816000-14816800	Weak transcription	Fetal Kidney	kidney
27	chr6:14816000-14817200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:14816000-14817800	Enhancers	Brain Hippocampus Middle	brain
29	chr6:14816200-14816800	Enhancers	Osteobl	bone
30	chr6:14816200-14817000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:14816200-14817000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:14816200-14817400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:14816400-14817000	Weak transcription	Adipose Nuclei	Adipose
34	chr6:14816400-14817000	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:14816400-14817000	Enhancers	Brain Substantia Nigra	brain
36	chr6:14816400-14817800	Enhancers	Small Intestine	intestine
37	chr6:14816400-14818600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:14816400-14820200	Enhancers	Stomach Mucosa	stomach
39	chr6:14816400-14824200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:14816600-14817000	Enhancers	Brain Angular Gyrus	brain
41	chr6:14816600-14817400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:14816600-14817400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:14816600-14817600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:14816600-14818000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:14816600-14819400	Enhancers	Fetal Heart	heart
46	chr6:14816800-14817000	Enhancers	Fetal Kidney	kidney
47	chr6:14816800-14817600	Enhancers	Pancreas	Pancrea
48	chr6:14816800-14820800	Weak transcription	Osteobl	bone
49	chr6:14816800-14821000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:14816800-14822200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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