Variant report

Variant	esv3440984
Chromosome Location	chr6:1898149-1898443
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	chr6:1893216..1895870-chr6:1897285..1899194,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13200110	chr6:1898180-1898181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545405889	chr6:1898182-1898183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9391937	chr6:1898188-1898189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13211675	chr6:1898211-1898212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60440856	chr6:1898219-1898220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13211678	chr6:1898222-1898223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9392343	chr6:1898242-1898243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111788210	chr6:1898250-1898251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9503039	chr6:1898273-1898274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544634455	chr6:1898279-1898280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9501780	chr6:1898281-1898282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61171046	chr6:1898304-1898305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554973210	chr6:1898310-1898311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60500745	chr6:1898312-1898313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113987655	chr6:1898319-1898320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9501781	chr6:1898335-1898336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9391938	chr6:1898343-1898344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112928357	chr6:1898346-1898347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2181632	chr6:1898366-1898367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2181633	chr6:1898374-1898375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28662219	chr6:1898380-1898381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573985785	chr6:1898382-1898383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs70992109	chr6:1898394-1898395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112822729	chr6:1898397-1898398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111602804	chr6:1898405-1898406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144007579	chr6:1898426-1898427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559325534	chr6:1898436-1898437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1851400-1909600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr6:1877600-1915200	Weak transcription	Primary T cells from cord blood	blood
3	chr6:1886200-1901400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:1886200-1904000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:1890600-1904000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:1890600-1911400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:1891800-1914800	Weak transcription	Colonic Mucosa	Colon
8	chr6:1894200-1898200	Weak transcription	Gastric	stomach
9	chr6:1894200-1904000	Weak transcription	Pancreas	Pancrea
10	chr6:1895800-1904000	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:1895800-1910800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:1895800-1911200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:1896000-1916400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:1896200-1901400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:1896400-1901200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:1896400-1910800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:1896600-1899600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:1896600-1901400	Weak transcription	Aorta	Aorta
19	chr6:1896600-1901800	Weak transcription	Osteobl	bone
20	chr6:1896600-1904800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:1896600-1905000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:1897000-1898200	Strong transcription	HepG2	liver
23	chr6:1897200-1916200	Weak transcription	Thymus	Thymus
24	chr6:1897400-1898400	Weak transcription	Stomach Mucosa	stomach
25	chr6:1897400-1915000	Weak transcription	Esophagus	oesophagus
26	chr6:1897400-1915000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:1897600-1904400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:1898200-1898600	Enhancers	Gastric	stomach
29	chr6:1898200-1905000	Weak transcription	HepG2	liver
30	chr6:1898400-1900400	Enhancers	Stomach Mucosa	stomach

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