Variant report

Variant	esv3472017
Chromosome Location	chr6:1684069-1684358
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	chr6:1650312..1652659-chr6:1683276..1685859,2	MCF-7	breast:
2	chr6:1605266..1613695-chr6:1683912..1689235,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054598	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570364975	chr6:1684112-1684113	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559459819	chr6:1684130-1684131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs528548680	chr6:1684147-1684148	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551387530	chr6:1684150-1684151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116080964	chr6:1684151-1684152	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186502434	chr6:1684153-1684154	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189732608	chr6:1684166-1684167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368502960	chr6:1684175-1684176	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569754200	chr6:1684178-1684179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371636991	chr6:1684191-1684192	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377286021	chr6:1684197-1684198	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs58400837	chr6:1684201-1684202	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181738982	chr6:1684203-1684204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs60102612	chr6:1684206-1684207	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577523065	chr6:1684241-1684242	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs62388271	chr6:1684247-1684248	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537345473	chr6:1684250-1684251	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs62388272	chr6:1684253-1684254	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112138224	chr6:1684270-1684271	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs62388273	chr6:1684291-1684292	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs60238721	chr6:1684301-1684302	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542846114	chr6:1684303-1684304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553127450	chr6:1684306-1684307	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573023741	chr6:1684316-1684317	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1667800-1687800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:1677800-1686200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:1678800-1688000	Weak transcription	Spleen	Spleen
4	chr6:1679400-1693600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:1679600-1695600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:1679600-1715600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:1679800-1685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:1679800-1685800	Weak transcription	Right Atrium	heart
9	chr6:1680000-1685400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:1680000-1685800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:1680200-1685600	Weak transcription	Osteobl	bone
12	chr6:1680400-1685800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:1680400-1685800	Weak transcription	HMEC	breast
14	chr6:1680400-1685800	Weak transcription	HSMMtube	muscle
15	chr6:1680800-1685800	Weak transcription	Right Ventricle	heart
16	chr6:1680800-1685800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:1680800-1685800	Weak transcription	NH-A	brain
18	chr6:1681000-1685800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:1681000-1685800	Weak transcription	Lung	lung
20	chr6:1681000-1685800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:1681600-1685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:1681600-1685800	Weak transcription	Esophagus	oesophagus
23	chr6:1681600-1685800	Weak transcription	Fetal Heart	heart
24	chr6:1681600-1685800	Weak transcription	Left Ventricle	heart
25	chr6:1681600-1686200	Weak transcription	Gastric	stomach
26	chr6:1681600-1699200	Weak transcription	Pancreas	Pancrea
27	chr6:1681800-1685600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:1682800-1685800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:1683000-1698600	Weak transcription	Primary T cells from cord blood	blood
30	chr6:1683400-1686000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:1683800-1685000	Strong transcription	HepG2	liver

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