Variant report

Variant	esv3352398
Chromosome Location	chr6:4254846-4255329
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	chr6:4252767..4255076-chr6:4255779..4258262,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530622635	chr6:4254861-4254862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112811007	chr6:4254872-4254873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56129641	chr6:4254887-4254888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79581373	chr6:4254921-4254922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77326445	chr6:4254945-4254946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543962429	chr6:4254966-4254967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10223763	chr6:4254970-4254971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113682314	chr6:4255019-4255020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111924913	chr6:4255052-4255053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs66698520	chr6:4255068-4255069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372280913	chr6:4255101-4255102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546214194	chr6:4255106-4255107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs67141406	chr6:4255113-4255114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10524298	chr6:4255117-4255118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9392572	chr6:4255150-4255151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560076054	chr6:4255152-4255153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11380133	chr6:4255161-4255162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs68088338	chr6:4255162-4255163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13193434	chr6:4255198-4255199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11347200	chr6:4255210-4255211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113378474	chr6:4255247-4255248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111812498	chr6:4255263-4255264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112083478	chr6:4255296-4255297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534168488	chr6:4255309-4255310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182264362	chr6:4255312-4255313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4253200-4255000	Enhancers	HUVEC	blood vessel
2	chr6:4253400-4255000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:4254200-4259000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:4254400-4255000	Enhancers	Adipose Nuclei	Adipose
5	chr6:4254400-4258000	Weak transcription	Lung	lung
6	chr6:4254600-4255000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:4254600-4256800	Weak transcription	Placenta	Placenta
8	chr6:4254600-4258200	Weak transcription	Left Ventricle	heart
9	chr6:4254600-4259600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:4254800-4256800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:4254800-4258200	Weak transcription	Right Atrium	heart
12	chr6:4254800-4258800	Weak transcription	NHEK	skin
13	chr6:4254800-4259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:4255000-4255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:4255000-4256800	Weak transcription	HUVEC	blood vessel

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