Variant report

Variant	esv3444681
Chromosome Location	chr6:55962018-55964341
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	chr22:21977904..21980225-chr6:55963610..55966434,2	MCF-7	breast:

Extended variants
information (count: 169 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187958591	chr6:55962020-55962021	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552687112	chr6:55962030-55962031	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569242956	chr6:55962042-55962043	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193197626	chr6:55962043-55962044	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559164714	chr6:55962069-55962070	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62404896	chr6:55962092-55962093	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568388596	chr6:55962093-55962094	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185023486	chr6:55962103-55962104	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369640494	chr6:55962104-55962105	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147902452	chr6:55962148-55962149	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187775294	chr6:55962161-55962162	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141574008	chr6:55962171-55962172	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12209509	chr6:55962183-55962184	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541427084	chr6:55962285-55962286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561318940	chr6:55962302-55962303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147031865	chr6:55962313-55962314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570739293	chr6:55962317-55962318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138258090	chr6:55962323-55962324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374970401	chr6:55962335-55962336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560412473	chr6:55962360-55962361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142021104	chr6:55962361-55962362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575300045	chr6:55962371-55962372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569339542	chr6:55962372-55962373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112474263	chr6:55962379-55962380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531687576	chr6:55962415-55962416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369146812	chr6:55962439-55962440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548619895	chr6:55962445-55962446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs66585712	chr6:55962481-55962482	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs66953461	chr6:55962489-55962490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192393420	chr6:55962500-55962501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570644195	chr6:55962508-55962509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539627250	chr6:55962510-55962511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556037516	chr6:55962551-55962552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563268030	chr6:55962567-55962568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183673408	chr6:55962570-55962571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188289280	chr6:55962582-55962583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535142619	chr6:55962588-55962589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545858354	chr6:55962599-55962600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112322032	chr6:55962637-55962638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112508110	chr6:55962645-55962646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376672657	chr6:55962652-55962653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368632315	chr6:55962654-55962655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191195586	chr6:55962669-55962670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185043878	chr6:55962715-55962716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71550504	chr6:55962733-55962734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372933130	chr6:55962734-55962735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189407932	chr6:55962743-55962744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181929439	chr6:55962757-55962758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528750658	chr6:55962788-55962789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375424640	chr6:55962795-55962796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55920600-56018400	Weak transcription	Ovary	ovary
2	chr6:55956600-55965800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:55956600-55978400	Weak transcription	Aorta	Aorta
4	chr6:55956800-55965600	Weak transcription	NHLF	lung
5	chr6:55957800-55962200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:55958200-55965600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:55958600-55962200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr6:55959600-55969600	Weak transcription	Fetal Lung	lung
9	chr6:55960600-55977800	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:55960600-55978000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:55961200-55962200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:55961200-55962400	Enhancers	NHDF-Ad	bronchial
13	chr6:55961200-55962600	Enhancers	HUVEC	blood vessel
14	chr6:55961200-55964400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:55961400-55969600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:55961600-55962200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:55961600-55962400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:55961600-55964400	Weak transcription	Pancreas	Pancrea
19	chr6:55962000-55962200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:55962000-55962400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:55962200-55962400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:55962200-55962600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr6:55962200-55964200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:55962200-55965600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:55962200-55977200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:55962400-55964800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:55962400-55965200	Weak transcription	NHDF-Ad	bronchial
28	chr6:55962400-55965800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:55962600-55963800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr6:55962600-55965800	Weak transcription	HUVEC	blood vessel
31	chr6:55963600-55963800	Enhancers	Right Atrium	heart
32	chr6:55963800-55967400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr6:55964200-55967200	Enhancers	Primary neutrophils fromperipheralblood	blood

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