Variant report

Variant	esv1849986
Chromosome Location	chr6:54376524-54441359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:54383919..54385673-chr6:54387884..54389679,2	MCF-7	breast:
2	chr6:54433346..54436074-chr6:54443412..54445005,2	MCF-7	breast:
3	chr6:54438796..54440751-chr6:54452137..54454145,2	MCF-7	breast:
4	chr6:54383919..54385673-chr6:54387884..54389679,2	MCF-7	breast:

Extended variants
information (count: 1033 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1033 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181710	chr6:54376524-54376525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531468193	chr6:54376532-54376533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9474893	chr6:54376613-54376614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568109103	chr6:54376630-54376631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1365105	chr6:54376642-54376643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556437214	chr6:54376666-54376667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543717740	chr6:54376676-54376677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367891819	chr6:54376679-54376680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570627032	chr6:54376687-54376688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141247909	chr6:54376777-54376778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114829408	chr6:54376887-54376888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576778838	chr6:54376900-54376901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183476600	chr6:54376904-54376905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186939690	chr6:54376906-54376907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192275223	chr6:54376931-54376932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574783905	chr6:54376945-54376946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374062777	chr6:54376968-54376969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533892053	chr6:54377009-54377010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184000755	chr6:54377047-54377048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187797984	chr6:54377048-54377049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113182634	chr6:54377052-54377053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191138421	chr6:54377071-54377072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576706703	chr6:54377078-54377079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541956353	chr6:54377097-54377098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182265986	chr6:54377123-54377124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528221079	chr6:54377150-54377151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs243766	chr6:54377212-54377213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547045133	chr6:54377236-54377237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376386000	chr6:54377255-54377256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564095559	chr6:54377292-54377293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561178222	chr6:54377301-54377302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75925715	chr6:54377303-54377304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549663243	chr6:54377324-54377325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1544873	chr6:54377339-54377340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186829183	chr6:54377340-54377341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191734877	chr6:54377418-54377419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568430807	chr6:54377429-54377430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534211255	chr6:54377441-54377442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115531320	chr6:54377458-54377459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577146505	chr6:54377474-54377475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540180791	chr6:54377495-54377496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549864443	chr6:54377511-54377512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145274331	chr6:54377518-54377519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550468799	chr6:54377599-54377600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185256211	chr6:54377647-54377648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576714947	chr6:54377671-54377672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111368424	chr6:54377753-54377754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190183233	chr6:54377785-54377786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572080868	chr6:54377818-54377819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541101154	chr6:54377819-54377820	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
Prostate cancer	18632612	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
Breast cancer	21785460	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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54361600-54391000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:54380000-54381400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:54380000-54381400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:54380400-54380800	Enhancers	NHEK	skin
5	chr6:54380400-54381400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:54380800-54381200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:54384200-54384600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:54391000-54391200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:54398600-54399000	Enhancers	Fetal Brain Male	brain
10	chr6:54404400-54404800	Enhancers	Osteobl	bone
11	chr6:54404800-54405800	Weak transcription	Osteobl	bone
12	chr6:54405800-54407000	Enhancers	Osteobl	bone
13	chr6:54406000-54406800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:54406000-54407400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:54406000-54407400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:54406400-54406800	Enhancers	Aorta	Aorta
17	chr6:54407200-54407400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:54407400-54411600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:54411600-54411800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:54424000-54426200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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