Variant report

Variant	esv2473553
Chromosome Location	chr18:6540841-6542406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:5867908..5868506-chr18:6541176..6541747,2	MCF-7	breast:
2	chr18:5073001..5073821-chr18:6541209..6541754,2	MCF-7	breast:
3	chr18:5879246..5879912-chr18:6540886..6542138,3	MCF-7	breast:
4	chr18:5867118..5868077-chr18:6541162..6541809,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34336897	chr18:6540845-6540846	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs569118622	chr18:6540861-6540862	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs147728784	chr18:6540874-6540875	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs12956957	chr18:6540881-6540882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574456203	chr18:6540885-6540886	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs142557797	chr18:6540896-6540897	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs74384612	chr18:6540899-6540900	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs532779297	chr18:6541000-6541001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs7407601	chr18:6541010-6541011	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs35063865	chr18:6541032-6541033	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs79865901	chr18:6541064-6541065	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs368823591	chr18:6541127-6541128	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576171501	chr18:6541142-6541143	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs541980187	chr18:6541145-6541146	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs73389134	chr18:6541207-6541208	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146894284	chr18:6541212-6541213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147958793	chr18:6541214-6541215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116925972	chr18:6541222-6541223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141911852	chr18:6541241-6541242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143051922	chr18:6541264-6541265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73389135	chr18:6541282-6541283	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs34388747	chr18:6541340-6541341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71163281	chr18:6541343-6541344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548750142	chr18:6541352-6541353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34507480	chr18:6541362-6541363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55882616	chr18:6541369-6541370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548244317	chr18:6541380-6541381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56063310	chr18:6541394-6541395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568101480	chr18:6541451-6541452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76190761	chr18:6541475-6541476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533881259	chr18:6541493-6541494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553854545	chr18:6541620-6541621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370881159	chr18:6541667-6541668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539405199	chr18:6541687-6541688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs66864204	chr18:6541741-6541742	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs9950154	chr18:6541752-6541753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535745374	chr18:6541782-6541783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71163282	chr18:6541784-6541785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199802280	chr18:6541785-6541786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182235406	chr18:6541794-6541795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572099221	chr18:6541802-6541803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199971849	chr18:6541845-6541846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540340815	chr18:6541879-6541880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560180600	chr18:6541895-6541896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532395016	chr18:6541911-6541912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564368531	chr18:6541941-6541942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368258740	chr18:6541949-6541950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545772486	chr18:6541951-6541952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532627730	chr18:6541956-6541957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578109724	chr18:6541957-6541958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Breast cancer	17133270	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Obesity	20622171	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6538200-6546000	Weak transcription	Adipose Nuclei	Adipose
2	chr18:6540000-6541400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:6540000-6541400	Enhancers	Hela-S3	cervix
4	chr18:6540000-6542000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr18:6540000-6542000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr18:6540200-6541200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:6540200-6541200	Enhancers	Fetal Lung	lung
8	chr18:6540400-6541000	Enhancers	HMEC	breast
9	chr18:6540400-6541200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:6540400-6541800	Enhancers	HUVEC	blood vessel
11	chr18:6540600-6541200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr18:6540800-6541000	Enhancers	Brain Germinal Matrix	brain
13	chr18:6540800-6541200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:6540800-6545800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:6541000-6541800	Weak transcription	Brain Germinal Matrix	brain
16	chr18:6541000-6546000	Weak transcription	HMEC	breast
17	chr18:6541200-6541800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr18:6541200-6542800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:6541200-6543600	Weak transcription	Fetal Lung	lung
20	chr18:6541400-6545600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr18:6541800-6544000	Enhancers	Brain Germinal Matrix	brain
22	chr18:6542000-6543400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr18:6542000-6547600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr18:6542400-6543200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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