Variant report

Variant	esv3317377
Chromosome Location	chr18:30495689-30501262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:30479602..30480672-chr18:30499517..30500435,5	MCF-7	breast:
2	chr18:30294270..30295293-chr18:30499582..30500548,5	MCF-7	breast:
3	chr18:30492146..30494495-chr18:30497517..30499760,2	K562	blood:
4	chr18:30479533..30480412-chr18:30499540..30500172,2	MCF-7	breast:
5	chr18:30293724..30294417-chr18:30499835..30500382,2	MCF-7	breast:
6	chr18:30294450..30295198-chr18:30499539..30500758,7	MCF-7	breast:
7	chr18:30492890..30494424-chr18:30498589..30500639,2	MCF-7	breast:
8	chr18:30155970..30156491-chr18:30499440..30500054,2	MCF-7	breast:

No data

Extended variants
information (count: 195 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs148170556	chr18:30495702-30495703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183483134	chr18:30495717-30495718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186863325	chr18:30495741-30495742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549926754	chr18:30495751-30495752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191298741	chr18:30495765-30495766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561009470	chr18:30495770-30495771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535530646	chr18:30495785-30495786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570660183	chr18:30495869-30495870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531540697	chr18:30495874-30495875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547459913	chr18:30495889-30495890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551056152	chr18:30495929-30495930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569391432	chr18:30495930-30495931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141998951	chr18:30496007-30496008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374864984	chr18:30496126-30496127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534231764	chr18:30496173-30496174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371059391	chr18:30496202-30496203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182937438	chr18:30496231-30496232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187103164	chr18:30496248-30496249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574619707	chr18:30496264-30496265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150516312	chr18:30496277-30496278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560325881	chr18:30496279-30496280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367562239	chr18:30496332-30496333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374467698	chr18:30496378-30496379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545784160	chr18:30496383-30496384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564379584	chr18:30496431-30496432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189690165	chr18:30496448-30496449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550037019	chr18:30496453-30496454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561859124	chr18:30496462-30496463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536622790	chr18:30496478-30496479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554645195	chr18:30496588-30496589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574982717	chr18:30496589-30496590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539386083	chr18:30496601-30496602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138654757	chr18:30496638-30496639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9954593	chr18:30496722-30496723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs142774709	chr18:30496758-30496759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556379863	chr18:30496760-30496761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376264350	chr18:30496774-30496775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9954363	chr18:30496783-30496784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535556853	chr18:30496818-30496819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78058384	chr18:30496846-30496847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80226472	chr18:30496847-30496848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531322399	chr18:30496868-30496869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534217529	chr18:30496909-30496910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28727512	chr18:30497004-30497005	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564298464	chr18:30497015-30497016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187559863	chr18:30497044-30497045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28569891	chr18:30497052-30497053	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs28516867	chr18:30497123-30497124	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552824689	chr18:30497150-30497151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147381813	chr18:30497178-30497179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30494800-30496400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:30495400-30495800	Enhancers	Primary B cells from peripheral blood	blood
3	chr18:30495400-30496000	Enhancers	Primary B cells from cord blood	blood
4	chr18:30495600-30495800	Enhancers	Fetal Brain Male	brain
5	chr18:30495800-30498600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr18:30495800-30498600	Weak transcription	Fetal Brain Male	brain
7	chr18:30496400-30499800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr18:30497000-30497200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:30497200-30497400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:30497400-30497800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:30497600-30500200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:30498400-30500400	Enhancers	Primary B cells from cord blood	blood
13	chr18:30498600-30499200	Enhancers	Fetal Brain Male	brain
14	chr18:30498600-30500200	Enhancers	Primary B cells from peripheral blood	blood
15	chr18:30498800-30500000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:30499600-30502000	Enhancers	HepG2	liver
17	chr18:30499800-30500000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr18:30499800-30501000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:30500000-30500200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:30500000-30502200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:30500000-30502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:30500000-30503200	Enhancers	NHEK	skin
23	chr18:30500200-30500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:30500200-30500800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr18:30500200-30501000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr18:30500200-30502000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr18:30500200-30502200	Enhancers	HMEC	breast
28	chr18:30500400-30502400	Weak transcription	Primary B cells from cord blood	blood
29	chr18:30500400-30504000	Enhancers	HSMM	muscle
30	chr18:30500600-30502200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr18:30500600-30502400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:30500600-30503800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr18:30500800-30501000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:30500800-30501000	Enhancers	NH-A	brain
35	chr18:30500800-30502200	Enhancers	Hela-S3	cervix
36	chr18:30500800-30502200	Enhancers	HUVEC	blood vessel
37	chr18:30500800-30503400	Enhancers	Osteobl	bone
38	chr18:30500800-30503600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr18:30500800-30503600	Enhancers	HSMMtube	muscle
40	chr18:30501000-30501200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr18:30501000-30501200	Flanking Active TSS	NHDF-Ad	bronchial
42	chr18:30501000-30501400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr18:30501000-30501400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:30501000-30501400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:30501000-30501400	Flanking Active TSS	NH-A	brain
46	chr18:30501000-30501600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:30501000-30502000	Enhancers	Dnd41	blood
48	chr18:30501000-30502200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:30501000-30502400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr18:30501200-30501400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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