Variant report

Variant	esv1816769
Chromosome Location	chr18:30486596-30518855
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:16)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:30479533..30480412-chr18:30499540..30500172,2	MCF-7	breast:
2	chr18:30293724..30294417-chr18:30499835..30500382,2	MCF-7	breast:
3	chr18:30155970..30156491-chr18:30499440..30500054,2	MCF-7	breast:
4	chr18:30492890..30494424-chr18:30498589..30500639,2	MCF-7	breast:
5	chr18:30492890..30494424-chr18:30498589..30500639,2	MCF-7	breast:
6	chr18:30487680..30490056-chr18:30492113..30494145,2	K562	blood:
7	chr18:30487680..30490056-chr18:30492113..30494145,2	K562	blood:
8	chr18:30294270..30295293-chr18:30499582..30500548,5	MCF-7	breast:
9	chr18:30505715..30508318-chr18:30511122..30512749,2	MCF-7	breast:
10	chr18:30482192..30483831-chr18:30485480..30487269,2	K562	blood:
11	chr18:30505715..30508318-chr18:30511122..30512749,2	MCF-7	breast:
12	chr18:30517553..30519382-chr18:30521482..30523955,2	MCF-7	breast:
13	chr18:30492146..30494495-chr18:30497517..30499760,2	K562	blood:
14	chr18:30294450..30295198-chr18:30499539..30500758,7	MCF-7	breast:
15	chr18:30492146..30494495-chr18:30497517..30499760,2	K562	blood:
16	chr18:30479602..30480672-chr18:30499517..30500435,5	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC012123.1.1-1	chr18:30492797-30492928	ENSG00000263765.1
2	lnc-AC012123.1.1-1	chr18:30492797-30492821	NONHSAT058872
3	lnc-AC012123.1.1-1	chr18:30492858-30492929	NONHSAT058876
4	lnc-AC012123.1.1-1	chr18:30517950-30518280	ENSG00000263765.1

No data

Extended variants
information (count: 920 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:920 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34031354	chr18:30486596-30486597	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs369021835	chr18:30486607-30486608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370612745	chr18:30486610-30486611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79829186	chr18:30486614-30486615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538253019	chr18:30486629-30486630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78577566	chr18:30486663-30486664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146432344	chr18:30486674-30486675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75186797	chr18:30486709-30486710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528099852	chr18:30486712-30486713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546222569	chr18:30486768-30486769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373482277	chr18:30486802-30486803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11081789	chr18:30486809-30486810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191788973	chr18:30486821-30486822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144082770	chr18:30486851-30486852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184171054	chr18:30486853-30486854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116421446	chr18:30486879-30486880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537678851	chr18:30486900-30486901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537604273	chr18:30486907-30486908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189397916	chr18:30486919-30486920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574146386	chr18:30486979-30486980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535107873	chr18:30486985-30486986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568829184	chr18:30486989-30486990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553432471	chr18:30486996-30486997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180984398	chr18:30487005-30487006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545362256	chr18:30487009-30487010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563561328	chr18:30487024-30487025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28691632	chr18:30487059-30487060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28398144	chr18:30487061-30487062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369700870	chr18:30487077-30487078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572987773	chr18:30487079-30487080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560837698	chr18:30487095-30487096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528197903	chr18:30487097-30487098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546283922	chr18:30487112-30487113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368774774	chr18:30487138-30487139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185676743	chr18:30487142-30487143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553236395	chr18:30487169-30487170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533851639	chr18:30487193-30487194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190558014	chr18:30487224-30487225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531026424	chr18:30487235-30487236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181405460	chr18:30487249-30487250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567839479	chr18:30487304-30487305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577921857	chr18:30487318-30487319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553495492	chr18:30487329-30487330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571680354	chr18:30487342-30487343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545427144	chr18:30487352-30487353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538979267	chr18:30487360-30487361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34896964	chr18:30487370-30487371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185885315	chr18:30487390-30487391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141494753	chr18:30487408-30487409	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs542533778	chr18:30487543-30487544	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30483200-30486600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr18:30485400-30487600	Enhancers	Fetal Brain Male	brain
3	chr18:30485600-30489200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr18:30485800-30486800	Weak transcription	Ovary	ovary
5	chr18:30485800-30489800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:30486000-30486800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:30486000-30487000	Enhancers	HMEC	breast
8	chr18:30486200-30487200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:30486400-30486600	Bivalent Enhancer	HepG2	liver
10	chr18:30486600-30487000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr18:30486600-30487000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr18:30486600-30487000	Enhancers	Adipose Nuclei	Adipose
13	chr18:30486600-30488000	Enhancers	Primary B cells from peripheral blood	blood
14	chr18:30486800-30487000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:30486800-30487000	Enhancers	Ovary	ovary
16	chr18:30486800-30487400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr18:30487000-30487600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:30487000-30487800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:30487000-30490400	Weak transcription	HMEC	breast
20	chr18:30487200-30487600	Enhancers	Brain Hippocampus Middle	brain
21	chr18:30487200-30490400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr18:30487400-30487600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:30487400-30487600	Enhancers	Primary B cells from cord blood	blood
24	chr18:30487400-30487800	Enhancers	HepG2	liver
25	chr18:30487400-30488000	Enhancers	Brain Cingulate Gyrus	brain
26	chr18:30487400-30489800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr18:30487600-30487800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:30487600-30487800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:30487600-30488000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr18:30487600-30488400	Weak transcription	Primary B cells from cord blood	blood
31	chr18:30487800-30489800	Weak transcription	HepG2	liver
32	chr18:30487800-30490800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:30487800-30490800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr18:30488000-30488400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr18:30488400-30488600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:30488400-30491200	Enhancers	Primary B cells from peripheral blood	blood
37	chr18:30488400-30492200	Enhancers	Primary B cells from cord blood	blood
38	chr18:30489200-30489600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:30489400-30491800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:30489600-30491000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr18:30489800-30490000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr18:30489800-30490600	Enhancers	NH-A	brain
43	chr18:30489800-30490800	Enhancers	HepG2	liver
44	chr18:30489800-30491000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr18:30490000-30490400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr18:30490200-30491000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr18:30490200-30491200	Enhancers	Fetal Muscle Leg	muscle
48	chr18:30490200-30492200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr18:30490400-30491200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr18:30490400-30491600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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