Variant report

Variant	esv2763185
Chromosome Location	chr18:36032966-36063865
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	chr18:36024486..36027466-chr18:36034996..36037328,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CELF4-1	chr18:36046480-36046972	XLOC_012819
2	lnc-CELF4-1	chr18:36052468-36052660	XLOC_012819

Extended variants
information (count: 635 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543143760	chr18:36033002-36033003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556455303	chr18:36033007-36033008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576591684	chr18:36033081-36033082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542116204	chr18:36033095-36033096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376488661	chr18:36033161-36033162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186860122	chr18:36033270-36033271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143728159	chr18:36033281-36033282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564507561	chr18:36033342-36033343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368232726	chr18:36033382-36033383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372466871	chr18:36033384-36033385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375666249	chr18:36033386-36033387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376635010	chr18:36033387-36033388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533442068	chr18:36033390-36033391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529276124	chr18:36033420-36033421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140699464	chr18:36033422-36033423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114453482	chr18:36033444-36033445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549300140	chr18:36033453-36033454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573917870	chr18:36033454-36033455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369441089	chr18:36033474-36033475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529090661	chr18:36033523-36033524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12962949	chr18:36033537-36033538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191692653	chr18:36033559-36033560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112206676	chr18:36033571-36033572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546628431	chr18:36033577-36033578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs8092064	chr18:36033588-36033589	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536716884	chr18:36033594-36033595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183314699	chr18:36033596-36033597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16970229	chr18:36033623-36033624	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149780039	chr18:36033634-36033635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374753035	chr18:36033635-36033636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146332467	chr18:36033671-36033672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148519338	chr18:36033679-36033680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117853218	chr18:36033707-36033708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541772442	chr18:36033723-36033724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564444845	chr18:36033724-36033725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142809342	chr18:36033725-36033726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557471215	chr18:36033853-36033854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188712674	chr18:36033932-36033933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34555331	chr18:36033939-36033940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77818250	chr18:36033955-36033956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16970234	chr18:36033972-36033973	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559152193	chr18:36033973-36033974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528342938	chr18:36033992-36033993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192967898	chr18:36034010-36034011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530475365	chr18:36034042-36034043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371800708	chr18:36034046-36034047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185589234	chr18:36034071-36034072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537051756	chr18:36034076-36034077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550348967	chr18:36034228-36034229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567342467	chr18:36034242-36034243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:36031200-36039200	Weak transcription	Dnd41	blood
2	chr18:36032800-36033000	Enhancers	Fetal Heart	heart
3	chr18:36032800-36034000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:36032800-36036200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:36033000-36038200	Weak transcription	Fetal Heart	heart
6	chr18:36034000-36034400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:36034400-36035200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:36035200-36036600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:36036600-36036800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr18:36038000-36039800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:36038200-36039000	Enhancers	Brain Cingulate Gyrus	brain
12	chr18:36038200-36041200	Enhancers	Fetal Heart	heart
13	chr18:36038600-36039000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr18:36038600-36039600	Enhancers	Fetal Brain Male	brain
15	chr18:36038800-36039200	Enhancers	Brain Hippocampus Middle	brain
16	chr18:36038800-36039400	Enhancers	Fetal Muscle Leg	muscle
17	chr18:36039000-36039400	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr18:36039200-36039400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:36039200-36039400	Enhancers	Brain Angular Gyrus	brain
20	chr18:36039200-36039400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr18:36039200-36039400	Enhancers	Dnd41	blood
22	chr18:36039200-36039600	Enhancers	Fetal Brain Female	brain
23	chr18:36039200-36039800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:36039200-36039800	Enhancers	Brain Germinal Matrix	brain
25	chr18:36039400-36039800	Enhancers	Brain Cingulate Gyrus	brain
26	chr18:36048800-36049200	Enhancers	Fetal Heart	heart
27	chr18:36049000-36049400	Enhancers	Pancreas	Pancrea
28	chr18:36059000-36060600	ZNF genes & repeats	Dnd41	blood
29	chr18:36059600-36060000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr18:36060000-36060200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr18:36060200-36064000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:36060200-36064000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:36060600-36061000	Enhancers	Dnd41	blood
34	chr18:36061000-36061200	Flanking Active TSS	Dnd41	blood
35	chr18:36061200-36061400	Enhancers	Dnd41	blood
36	chr18:36061400-36061600	Flanking Active TSS	Dnd41	blood
37	chr18:36061400-36062600	Enhancers	Brain Substantia Nigra	brain
38	chr18:36061400-36062800	Enhancers	Brain Anterior Caudate	brain
39	chr18:36061600-36062000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr18:36061600-36062400	Enhancers	Brain Hippocampus Middle	brain
41	chr18:36061600-36063200	Enhancers	Brain Germinal Matrix	brain
42	chr18:36061600-36064600	Enhancers	Dnd41	blood
43	chr18:36062000-36062400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr18:36062200-36063000	Enhancers	Brain Cingulate Gyrus	brain

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