Variant report

Variant	nsv961041
Chromosome Location	chr18:29991697-29993061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:29992971-29993048	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr18:29992245-29992263	Kidney_OC	kidney:	n/a	n/a
3	EP300	chr18:29992920-29993240	GM12878	blood:	n/a	n/a
4	FOSL2	chr18:29992927-29993239	HepG2	liver:	n/a	n/a
5	GATA2	chr18:29992827-29993103	K562	blood:	n/a	n/a
6	HEY1	chr18:29992881-29993249	HepG2	liver:	n/a	n/a
7	HEY1	chr18:29993004-29993213	HepG2	liver:	n/a	n/a
8	HEY1	chr18:29992847-29992972	HepG2	liver:	n/a	n/a
9	HEY1	chr18:29992834-29993257	K562	blood:	n/a	n/a
10	HEY1	chr18:29992820-29993330	K562	blood:	n/a	n/a
11	JUND	chr18:29993047-29993216	HepG2	liver:	n/a	n/a
12	POLR2A	chr18:29991475-29991800	GM12892	blood:	n/a	n/a
13	POLR2A	chr18:29992440-29992713	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr18:29992999-29993250	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr18:29992803-29993287	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr18:29992805-29993267	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr18:29992842-29993215	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr18:29991552-29991795	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr18:29992792-29993233	GM12878	blood:	n/a	n/a
20	POLR2A	chr18:29992810-29993283	GM12891	blood:	n/a	n/a
21	POLR2A	chr18:29991588-29991783	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr18:29992716-29993259	GM12891	blood:	n/a	n/a
23	POLR2A	chr18:29993003-29993281	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr18:29992423-29992722	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr18:29992821-29993239	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr18:29992778-29993249	GM12892	blood:	n/a	n/a
27	POLR2A	chr18:29992818-29993209	GM12878	blood:	n/a	n/a
28	POLR2A	chr18:29993060-29993215	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr18:29991552-29991759	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr18:29992922-29993246	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr18:29992782-29993235	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr18:29992413-29992735	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr18:29992841-29993260	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr18:29992898-29993483	U87	brain:	n/a	n/a
35	POLR2A	chr18:29992820-29993207	GM12878	blood:	n/a	n/a
36	POLR2A	chr18:29991574-29991804	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr18:29992946-29993234	HepG2	liver:	n/a	n/a
38	POLR2A	chr18:29992403-29993307	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr18:29991499-29991806	GM12878	blood:	n/a	n/a
40	POLR2A	chr18:29992792-29993271	GM12892	blood:	n/a	n/a
41	POLR2A	chr18:29992417-29992778	GM12878	blood:	n/a	n/a
42	POLR2A	chr18:29991577-29991842	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr18:29993041-29993207	HepG2	liver:	n/a	n/a
44	POLR2A	chr18:29992837-29993223	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr18:29992860-29993257	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr18:29992867-29992946	A549	lung:	n/a	n/a
47	POLR2A	chr18:29992789-29993286	GM12892	blood:	n/a	n/a
48	POLR2A	chr18:29992716-29993259	GM12892	blood:	n/a	n/a
49	POLR2A	chr18:29991489-29991804	GM12878	blood:	n/a	n/a
50	POLR2A	chr18:29992897-29993227	A549	lung:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MEP1B-2	chr18:29992145-29992634	ENSG00000249271
2	lnc-MEP1B-2	chr18:29992833-29993199	ENSG00000249271

No data

Variant related genes	Relation type
ENSG00000262477	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563673390	chr18:29991730-29991731	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs530932234	chr18:29991789-29991790	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs397842101	chr18:29991810-29991811	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs549260561	chr18:29991830-29991831	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs3980742	chr18:29991847-29991848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538687017	chr18:29991858-29991859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4104670	chr18:29991864-29991865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187616365	chr18:29991869-29991870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1135782	chr18:29991878-29991879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192546377	chr18:29991891-29991892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184187497	chr18:29991901-29991902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201546886	chr18:29991930-29991931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3980743	chr18:29991933-29991934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546754784	chr18:29991981-29991982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4104672	chr18:29992004-29992005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571366031	chr18:29992052-29992053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538696351	chr18:29992072-29992073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550406036	chr18:29992075-29992076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4104673	chr18:29992124-29992125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201964291	chr18:29992194-29992195	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs190240753	chr18:29992217-29992218	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs568472992	chr18:29992221-29992222	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs181852561	chr18:29992222-29992223	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs554190250	chr18:29992244-29992245	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs567596964	chr18:29992259-29992260	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs535019917	chr18:29992269-29992270	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs553498651	chr18:29992270-29992271	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs115725520	chr18:29992274-29992275	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs55754669	chr18:29992294-29992295	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs545438780	chr18:29992321-29992322	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs184799053	chr18:29992352-29992353	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs575850651	chr18:29992370-29992371	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs189662693	chr18:29992373-29992374	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs8085402	chr18:29992418-29992419	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528358147	chr18:29992421-29992422	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs146160742	chr18:29992434-29992435	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs565042445	chr18:29992454-29992455	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs148785344	chr18:29992467-29992468	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs180730925	chr18:29992474-29992475	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs369978183	chr18:29992480-29992481	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs372595267	chr18:29992483-29992484	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs374757128	chr18:29992496-29992497	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs190843430	chr18:29992509-29992510	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs547768759	chr18:29992523-29992524	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs566147141	chr18:29992524-29992525	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs535299472	chr18:29992547-29992548	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs201368272	chr18:29992576-29992577	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs553395869	chr18:29992624-29992625	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs571772925	chr18:29992637-29992638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201868557	chr18:29992655-29992656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29963600-29999200	Weak transcription	Fetal Kidney	kidney
2	chr18:29982000-30005400	Weak transcription	Stomach Mucosa	stomach
3	chr18:29985400-29995200	Weak transcription	Pancreas	Pancrea
4	chr18:29987400-29999800	Weak transcription	Brain Angular Gyrus	brain
5	chr18:29987800-29995600	Weak transcription	Brain Hippocampus Middle	brain
6	chr18:29987800-29998200	Weak transcription	Left Ventricle	heart
7	chr18:29988600-29995400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr18:29988800-29995200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr18:29990000-29999400	Weak transcription	Fetal Heart	heart

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