Variant report

Variant	nsv526858
Chromosome Location	chr18:14940293-14954303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr18:14946395-14946563	HepG2	liver:	n/a	chr18:14946440-14946451
2	CTCF	chr18:14944340-14944490	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
3	CTCF	chr18:14944335-14944416	SK-N-SH_RA	brain:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
4	CTCF	chr18:14944200-14944350	HepG2	liver:	n/a	n/a
5	CTCF	chr18:14944269-14944466	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
6	CTCF	chr18:14944366-14944416	Gliobla	brain:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
7	CTCF	chr18:14944270-14944480	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
8	CTCF	chr18:14944295-14944435	SK-N-SH_RA	brain:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
9	CTCF	chr18:14944300-14944450	HEK293	kidney:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
10	CTCF	chr18:14944314-14944380	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr18:14944263-14944463	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
12	CTCF	chr18:14944252-14944456	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
13	CTCF	chr18:14944302-14944575	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
14	CTCF	chr18:14944273-14944464	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
15	CTCF	chr18:14943707-14943739	Fibrobl	skin:	n/a	n/a
16	CTCF	chr18:14944300-14944450	SK-N-SH_RA	brain:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
17	CTCF	chr18:14941393-14941483	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr18:14944300-14944450	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
19	CUX1	chr18:14950251-14950319	K562	blood:	n/a	n/a
20	E2F4	chr18:14942849-14943049	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr18:14951546-14951693	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr18:14951447-14951698	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr18:14951486-14951709	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr18:14951432-14951727	MCF10A-Er-Src	breast:	n/a	n/a
25	GATA3	chr18:14946471-14946881	MCF-7	breast:	n/a	chr18:14946568-14946575
26	IRF3	chr18:14952695-14952841	GM12878	blood:	n/a	n/a
27	KAP1	chr18:14949576-14950513	HEK293	kidney:	n/a	chr18:14950193-14950201
28	MAX	chr18:14945959-14946252	SK-N-SH	brain:	n/a	n/a
29	MAX	chr18:14945965-14946259	SK-N-SH	brain:	n/a	n/a
30	MYC	chr18:14944200-14944322	MCF-7	breast:	n/a	n/a
31	MYC	chr18:14944191-14944196	MCF-7	breast:	n/a	n/a
32	MYC	chr18:14946310-14946357	K562	blood:	n/a	n/a
33	POLR2A	chr18:14954044-14954383	U87	brain:	n/a	n/a
34	POLR2A	chr18:14941519-14941587	GM12878	blood:	n/a	n/a
35	POLR2A	chr18:14951039-14951378	U87	brain:	n/a	n/a
36	POLR2A	chr18:14947876-14948091	U87	brain:	n/a	n/a
37	POLR2A	chr18:14951664-14952017	U87	brain:	n/a	n/a
38	POLR2A	chr18:14947876-14948080	U87	brain:	n/a	n/a
39	POLR2A	chr18:14953566-14953943	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr18:14952699-14952735	ProgFib	skin:	n/a	n/a
41	POLR2A	chr18:14954149-14954372	U87	brain:	n/a	n/a
42	POLR2A	chr18:14952698-14953089	U87	brain:	n/a	n/a
43	RAD21	chr18:14944305-14944509	MCF-7	breast:	n/a	chr18:14944373-14944392
44	RAD21	chr18:14944239-14944466	SK-N-SH_RA	brain:	n/a	chr18:14944373-14944392
45	RAD21	chr18:14944273-14944538	SK-N-SH_RA	brain:	n/a	chr18:14944373-14944392
46	USF1	chr18:14945994-14946240	SK-N-SH	brain:	n/a	n/a
47	USF1	chr18:14946002-14946316	SK-N-SH_RA	brain:	n/a	n/a
48	USF1	chr18:14946080-14946236	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:14940976..14942480-chr18:14946479..14948653,2	MCF-7	breast:
2	chr18:14952155..14952955-chr7:115149293..115150054,2	MCF-7	breast:
3	chr18:14940976..14942480-chr18:14946479..14948653,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30B-4	chr18:14946266-14946327	NR_104164
2	lnc-ANKRD30B-4	chr18:14946266-14946327	ENSG00000266554.1

Variant related genes	Relation type
ENSG00000266554	TF binding region

Extended variants
information (count: 517 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs786034	chr18:14940293-14940294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576950204	chr18:14940296-14940297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545997691	chr18:14940324-14940325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112292641	chr18:14940327-14940328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534566668	chr18:14940334-14940335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553166730	chr18:14940365-14940366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537677429	chr18:14940381-14940382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367639546	chr18:14940407-14940408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573005016	chr18:14940409-14940410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146921898	chr18:14940454-14940455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs137941059	chr18:14940466-14940467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530859335	chr18:14940485-14940486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62087283	chr18:14940573-14940574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191400258	chr18:14940577-14940578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564834954	chr18:14940628-14940629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533330525	chr18:14940652-14940653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs786033	chr18:14940660-14940661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565731014	chr18:14940688-14940689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528201903	chr18:14940689-14940690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548344278	chr18:14940703-14940704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs786032	chr18:14940704-14940705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537086421	chr18:14940705-14940706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs786031	chr18:14940733-14940734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570748306	chr18:14940743-14940744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182848173	chr18:14940787-14940788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539211686	chr18:14940829-14940830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552758904	chr18:14940856-14940857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143500044	chr18:14940875-14940876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541918629	chr18:14940884-14940885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs8082961	chr18:14940918-14940919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372283783	chr18:14940927-14940928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544609454	chr18:14940943-14940944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564596161	chr18:14940971-14940972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7241778	chr18:14940981-14940982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540429016	chr18:14940990-14940991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572111890	chr18:14941013-14941014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529557712	chr18:14941021-14941022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548293532	chr18:14941023-14941024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370509801	chr18:14941043-14941044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188188362	chr18:14941075-14941076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375325222	chr18:14941108-14941109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35096898	chr18:14941163-14941164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546061918	chr18:14941176-14941177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369072767	chr18:14941182-14941183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530400893	chr18:14941219-14941220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550556515	chr18:14941235-14941236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570614763	chr18:14941255-14941256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12961910	chr18:14941380-14941381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72875645	chr18:14941418-14941419	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs12962033	chr18:14941422-14941423	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Melanoma	18172304	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
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14936400-14941600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:14937200-14941200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr18:14937200-14941600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr18:14937200-14941800	Weak transcription	Colonic Mucosa	Colon
5	chr18:14937800-14941200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr18:14940200-14941200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:14941200-14941600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:14941200-14942200	Enhancers	Duodenum Mucosa	Duodenum
9	chr18:14941200-14942600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr18:14941600-14942400	Enhancers	Fetal Intestine Large	intestine
11	chr18:14941600-14942600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr18:14941600-14943400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr18:14941800-14942600	Enhancers	Colonic Mucosa	Colon
14	chr18:14942200-14946000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr18:14942600-14946800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr18:14943400-14946600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr18:14943600-14944000	Enhancers	Osteobl	bone
18	chr18:14946000-14947200	Enhancers	Duodenum Mucosa	Duodenum
19	chr18:14946200-14947000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr18:14946600-14946800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr18:14946800-14947200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr18:14946800-14947400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr18:14947000-14947800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr18:14947000-14948000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr18:14947200-14953200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr18:14950000-14950400	Enhancers	Spleen	Spleen
27	chr18:14953200-14953600	Enhancers	Rectal Mucosa Donor 31	rectum

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