Variant report

Variant	nsv437822
Chromosome Location	chr18:14938839-14947953
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	chr18:14944300-14944450	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
3	CTCF	chr18:14944314-14944380	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr18:14944269-14944466	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
5	CTCF	chr18:14943707-14943739	Fibrobl	skin:	n/a	n/a
6	CTCF	chr18:14944252-14944456	MCF-7	breast:	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	chr18:14944366-14944416	Gliobla	brain:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
9	CTCF	chr18:14944200-14944350	HepG2	liver:	n/a	n/a
10	CTCF	chr18:14944340-14944490	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
11	CTCF	chr18:14941393-14941483	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr18:14944335-14944416	SK-N-SH_RA	brain:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
13	CTCF	chr18:14944300-14944450	HEK293	kidney:	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	chr18:14944263-14944463	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
16	CTCF	chr18:14944300-14944450	SK-N-SH_RA	brain:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
17	CTCF	chr18:14944295-14944435	SK-N-SH_RA	brain:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
18	CTCF	chr18:14944302-14944575	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
19	E2F4	chr18:14942849-14943049	MCF10A-Er-Src	breast:	n/a	n/a
20	GATA3	chr18:14946471-14946881	MCF-7	breast:	n/a	chr18:14946568-14946575
21	MAX	chr18:14945959-14946252	SK-N-SH	brain:	n/a	n/a
22	MAX	chr18:14945965-14946259	SK-N-SH	brain:	n/a	n/a
23	MYC	chr18:14944200-14944322	MCF-7	breast:	n/a	n/a
24	MYC	chr18:14946310-14946357	K562	blood:	n/a	n/a
25	MYC	chr18:14944191-14944196	MCF-7	breast:	n/a	n/a
26	POLR2A	chr18:14941519-14941587	GM12878	blood:	n/a	n/a
27	POLR2A	chr18:14947876-14948080	U87	brain:	n/a	n/a
28	POLR2A	chr18:14947876-14948091	U87	brain:	n/a	n/a
29	RAD21	chr18:14944273-14944538	SK-N-SH_RA	brain:	n/a	chr18:14944373-14944392
30	RAD21	chr18:14944239-14944466	SK-N-SH_RA	brain:	n/a	chr18:14944373-14944392
31	RAD21	chr18:14944305-14944509	MCF-7	breast:	n/a	chr18:14944373-14944392
32	USF1	chr18:14946080-14946236	SK-N-SH_RA	brain:	n/a	n/a
33	USF1	chr18:14946002-14946316	SK-N-SH_RA	brain:	n/a	n/a
34	USF1	chr18:14945994-14946240	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:14940976..14942480-chr18:14946479..14948653,2	MCF-7	breast:
2	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: 363 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs786038	chr18:14938839-14938840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149233507	chr18:14938844-14938845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568297118	chr18:14938849-14938850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147353088	chr18:14938860-14938861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555807251	chr18:14938899-14938900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576078092	chr18:14938912-14938913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371372729	chr18:14938913-14938914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs137982873	chr18:14938918-14938919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185428928	chr18:14939001-14939002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191773853	chr18:14939009-14939010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183577367	chr18:14939012-14939013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561195369	chr18:14939031-14939032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574668990	chr18:14939033-14939034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143539605	chr18:14939055-14939056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187348603	chr18:14939115-14939116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147294562	chr18:14939137-14939138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373841771	chr18:14939142-14939143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552501797	chr18:14939174-14939175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376839244	chr18:14939179-14939180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192347215	chr18:14939259-14939260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562480252	chr18:14939267-14939268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371137452	chr18:14939307-14939308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548459864	chr18:14939322-14939323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs786037	chr18:14939329-14939330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537220751	chr18:14939386-14939387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550898017	chr18:14939390-14939391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569694422	chr18:14939392-14939393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs786036	chr18:14939393-14939394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558665818	chr18:14939394-14939395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142452687	chr18:14939396-14939397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566480981	chr18:14939398-14939399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139412241	chr18:14939487-14939488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554868036	chr18:14939549-14939550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561494682	chr18:14939624-14939625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543593208	chr18:14939696-14939697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183278033	chr18:14939698-14939699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577016485	chr18:14939700-14939701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545961944	chr18:14939727-14939728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559834299	chr18:14939773-14939774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528437595	chr18:14939835-14939836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548200553	chr18:14939939-14939940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs786035	chr18:14939956-14939957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148260023	chr18:14940022-14940023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112727591	chr18:14940024-14940025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141460426	chr18:14940073-14940074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570952091	chr18:14940110-14940111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540051714	chr18:14940140-14940141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551969122	chr18:14940152-14940153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186798480	chr18:14940155-14940156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534568923	chr18:14940170-14940171	Enhancers Weak transcription	n/a	n/a	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	chr18:14934600-14940000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:14936400-14941600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr18:14937200-14941200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr18:14937200-14941600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr18:14937200-14941800	Weak transcription	Colonic Mucosa	Colon
6	chr18:14937800-14941200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr18:14940000-14940200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:14940200-14941200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr18:14941200-14941600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:14941200-14942200	Enhancers	Duodenum Mucosa	Duodenum
11	chr18:14941200-14942600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr18:14941600-14942400	Enhancers	Fetal Intestine Large	intestine
13	chr18:14941600-14942600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr18:14941600-14943400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr18:14941800-14942600	Enhancers	Colonic Mucosa	Colon
16	chr18:14942200-14946000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr18:14942600-14946800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr18:14943400-14946600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr18:14943600-14944000	Enhancers	Osteobl	bone
20	chr18:14946000-14947200	Enhancers	Duodenum Mucosa	Duodenum
21	chr18:14946200-14947000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:14946600-14946800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr18:14946800-14947200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr18:14946800-14947400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr18:14947000-14947800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr18:14947000-14948000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr18:14947200-14953200	Weak transcription	Rectal Mucosa Donor 31	rectum

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