Variant report

Variant	nsv978612
Chromosome Location	chr18:14605814-14665769
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	chr18:14648412-14648626	A549	lung:	n/a	n/a
2	CEBPB	chr18:14644967-14645161	K562	blood:	n/a	chr18:14645143-14645156 chr18:14645143-14645156 chr18:14645145-14645156 chr18:14645143-14645154
3	CEBPB	chr18:14645127-14645253	HepG2	liver:	n/a	chr18:14645143-14645156 chr18:14645143-14645156 chr18:14645145-14645156 chr18:14645143-14645154
4	CTCF	chr18:14638132-14638261	Gliobla	brain:	n/a	n/a
5	CTCF	chr18:14613442-14613531	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr18:14645720-14645814	Medullo	brain:	n/a	n/a
7	CTCF	chr18:14638140-14638275	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chr18:14628380-14628530	HEK293	kidney:	n/a	n/a
9	CTCF	chr18:14638106-14638339	LNCaP	prostate:	n/a	n/a
10	CTCF	chr18:14638185-14638298	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr18:14618961-14619033	MCF-7	breast:	n/a	n/a
12	CTCF	chr18:14618880-14619030	HEK293	kidney:	n/a	n/a
13	CTCF	chr18:14638113-14638299	ProgFib	skin:	n/a	n/a
14	CTCF	chr18:14655540-14655588	Lung_OC	lung:	n/a	n/a
15	CTCF	chr18:14618981-14618997	K562	blood:	n/a	n/a
16	CTCF	chr18:14642535-14642589	Lung_OC	lung:	n/a	n/a
17	CTCF	chr18:14639650-14639695	GM20000	blood:	n/a	n/a
18	CTCF	chr18:14638097-14638364	LNCaP	prostate:	n/a	n/a
19	CTCF	chr18:14638260-14638410	MCF-7	breast:	n/a	n/a
20	CTCF	chr18:14646963-14647050	GM10266	blood:	n/a	n/a
21	CTCF	chr18:14638105-14638249	A549	lung:	n/a	n/a
22	CTCF	chr18:14618920-14619070	RPTEC	kidney:	n/a	n/a
23	CTCF	chr18:14651463-14651501	Lung_OC	lung:	n/a	n/a
24	CTCF	chr18:14616936-14616969	Pancreas_OC	pancreas:	n/a	n/a
25	CTCF	chr18:14618860-14619010	HEK293	kidney:	n/a	n/a
26	CTCF	chr18:14644095-14644136	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr18:14618923-14618981	LNCaP	prostate:	n/a	n/a
28	CTCF	chr18:14656713-14656819	Medullo	brain:	n/a	n/a
29	CTCF	chr18:14618984-14619019	A549	lung:	n/a	n/a
30	CTCF	chr18:14638092-14638275	MCF-7	breast:	n/a	n/a
31	CTCF	chr18:14638054-14638356	MCF-7	breast:	n/a	n/a
32	CTCF	chr18:14613957-14613979	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr18:14635221-14635301	GM13976	blood:	n/a	n/a
34	CTCF	chr18:14643650-14643746	MCF-7	breast:	n/a	n/a
35	CTCF	chr18:14643680-14643706	MCF-7	breast:	n/a	n/a
36	CTCF	chr18:14638837-14638907	GM20000	blood:	n/a	n/a
37	CTCF	chr18:14663543-14663637	GM10266	blood:	n/a	n/a
38	CTCF	chr18:14643674-14643720	MCF-7	breast:	n/a	n/a
39	CTCF	chr18:14638141-14638324	K562	blood:	n/a	n/a
40	CTCF	chr18:14628400-14628550	MCF-7	breast:	n/a	n/a
41	CTCF	chr18:14639309-14639344	GM13976	blood:	n/a	n/a
42	CTCF	chr18:14631979-14632033	GM13976	blood:	n/a	n/a
43	CTCF	chr18:14638093-14638293	MCF-7	breast:	n/a	n/a
44	CTCF	chr18:14657529-14657584	Medullo	brain:	n/a	n/a
45	CTCF	chr18:14638197-14638218	HepG2	liver:	n/a	n/a
46	CTCF	chr18:14615203-14615244	GM13977	blood:	n/a	n/a
47	CTCF	chr18:14626694-14626744	GM13976	blood:	n/a	n/a
48	CTCF	chr18:14645192-14645300	Lung_OC	lung:	n/a	n/a
49	CTCF	chr18:14618947-14619057	Gliobla	brain:	n/a	n/a
50	CTCF	chr18:14638085-14638320	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:14629664..14632607-chr21:14899242..14900976,2	MCF-7	breast:

Variant related genes	Relation type
OR4K8P	TF binding region
SNX19P3	TF binding region

Extended variants
information (count: 1270 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1270 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564160628	chr18:14605853-14605854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7231885	chr18:14605869-14605870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540006952	chr18:14605895-14605896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192652645	chr18:14605923-14605924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530609935	chr18:14605952-14605953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529181085	chr18:14605985-14605986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370442232	chr18:14605995-14605996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12958416	chr18:14606029-14606030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548864218	chr18:14606084-14606085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568951627	chr18:14606086-14606087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531691527	chr18:14606113-14606114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551587618	chr18:14606121-14606122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12959387	chr18:14606137-14606138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545389001	chr18:14606228-14606229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34140881	chr18:14606335-14606336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143896109	chr18:14606342-14606343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182463965	chr18:14606357-14606358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536985239	chr18:14606358-14606359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556853055	chr18:14606418-14606419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565274434	chr18:14606428-14606429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61587837	chr18:14606461-14606462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148503726	chr18:14606465-14606466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544164667	chr18:14606511-14606512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557580352	chr18:14606529-14606530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532561165	chr18:14606547-14606548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56834341	chr18:14606559-14606560	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371175937	chr18:14606563-14606564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559964085	chr18:14606592-14606593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569394935	chr18:14606622-14606623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34213982	chr18:14606629-14606630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6505921	chr18:14606687-14606688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542522761	chr18:14606708-14606709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562757062	chr18:14606731-14606732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531630163	chr18:14606771-14606772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551719253	chr18:14606783-14606784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560821318	chr18:14606795-14606796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565112723	chr18:14606846-14606847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527833150	chr18:14606878-14606879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547901354	chr18:14606879-14606880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188330595	chr18:14606937-14606938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142210109	chr18:14606950-14606951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550515210	chr18:14606983-14606984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150163375	chr18:14607027-14607028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12963558	chr18:14607028-14607029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538945228	chr18:14607032-14607033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557766078	chr18:14607040-14607041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577564387	chr18:14607047-14607048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148909448	chr18:14607048-14607049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35868277	chr18:14607092-14607093	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs137887245	chr18:14607104-14607105	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14605800-14608400	Enhancers	Dnd41	blood
2	chr18:14606000-14606200	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr18:14606000-14607600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr18:14606000-14607600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr18:14606200-14606800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr18:14606400-14607000	Enhancers	Primary T cells from cord blood	blood
7	chr18:14606800-14607200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr18:14606800-14607400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr18:14606800-14608400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr18:14607000-14607600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr18:14607000-14607800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr18:14607000-14607800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr18:14607000-14607800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr18:14607400-14610600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr18:14607600-14610600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr18:14607600-14610800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr18:14607600-14610800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr18:14607800-14608200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr18:14607800-14608200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr18:14607800-14608200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr18:14608200-14608400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:14608200-14608400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr18:14608200-14608400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr18:14608400-14610600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr18:14608400-14610600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr18:14608400-14610800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr18:14608400-14610800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr18:14608400-14610800	Weak transcription	Dnd41	blood
29	chr18:14610600-14611200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr18:14610600-14611200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr18:14610600-14612400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr18:14610600-14612600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr18:14610800-14611200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr18:14610800-14611200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr18:14610800-14611200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr18:14610800-14611400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr18:14610800-14611600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr18:14610800-14612000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr18:14610800-14614000	Enhancers	Dnd41	blood
40	chr18:14611200-14612400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr18:14611200-14613600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr18:14611200-14613600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr18:14611400-14613600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr18:14611600-14612000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr18:14612000-14612400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr18:14612000-14615800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr18:14612400-14612600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr18:14612400-14613400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr18:14612400-14613600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr18:14612600-14613800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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