Variant report

Variant	nsv1067510
Chromosome Location	chr18:14569386-14741638
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	chr18:14718749-14718858	HepG2	liver:	n/a	chr18:14718789-14718800
2	CEBPB	chr18:14685510-14685713	HepG2	liver:	n/a	chr18:14685573-14685584 chr18:14685548-14685559
3	CEBPB	chr18:14644967-14645161	K562	blood:	n/a	chr18:14645143-14645156 chr18:14645143-14645156 chr18:14645145-14645156 chr18:14645143-14645154
4	CEBPB	chr18:14593685-14593885	HepG2	liver:	n/a	n/a
5	CEBPB	chr18:14603135-14603294	HepG2	liver:	n/a	n/a
6	CEBPB	chr18:14648412-14648626	A549	lung:	n/a	n/a
7	CEBPB	chr18:14645127-14645253	HepG2	liver:	n/a	chr18:14645143-14645156 chr18:14645143-14645156 chr18:14645145-14645156 chr18:14645143-14645154
8	CEBPB	chr18:14685450-14685642	K562	blood:	n/a	chr18:14685573-14685584 chr18:14685548-14685559
9	CTCF	chr18:14638197-14638218	HepG2	liver:	n/a	n/a
10	CTCF	chr18:14670653-14670836	MCF-7	breast:	n/a	n/a
11	CTCF	chr18:14638093-14638293	MCF-7	breast:	n/a	n/a
12	CTCF	chr18:14659134-14659265	Pancreas_OC	pancreas:	n/a	n/a
13	CTCF	chr18:14699299-14699393	GM13977	blood:	n/a	n/a
14	CTCF	chr18:14616936-14616969	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr18:14720587-14720705	LNCaP	prostate:	n/a	n/a
16	CTCF	chr18:14577019-14577086	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr18:14646963-14647050	GM10266	blood:	n/a	n/a
18	CTCF	chr18:14642535-14642589	Lung_OC	lung:	n/a	n/a
19	CTCF	chr18:14604471-14604522	GM13976	blood:	n/a	n/a
20	CTCF	chr18:14638106-14638339	LNCaP	prostate:	n/a	n/a
21	CTCF	chr18:14584021-14584089	LNCaP	prostate:	n/a	n/a
22	CTCF	chr18:14590463-14590500	ProgFib	skin:	n/a	n/a
23	CTCF	chr18:14638097-14638364	LNCaP	prostate:	n/a	n/a
24	CTCF	chr18:14644095-14644136	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr18:14670684-14670810	Gliobla	brain:	n/a	n/a
26	CTCF	chr18:14603933-14604065	GM10248	blood:	n/a	n/a
27	CTCF	chr18:14613957-14613979	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr18:14618820-14618970	RPTEC	kidney:	n/a	n/a
29	CTCF	chr18:14639650-14639695	GM20000	blood:	n/a	n/a
30	CTCF	chr18:14672842-14672878	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr18:14671112-14671182	LNCaP	prostate:	n/a	n/a
32	CTCF	chr18:14613442-14613531	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr18:14618860-14619010	HEK293	kidney:	n/a	n/a
34	CTCF	chr18:14628380-14628530	HEK293	kidney:	n/a	n/a
35	CTCF	chr18:14618981-14619029	MCF-7	breast:	n/a	n/a
36	CTCF	chr18:14638132-14638261	Gliobla	brain:	n/a	n/a
37	CTCF	chr18:14590687-14590730	ProgFib	skin:	n/a	n/a
38	CTCF	chr18:14698916-14698942	Lung_OC	lung:	n/a	n/a
39	CTCF	chr18:14712926-14713067	GM13976	blood:	n/a	n/a
40	CTCF	chr18:14586158-14586166	GM10248	blood:	n/a	n/a
41	CTCF	chr18:14656713-14656819	Medullo	brain:	n/a	n/a
42	CTCF	chr18:14643650-14643746	MCF-7	breast:	n/a	n/a
43	CTCF	chr18:14628400-14628550	MCF-7	breast:	n/a	n/a
44	CTCF	chr18:14577579-14577637	LNCaP	prostate:	n/a	n/a
45	CTCF	chr18:14618961-14619033	MCF-7	breast:	n/a	n/a
46	CTCF	chr18:14670653-14670813	MCF-7	breast:	n/a	n/a
47	CTCF	chr18:14638054-14638356	MCF-7	breast:	n/a	n/a
48	CTCF	chr18:14618880-14619030	HEK293	kidney:	n/a	n/a
49	CTCF	chr18:14721507-14721538	Lung_OC	lung:	n/a	n/a
50	CTCF	chr18:14598988-14599029	Kidney_OC	kidney:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30B-8	chr18:14728271-14728513	NONHSAT058529
2	lnc-POTEC-7	chr18:14582085-14582201	l_1534_chr18:14567116-14601348_testes
3	lnc-POTEC-7	chr18:14601273-14601348	l_1534_chr18:14567116-14601348_testes

Variant related genes	Relation type
ANKRD30B	TF binding region
OR4K8P	TF binding region
OR4K7P	TF binding region
SNX19P3	TF binding region
GNPNAT1	miRNA target sites

Extended variants
information (count: 1418 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1418 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372024840	chr18:14582010-14582011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs566183039	chr18:14582018-14582019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs370970909	chr18:14582038-14582039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs535084505	chr18:14582046-14582047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141394249	chr18:14582052-14582053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs375053405	chr18:14582053-14582054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs56257910	chr18:14582068-14582069	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs9961795	chr18:14582075-14582076	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557646182	chr18:14582111-14582112	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs577418624	chr18:14582146-14582147	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs116920139	chr18:14582160-14582161	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs376642469	chr18:14582190-14582191	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs540260285	chr18:14582200-14582201	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs564693690	chr18:14582234-14582235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs145168279	chr18:14582290-14582291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs540754392	chr18:14582297-14582298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs560644829	chr18:14582305-14582306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529878919	chr18:14582311-14582312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs72885028	chr18:14582322-14582323	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563600285	chr18:14582326-14582327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs532337908	chr18:14582355-14582356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs369554944	chr18:14582357-14582358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532275034	chr18:14582400-14582401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs145249868	chr18:14582443-14582444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575469743	chr18:14582478-14582479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs552555495	chr18:14582483-14582484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs372997878	chr18:14582486-14582487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs367917255	chr18:14582515-14582516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs566111780	chr18:14582524-14582525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs543029930	chr18:14582552-14582553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs548743252	chr18:14582558-14582559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs193254362	chr18:14582566-14582567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376217666	chr18:14582582-14582583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs117644946	chr18:14582593-14582594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs73421096	chr18:14582597-14582598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs184547832	chr18:14582606-14582607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs116893086	chr18:14582646-14582647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs138786319	chr18:14582667-14582668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs140557492	chr18:14582710-14582711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs11080775	chr18:14582736-14582737	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs111710470	chr18:14582746-14582747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs186703853	chr18:14582748-14582749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs543622616	chr18:14582766-14582767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs80088365	chr18:14582825-14582826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532318133	chr18:14582827-14582828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs8095339	chr18:14582899-14582900	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs111972117	chr18:14582919-14582920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs528506308	chr18:14582923-14582924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs548559076	chr18:14582980-14582981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs540605032	chr18:14583163-14583164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14582000-14583000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:14582000-14583400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr18:14605800-14608400	Enhancers	Dnd41	blood
4	chr18:14606000-14606200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr18:14606000-14607600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr18:14606000-14607600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr18:14606200-14606800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr18:14606400-14607000	Enhancers	Primary T cells from cord blood	blood
9	chr18:14606800-14607200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr18:14606800-14607400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr18:14606800-14608400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr18:14607000-14607600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr18:14607000-14607800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr18:14607000-14607800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr18:14607000-14607800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr18:14607400-14610600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr18:14607600-14610600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr18:14607600-14610800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr18:14607600-14610800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr18:14607800-14608200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr18:14607800-14608200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr18:14607800-14608200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr18:14608200-14608400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr18:14608200-14608400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr18:14608200-14608400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr18:14608400-14610600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr18:14608400-14610600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr18:14608400-14610800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr18:14608400-14610800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr18:14608400-14610800	Weak transcription	Dnd41	blood
31	chr18:14610600-14611200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr18:14610600-14611200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr18:14610600-14612400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr18:14610600-14612600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr18:14610800-14611200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr18:14610800-14611200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr18:14610800-14611200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr18:14610800-14611400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr18:14610800-14611600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr18:14610800-14612000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr18:14610800-14614000	Enhancers	Dnd41	blood
42	chr18:14611200-14612400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr18:14611200-14613600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr18:14611200-14613600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr18:14611400-14613600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr18:14611600-14612000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr18:14612000-14612400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr18:14612000-14615800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr18:14612400-14612600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr18:14612400-14613400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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