Variant report

Variant	nsv1064869
Chromosome Location	chr18:7730116-7760969
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	ARID3A	chr18:7755669-7756066	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:7754639-7755251	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:7749782-7750123	HepG2	liver:	n/a	n/a
4	BHLHE40	chr18:7753528-7753535	GM12878	blood:	n/a	n/a
5	CEBPB	chr18:7755758-7756128	MCF-7	breast:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
6	CEBPB	chr18:7755740-7756370	HepG2	liver:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
7	CEBPB	chr18:7755791-7756068	A549	lung:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
8	CEBPB	chr18:7757245-7757538	IMR90	lung:	n/a	chr18:7757399-7757410
9	CEBPB	chr18:7743286-7743615	A549	lung:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
10	CEBPB	chr18:7757160-7757659	A549	lung:	n/a	chr18:7757399-7757410
11	CEBPB	chr18:7751013-7751174	HepG2	liver:	n/a	n/a
12	CEBPB	chr18:7739664-7739958	K562	blood:	n/a	n/a
13	CEBPB	chr18:7750692-7751262	HepG2	liver:	n/a	chr18:7750816-7750833
14	CEBPB	chr18:7755844-7756009	HepG2	liver:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
15	CEBPB	chr18:7757249-7757585	A549	lung:	n/a	chr18:7757399-7757410
16	CEBPB	chr18:7749687-7750078	HepG2	liver:	n/a	n/a
17	CEBPB	chr18:7755768-7756016	MCF-7	breast:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
18	CEBPB	chr18:7754658-7755189	HepG2	liver:	n/a	n/a
19	CEBPB	chr18:7739650-7739958	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr18:7755730-7756076	HepG2	liver:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
21	CEBPB	chr18:7757346-7757484	HepG2	liver:	n/a	chr18:7757399-7757410
22	CEBPB	chr18:7755734-7756078	A549	lung:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
23	CEBPB	chr18:7754719-7755107	HepG2	liver:	n/a	n/a
24	CEBPB	chr18:7755866-7756067	H1-hESC	embryonic stem cell:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
25	CEBPB	chr18:7755770-7756057	K562	blood:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
26	CEBPB	chr18:7743291-7743630	HepG2	liver:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
27	CEBPB	chr18:7743284-7743614	IMR90	lung:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
28	CEBPB	chr18:7755769-7756053	Hela-S3	cervix:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
29	CEBPB	chr18:7739658-7739936	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr18:7755658-7756217	A549	lung:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
31	CEBPB	chr18:7755754-7756077	HepG2	liver:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
32	CEBPB	chr18:7743291-7743549	Hela-S3	cervix:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
33	CEBPB	chr18:7743361-7743507	H1-hESC	embryonic stem cell:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
34	CEBPB	chr18:7755757-7756106	IMR90	lung:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
35	CEBPD	chr18:7754686-7755097	HepG2	liver:	n/a	n/a
36	CREB1	chr18:7754719-7755043	A549	lung:	n/a	n/a
37	CTCF	chr18:7735372-7735475	GM12878	blood:	n/a	n/a
38	CTCF	chr18:7735340-7735490	HPF	lung:	n/a	n/a
39	CTCF	chr18:7755660-7755810	HAc	cerebellar:	n/a	n/a
40	CTCF	chr18:7735339-7735454	A549	lung:	n/a	n/a
41	CTCF	chr18:7754940-7755090	Caco-2	colon:	n/a	chr18:7755005-7755018
42	CTCF	chr18:7755820-7755970	HCPEpiC	choroid plexus:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
43	CTCF	chr18:7755800-7755950	HEK293	kidney:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
44	CTCF	chr18:7735280-7735430	SAEC	small airway:	n/a	n/a
45	CTCF	chr18:7755820-7755970	NHDF-neo	bronchial:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
46	CTCF	chr18:7735320-7735470	RPTEC	kidney:	n/a	n/a
47	CTCF	chr18:7755860-7756010	HA-sp	spinal cord:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
48	CTCF	chr18:7755820-7755970	HepG2	liver:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
49	CTCF	chr18:7755860-7756010	HPF	lung:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
50	CTCF	chr18:7735320-7735470	BJ	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:7755817..7756409-chr5:151977437..151978212,2	MCF-7	breast:
2	chr18:7749744..7751445-chr18:7751627..7754409,2	MCF-7	breast:
3	chr18:7747994..7750042-chr18:7751326..7753624,2	K562	blood:
4	chr18:7745866..7749831-chr18:7752461..7755443,3	MCF-7	breast:
5	chr18:7745866..7749831-chr18:7752461..7755443,3	MCF-7	breast:
6	chr18:7749744..7751445-chr18:7751627..7754409,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LAMA1-5	chr18:7751018-7751503	ENSG00000266767.1
2	lnc-LAMA1-5	chr18:7749057-7749441	NONHSAT057159
3	lnc-LAMA1-5	chr18:7740621-7741979	NONHSAT057159
4	lnc-LAMA1-5	chr18:7749057-7749197	ENSG00000266767.1
5	lnc-LAMA1-5	chr18:7747531-7747656	ENSG00000266767.1
6	lnc-LAMA1-5	chr18:7749057-7749441	ENSG00000266767.1
7	lnc-LAMA1-5	chr18:7754762-7754829	ENSG00000266767.1
8	lnc-LAMA1-5	chr18:7741308-7741979	ENSG00000266767.1

Variant related genes	Relation type
ENSG00000266767	TF binding region
PTPRM	TF binding region
ENSG00000221631	TF binding region
ENSG00000266767	chromatin interactions
ENSG00000173482	chromatin interactions

Extended variants
information (count: 1101 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76373405	chr18:7730117-7730118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570230103	chr18:7730127-7730128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs8095773	chr18:7730157-7730158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549484499	chr18:7730203-7730204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140658811	chr18:7730233-7730234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10602344	chr18:7730234-7730235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553398059	chr18:7730261-7730262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189228787	chr18:7730293-7730294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527284068	chr18:7730295-7730296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536660496	chr18:7730314-7730315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534989683	chr18:7730362-7730363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148495780	chr18:7730378-7730379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2027671	chr18:7730386-7730387	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537347257	chr18:7730390-7730391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181749617	chr18:7730391-7730392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186304055	chr18:7730405-7730406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142875485	chr18:7730477-7730478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189663065	chr18:7730572-7730573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75204063	chr18:7730585-7730586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373533003	chr18:7730628-7730629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147282925	chr18:7730648-7730649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564808070	chr18:7730664-7730665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140811607	chr18:7730701-7730702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544086764	chr18:7730707-7730708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113026360	chr18:7730730-7730731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561724713	chr18:7730761-7730762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147925279	chr18:7730762-7730763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559851961	chr18:7730782-7730783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528497469	chr18:7730811-7730812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144063560	chr18:7730823-7730824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531402889	chr18:7730842-7730843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550026674	chr18:7730847-7730848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551845440	chr18:7730857-7730858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76298797	chr18:7730907-7730908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536979636	chr18:7730983-7730984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550827889	chr18:7730997-7730998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373369662	chr18:7731039-7731040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200864299	chr18:7731066-7731067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567370168	chr18:7731205-7731206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536005492	chr18:7731243-7731244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185197336	chr18:7731274-7731275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554984942	chr18:7731286-7731287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572560058	chr18:7731304-7731305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538345216	chr18:7731311-7731312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114410989	chr18:7731337-7731338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575163011	chr18:7731348-7731349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141871619	chr18:7731372-7731373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs16952466	chr18:7731373-7731374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150050276	chr18:7731381-7731382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1446078	chr18:7731404-7731405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
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
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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	17377590	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:679 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7723000-7733800	Weak transcription	A549	lung
2	chr18:7724000-7734200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:7724600-7730400	Weak transcription	Fetal Kidney	kidney
4	chr18:7726000-7734200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr18:7726200-7733600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:7726200-7733800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:7726200-7733800	Weak transcription	Psoas Muscle	Psoas
8	chr18:7727400-7732800	Weak transcription	Right Ventricle	heart
9	chr18:7727400-7734000	Weak transcription	Aorta	Aorta
10	chr18:7728000-7738800	Weak transcription	Thymus	Thymus
11	chr18:7728200-7731800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:7728600-7730400	Weak transcription	Fetal Heart	heart
13	chr18:7728600-7730600	Enhancers	Fetal Intestine Small	intestine
14	chr18:7728600-7733800	Weak transcription	Gastric	stomach
15	chr18:7728600-7735200	Weak transcription	Colon Smooth Muscle	Colon
16	chr18:7728600-7740000	Weak transcription	Fetal Stomach	stomach
17	chr18:7728800-7733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr18:7728800-7733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr18:7728800-7733600	Weak transcription	Left Ventricle	heart
20	chr18:7728800-7733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:7728800-7733800	Weak transcription	HMEC	breast
22	chr18:7728800-7734000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:7729000-7730600	Enhancers	Fetal Intestine Large	intestine
24	chr18:7729000-7733600	Weak transcription	NHEK	skin
25	chr18:7729200-7732200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:7729200-7733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:7729200-7737000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:7729400-7730200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr18:7729400-7730600	Enhancers	HepG2	liver
30	chr18:7729400-7732200	Weak transcription	Pancreas	Pancrea
31	chr18:7729600-7732800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:7730000-7731000	Enhancers	Fetal Lung	lung
33	chr18:7730400-7730600	Enhancers	Fetal Kidney	kidney
34	chr18:7730400-7731000	Enhancers	Fetal Heart	heart
35	chr18:7730600-7733600	Weak transcription	HepG2	liver
36	chr18:7730600-7734800	Weak transcription	Fetal Intestine Large	intestine
37	chr18:7731000-7734600	Weak transcription	Fetal Heart	heart
38	chr18:7731800-7732600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:7732200-7732400	Enhancers	Pancreas	Pancrea
40	chr18:7732200-7732800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:7732200-7732800	Weak transcription	Fetal Muscle Leg	muscle
42	chr18:7732400-7733800	Weak transcription	Pancreas	Pancrea
43	chr18:7732600-7733800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr18:7732800-7733200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:7732800-7733800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr18:7733000-7733800	Weak transcription	Fetal Muscle Leg	muscle
47	chr18:7733200-7733800	Weak transcription	Right Ventricle	heart
48	chr18:7733200-7734800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:7733600-7734000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr18:7733600-7734400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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