Variant report

Variant	nsv576421
Chromosome Location	chr18:7732917-7761056
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	chr18:7754639-7755251	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:7755669-7756066	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	chr18:7739664-7739958	K562	blood:	n/a	n/a
6	CEBPB	chr18:7743286-7743615	A549	lung:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
7	CEBPB	chr18:7757245-7757538	IMR90	lung:	n/a	chr18:7757399-7757410
8	CEBPB	chr18:7755754-7756077	HepG2	liver:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
9	CEBPB	chr18:7750692-7751262	HepG2	liver:	n/a	chr18:7750816-7750833
10	CEBPB	chr18:7757346-7757484	HepG2	liver:	n/a	chr18:7757399-7757410
11	CEBPB	chr18:7757249-7757585	A549	lung:	n/a	chr18:7757399-7757410
12	CEBPB	chr18:7755734-7756078	A549	lung:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
13	CEBPB	chr18:7743291-7743549	Hela-S3	cervix:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
14	CEBPB	chr18:7755768-7756016	MCF-7	breast:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
15	CEBPB	chr18:7757160-7757659	A549	lung:	n/a	chr18:7757399-7757410
16	CEBPB	chr18:7755770-7756057	K562	blood:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
17	CEBPB	chr18:7743291-7743630	HepG2	liver:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
18	CEBPB	chr18:7754719-7755107	HepG2	liver:	n/a	n/a
19	CEBPB	chr18:7751013-7751174	HepG2	liver:	n/a	n/a
20	CEBPB	chr18:7743284-7743614	IMR90	lung:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
21	CEBPB	chr18:7755740-7756370	HepG2	liver:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
22	CEBPB	chr18:7749687-7750078	HepG2	liver:	n/a	n/a
23	CEBPB	chr18:7755757-7756106	IMR90	lung:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
24	CEBPB	chr18:7755730-7756076	HepG2	liver:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
25	CEBPB	chr18:7755844-7756009	HepG2	liver:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
26	CEBPB	chr18:7755791-7756068	A549	lung:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
27	CEBPB	chr18:7754658-7755189	HepG2	liver:	n/a	n/a
28	CEBPB	chr18:7755866-7756067	H1-hESC	embryonic stem cell:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
29	CEBPB	chr18:7755769-7756053	Hela-S3	cervix:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
30	CEBPB	chr18:7739650-7739958	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr18:7743361-7743507	H1-hESC	embryonic stem cell:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
32	CEBPB	chr18:7755658-7756217	A549	lung:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
33	CEBPB	chr18:7755758-7756128	MCF-7	breast:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
34	CEBPB	chr18:7739658-7739936	Hela-S3	cervix:	n/a	n/a
35	CEBPD	chr18:7754686-7755097	HepG2	liver:	n/a	n/a
36	CREB1	chr18:7754719-7755043	A549	lung:	n/a	n/a
37	CTCF	chr18:7735352-7735397	GM19238	blood:	n/a	n/a
38	CTCF	chr18:7755820-7755970	HepG2	liver:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
39	CTCF	chr18:7735260-7735410	HRE	kidney:	n/a	n/a
40	CTCF	chr18:7755800-7755950	BJ	skin:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
41	CTCF	chr18:7755820-7755970	A549	lung:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
42	CTCF	chr18:7735340-7735490	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr18:7735340-7735490	NHEK	skin:	n/a	n/a
44	CTCF	chr18:7755840-7755990	AG10803	skin:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
45	CTCF	chr18:7755840-7755990	Caco-2	colon:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
46	CTCF	chr18:7755820-7755970	RPTEC	kidney:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
47	CTCF	chr18:7735241-7735526	GM12878	blood:	n/a	n/a
48	CTCF	chr18:7755780-7755930	MCF-7	breast:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
49	CTCF	chr18:7735360-7735510	AG10803	skin:	n/a	n/a
50	CTCF	chr18:7735280-7735430	GM12869	blood:	n/a	n/a

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

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

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: 996 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:996 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1470471	chr18:7732917-7732918	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186972027	chr18:7732924-7732925	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs559982002	chr18:7733051-7733052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs555606476	chr18:7733055-7733056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs202059642	chr18:7733058-7733059	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs532218097	chr18:7733096-7733097	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs140889057	chr18:7733111-7733112	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs562532447	chr18:7733136-7733137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192488779	chr18:7733143-7733144	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs8089054	chr18:7733196-7733197	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547954604	chr18:7733200-7733201	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs568084647	chr18:7733217-7733218	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs8089176	chr18:7733224-7733225	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35072144	chr18:7733229-7733230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs4798591	chr18:7733234-7733235	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567121478	chr18:7733235-7733236	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs35354022	chr18:7733250-7733251	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs184752581	chr18:7733266-7733267	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187904330	chr18:7733288-7733289	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs371978957	chr18:7733310-7733311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs8089769	chr18:7733320-7733321	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs8093450	chr18:7733343-7733344	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs141351065	chr18:7733395-7733396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574508924	chr18:7733405-7733406	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs4424981	chr18:7733483-7733484	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369699599	chr18:7733511-7733512	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560019907	chr18:7733533-7733534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs560376183	chr18:7733647-7733648	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577107633	chr18:7733697-7733698	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4429368	chr18:7733792-7733793	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562731127	chr18:7733816-7733817	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs531376997	chr18:7733876-7733877	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548318481	chr18:7733894-7733895	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs529735293	chr18:7733937-7733938	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs561723225	chr18:7733940-7733941	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs6506530	chr18:7733989-7733990	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs9953627	chr18:7734005-7734006	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs644399	chr18:7734016-7734017	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs539355335	chr18:7734033-7734034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10163896	chr18:7734045-7734046	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs138082034	chr18:7734061-7734062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193050854	chr18:7734098-7734099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569700219	chr18:7734146-7734147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566638613	chr18:7734170-7734171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200363554	chr18:7734172-7734173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554652334	chr18:7734189-7734190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574546092	chr18:7734205-7734206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534025330	chr18:7734211-7734212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553783698	chr18:7734243-7734244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543568464	chr18:7734269-7734270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:668 , 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	chr18:7726000-7734200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr18:7726200-7733600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:7726200-7733800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:7726200-7733800	Weak transcription	Psoas Muscle	Psoas
7	chr18:7727400-7734000	Weak transcription	Aorta	Aorta
8	chr18:7728000-7738800	Weak transcription	Thymus	Thymus
9	chr18:7728600-7733800	Weak transcription	Gastric	stomach
10	chr18:7728600-7735200	Weak transcription	Colon Smooth Muscle	Colon
11	chr18:7728600-7740000	Weak transcription	Fetal Stomach	stomach
12	chr18:7728800-7733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:7728800-7733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:7728800-7733600	Weak transcription	Left Ventricle	heart
15	chr18:7728800-7733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:7728800-7733800	Weak transcription	HMEC	breast
17	chr18:7728800-7734000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:7729000-7733600	Weak transcription	NHEK	skin
19	chr18:7729200-7733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:7729200-7737000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:7730600-7733600	Weak transcription	HepG2	liver
22	chr18:7730600-7734800	Weak transcription	Fetal Intestine Large	intestine
23	chr18:7731000-7734600	Weak transcription	Fetal Heart	heart
24	chr18:7732400-7733800	Weak transcription	Pancreas	Pancrea
25	chr18:7732600-7733800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:7732800-7733200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:7732800-7733800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:7733000-7733800	Weak transcription	Fetal Muscle Leg	muscle
29	chr18:7733200-7733800	Weak transcription	Right Ventricle	heart
30	chr18:7733200-7734800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:7733600-7734000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:7733600-7734400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:7733600-7734400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:7733600-7735000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr18:7733600-7735200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr18:7733600-7735200	Enhancers	NHEK	skin
37	chr18:7733600-7735400	Enhancers	Left Ventricle	heart
38	chr18:7733600-7735800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr18:7733600-7736200	Enhancers	HepG2	liver
40	chr18:7733800-7734000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr18:7733800-7734000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr18:7733800-7734000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr18:7733800-7734000	Enhancers	Fetal Muscle Leg	muscle
44	chr18:7733800-7734000	Enhancers	Lung	lung
45	chr18:7733800-7734400	Enhancers	Psoas Muscle	Psoas
46	chr18:7733800-7734400	Enhancers	Right Ventricle	heart
47	chr18:7733800-7734400	Enhancers	Stomach Mucosa	stomach
48	chr18:7733800-7735400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:7733800-7735400	Enhancers	Gastric	stomach
50	chr18:7733800-7735400	Enhancers	HMEC	breast

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