Variant report

Variant	esv2656311
Chromosome Location	chr18:7732141-7761056
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	chr18:7755669-7756066	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	chr18:7743284-7743614	IMR90	lung:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
6	CEBPB	chr18:7739664-7739958	K562	blood:	n/a	n/a
7	CEBPB	chr18:7755740-7756370	HepG2	liver:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
8	CEBPB	chr18:7743286-7743615	A549	lung:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
9	CEBPB	chr18:7754719-7755107	HepG2	liver:	n/a	n/a
10	CEBPB	chr18:7749687-7750078	HepG2	liver:	n/a	n/a
11	CEBPB	chr18:7755866-7756067	H1-hESC	embryonic stem cell:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
12	CEBPB	chr18:7755758-7756128	MCF-7	breast:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
13	CEBPB	chr18:7751013-7751174	HepG2	liver:	n/a	n/a
14	CEBPB	chr18:7755734-7756078	A549	lung:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
15	CEBPB	chr18:7743361-7743507	H1-hESC	embryonic stem cell:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
16	CEBPB	chr18:7743291-7743549	Hela-S3	cervix:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
17	CEBPB	chr18:7755658-7756217	A549	lung:	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	chr18:7755844-7756009	HepG2	liver:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
20	CEBPB	chr18:7750692-7751262	HepG2	liver:	n/a	chr18:7750816-7750833
21	CEBPB	chr18:7757160-7757659	A549	lung:	n/a	chr18:7757399-7757410
22	CEBPB	chr18:7755770-7756057	K562	blood:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
23	CEBPB	chr18:7757245-7757538	IMR90	lung:	n/a	chr18:7757399-7757410
24	CEBPB	chr18:7755791-7756068	A549	lung:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
25	CEBPB	chr18:7755757-7756106	IMR90	lung:	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	chr18:7757249-7757585	A549	lung:	n/a	chr18:7757399-7757410
28	CEBPB	chr18:7757346-7757484	HepG2	liver:	n/a	chr18:7757399-7757410
29	CEBPB	chr18:7739650-7739958	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr18:7755730-7756076	HepG2	liver:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
31	CEBPB	chr18:7739658-7739936	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr18:7755769-7756053	Hela-S3	cervix:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
33	CEBPB	chr18:7755754-7756077	HepG2	liver:	n/a	chr18:7755923-7755932 chr18:7755921-7755934 chr18:7755923-7755934 chr18:7755921-7755932
34	CEBPB	chr18:7755768-7756016	MCF-7	breast:	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	chr18:7735340-7735490	AG09309	skin:	n/a	n/a
38	CTCF	chr18:7755820-7755970	Caco-2	colon:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
39	CTCF	chr18:7755780-7755930	AG09309	skin:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
40	CTCF	chr18:7735320-7735470	GM06990	blood:	n/a	n/a
41	CTCF	chr18:7735281-7735494	Gliobla	brain:	n/a	n/a
42	CTCF	chr18:7742530-7742585	GM20000	blood:	n/a	n/a
43	CTCF	chr18:7735300-7735450	HEK293	kidney:	n/a	n/a
44	CTCF	chr18:7755840-7755990	HPAF	blood vessel:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
45	CTCF	chr18:7735320-7735470	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr18:7735300-7735450	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr18:7755820-7755970	HBMEC	blood vessel:	n/a	chr18:7755889-7755905 chr18:7755883-7755904 chr18:7755893-7755901
48	CTCF	chr18:7735354-7735410	GM12892	blood:	n/a	n/a
49	CTCF	chr18:7735320-7735470	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr18:7735333-7735459	Pancreas_OC	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:7745866..7749831-chr18:7752461..7755443,3	MCF-7	breast:
2	chr18:7747994..7750042-chr18:7751326..7753624,2	K562	blood:
3	chr18:7755817..7756409-chr5:151977437..151978212,2	MCF-7	breast:
4	chr18:7749744..7751445-chr18:7751627..7754409,2	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	chr18:7741308-7741979	ENSG00000266767.1
2	lnc-LAMA1-5	chr18:7749057-7749197	ENSG00000266767.1
3	lnc-LAMA1-5	chr18:7749057-7749441	ENSG00000266767.1
4	lnc-LAMA1-5	chr18:7749057-7749441	NONHSAT057159
5	lnc-LAMA1-5	chr18:7751018-7751503	ENSG00000266767.1
6	lnc-LAMA1-5	chr18:7740621-7741979	NONHSAT057159
7	lnc-LAMA1-5	chr18:7754762-7754829	ENSG00000266767.1
8	lnc-LAMA1-5	chr18:7747531-7747656	ENSG00000266767.1

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

Extended variants
information (count: 1029 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1029 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2027670	chr18:7732141-7732142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191649949	chr18:7732150-7732151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200348105	chr18:7732175-7732176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568889125	chr18:7732187-7732188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs16952467	chr18:7732188-7732189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557567967	chr18:7732195-7732196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544546028	chr18:7732220-7732221	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560945820	chr18:7732308-7732309	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529979370	chr18:7732349-7732350	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs58392459	chr18:7732379-7732380	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555719005	chr18:7732409-7732410	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571277241	chr18:7732423-7732424	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79993957	chr18:7732432-7732433	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532148357	chr18:7732445-7732446	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552001677	chr18:7732450-7732451	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112744491	chr18:7732456-7732457	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79167312	chr18:7732457-7732458	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200534518	chr18:7732468-7732469	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183532113	chr18:7732487-7732488	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574173724	chr18:7732510-7732511	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554589414	chr18:7732511-7732512	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188132299	chr18:7732527-7732528	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372877292	chr18:7732570-7732571	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs8084888	chr18:7732619-7732620	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs191323868	chr18:7732642-7732643	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs182746773	chr18:7732656-7732657	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs114922979	chr18:7732694-7732695	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs371550919	chr18:7732710-7732711	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs558784339	chr18:7732713-7732714	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs146463100	chr18:7732739-7732740	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs9958957	chr18:7732778-7732779	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560003573	chr18:7732837-7732838	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560982482	chr18:7732899-7732900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs1470471	chr18:7732917-7732918	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186972027	chr18:7732924-7732925	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559982002	chr18:7733051-7733052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs555606476	chr18:7733055-7733056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs202059642	chr18:7733058-7733059	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs532218097	chr18:7733096-7733097	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140889057	chr18:7733111-7733112	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs562532447	chr18:7733136-7733137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs192488779	chr18:7733143-7733144	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs8089054	chr18:7733196-7733197	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547954604	chr18:7733200-7733201	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs568084647	chr18:7733217-7733218	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs8089176	chr18:7733224-7733225	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35072144	chr18:7733229-7733230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs4798591	chr18:7733234-7733235	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs567121478	chr18:7733235-7733236	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs35354022	chr18:7733250-7733251	Weak transcription ZNF genes & repeats	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:676 , 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	chr18:7727400-7732800	Weak transcription	Right Ventricle	heart
8	chr18:7727400-7734000	Weak transcription	Aorta	Aorta
9	chr18:7728000-7738800	Weak transcription	Thymus	Thymus
10	chr18:7728600-7733800	Weak transcription	Gastric	stomach
11	chr18:7728600-7735200	Weak transcription	Colon Smooth Muscle	Colon
12	chr18:7728600-7740000	Weak transcription	Fetal Stomach	stomach
13	chr18:7728800-7733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:7728800-7733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:7728800-7733600	Weak transcription	Left Ventricle	heart
16	chr18:7728800-7733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:7728800-7733800	Weak transcription	HMEC	breast
18	chr18:7728800-7734000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:7729000-7733600	Weak transcription	NHEK	skin
20	chr18:7729200-7732200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:7729200-7733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr18:7729200-7737000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:7729400-7732200	Weak transcription	Pancreas	Pancrea
24	chr18:7729600-7732800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:7730600-7733600	Weak transcription	HepG2	liver
26	chr18:7730600-7734800	Weak transcription	Fetal Intestine Large	intestine
27	chr18:7731000-7734600	Weak transcription	Fetal Heart	heart
28	chr18:7731800-7732600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:7732200-7732400	Enhancers	Pancreas	Pancrea
30	chr18:7732200-7732800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:7732200-7732800	Weak transcription	Fetal Muscle Leg	muscle
32	chr18:7732400-7733800	Weak transcription	Pancreas	Pancrea
33	chr18:7732600-7733800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:7732800-7733200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:7732800-7733800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr18:7733000-7733800	Weak transcription	Fetal Muscle Leg	muscle
37	chr18:7733200-7733800	Weak transcription	Right Ventricle	heart
38	chr18:7733200-7734800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:7733600-7734000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr18:7733600-7734400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:7733600-7734400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr18:7733600-7735000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr18:7733600-7735200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr18:7733600-7735200	Enhancers	NHEK	skin
45	chr18:7733600-7735400	Enhancers	Left Ventricle	heart
46	chr18:7733600-7735800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:7733600-7736200	Enhancers	HepG2	liver
48	chr18:7733800-7734000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr18:7733800-7734000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr18:7733800-7734000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links