Variant report

Variant	nsv1062454
Chromosome Location	chr18:7784432-7838015
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	chr18:7812328-7812873	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:7789923-7790193	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:7803881-7804600	HepG2	liver:	n/a	chr18:7804471-7804487
4	ATF1	chr18:7830466-7830793	K562	blood:	n/a	n/a
5	BACH1	chr18:7789903-7790543	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr18:7790073-7790075	K562	blood:	n/a	n/a
7	BRCA1	chr18:7823006-7823065	GM12878	blood:	n/a	n/a
8	CEBPB	chr18:7784282-7784549	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr18:7821710-7822045	Hela-S3	cervix:	n/a	chr18:7822019-7822030 chr18:7821868-7821879
10	CEBPB	chr18:7821734-7822002	HepG2	liver:	n/a	chr18:7821868-7821879
11	CEBPB	chr18:7812466-7812838	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr18:7788420-7788620	HepG2	liver:	n/a	chr18:7788561-7788572
13	CEBPB	chr18:7784257-7784527	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr18:7803883-7804442	HepG2	liver:	n/a	n/a
15	CEBPB	chr18:7812502-7812888	HepG2	liver:	n/a	n/a
16	CEBPB	chr18:7812551-7812823	A549	lung:	n/a	n/a
17	CHD2	chr18:7830496-7830745	H1-hESC	embryonic stem cell:	n/a	n/a
18	CREB1	chr18:7830427-7830819	HepG2	liver:	n/a	n/a
19	CREB1	chr18:7830422-7830884	GM12878	blood:	n/a	n/a
20	CREB1	chr18:7830405-7830812	HepG2	liver:	n/a	n/a
21	CREB1	chr18:7830488-7830838	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr18:7830331-7830873	GM12878	blood:	n/a	n/a
23	CREB1	chr18:7830400-7830940	K562	blood:	n/a	n/a
24	CREB1	chr18:7830519-7830746	A549	lung:	n/a	n/a
25	CREB1	chr18:7830366-7830923	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr18:7789940-7790161	LNCaP	prostate:	n/a	chr18:7790022-7790040
27	CTCF	chr18:7789936-7790155	Lung_OC	lung:	n/a	chr18:7790022-7790040
28	CTCF	chr18:7822840-7822990	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr18:7801457-7801520	Medullo	brain:	n/a	n/a
30	CTCF	chr18:7789862-7790223	GM12878	blood:	n/a	chr18:7790022-7790040
31	CTCF	chr18:7789977-7790151	A549	lung:	n/a	chr18:7790022-7790040
32	CTCF	chr18:7806020-7806170	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr18:7790000-7790150	GM12869	blood:	n/a	chr18:7790022-7790040
34	CTCF	chr18:7790000-7790150	GM06990	blood:	n/a	chr18:7790022-7790040
35	CTCF	chr18:7805980-7806130	NHEK	skin:	n/a	n/a
36	CTCF	chr18:7806060-7806210	HEK293	kidney:	n/a	n/a
37	CTCF	chr18:7789940-7790090	HPF	lung:	n/a	chr18:7790022-7790040
38	CTCF	chr18:7790000-7790150	HVMF	connective:	n/a	chr18:7790022-7790040
39	CTCF	chr18:7789985-7790155	Fibrobl	skin:	n/a	chr18:7790022-7790040
40	CTCF	chr18:7831660-7831810	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr18:7789961-7790153	NHEK	skin:	n/a	chr18:7790022-7790040
42	CTCF	chr18:7789980-7790130	AG04449	skin:	n/a	chr18:7790022-7790040
43	CTCF	chr18:7789917-7790175	H1-hESC	embryonic stem cell:	n/a	chr18:7790022-7790040
44	CTCF	chr18:7831660-7831810	HCFaa	heart:	n/a	n/a
45	CTCF	chr18:7805980-7806130	AG04449	skin:	n/a	n/a
46	CTCF	chr18:7789960-7790110	BJ	skin:	n/a	chr18:7790022-7790040
47	CTCF	chr18:7789938-7790150	Medullo	brain:	n/a	chr18:7790022-7790040
48	CTCF	chr18:7790000-7790150	WERI-Rb-1	eye:	n/a	chr18:7790022-7790040
49	CTCF	chr18:7789940-7790090	NHEK	skin:	n/a	chr18:7790022-7790040
50	CTCF	chr18:7805960-7806110	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7789635..7790445-chr18:8480180..8481061,3	MCF-7	breast:
2	chr18:7789624..7790355-chr18:8478575..8479414,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC30-4	chr18:7814116-7815728	ENSG00000264596.1

Variant related genes	Relation type
ENSG00000264596	TF binding region
ENSG00000263827	TF binding region

Extended variants
information (count: 2012 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2012 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188620088	chr18:7784463-7784464	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552879387	chr18:7784465-7784466	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191139871	chr18:7784484-7784485	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183737950	chr18:7784493-7784494	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189319759	chr18:7784494-7784495	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146322763	chr18:7784510-7784511	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9961614	chr18:7784529-7784530	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568594041	chr18:7784577-7784578	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139173783	chr18:7784598-7784599	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141449454	chr18:7784659-7784660	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182310977	chr18:7784723-7784724	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9949274	chr18:7784741-7784742	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs371911385	chr18:7784793-7784794	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373616134	chr18:7784833-7784834	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78322852	chr18:7784857-7784858	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576242400	chr18:7784862-7784863	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542023339	chr18:7784868-7784869	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7233842	chr18:7784872-7784873	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558972375	chr18:7784880-7784881	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368374908	chr18:7784888-7784889	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113937677	chr18:7784909-7784910	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138251214	chr18:7784955-7784956	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376680167	chr18:7785009-7785010	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77543917	chr18:7785038-7785039	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369744108	chr18:7785050-7785051	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543033068	chr18:7785057-7785058	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149612994	chr18:7785068-7785069	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530323945	chr18:7785094-7785095	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187438103	chr18:7785111-7785112	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548805491	chr18:7785119-7785120	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189814641	chr18:7785120-7785121	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12966429	chr18:7785148-7785149	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185570732	chr18:7785154-7785155	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570837312	chr18:7785237-7785238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539857509	chr18:7785268-7785269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556250016	chr18:7785278-7785279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560432973	chr18:7785324-7785325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140170254	chr18:7785358-7785359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535324503	chr18:7785377-7785378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76420947	chr18:7785394-7785395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373856113	chr18:7785398-7785399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144008014	chr18:7785422-7785423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534486225	chr18:7785424-7785425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557866337	chr18:7785430-7785431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374278746	chr18:7785438-7785439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10538608	chr18:7785439-7785440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561586904	chr18:7785440-7785441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190387821	chr18:7785451-7785452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs33965714	chr18:7785452-7785453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543424999	chr18:7785453-7785454	Weak transcription Enhancers	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:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7761800-7789400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:7762600-7788600	Weak transcription	HepG2	liver
3	chr18:7762800-7787400	Weak transcription	Right Atrium	heart
4	chr18:7766800-7811200	Weak transcription	Aorta	Aorta
5	chr18:7767200-7812400	Weak transcription	Pancreas	Pancrea
6	chr18:7772200-7789400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr18:7773200-7787200	Weak transcription	Fetal Heart	heart
8	chr18:7774000-7790000	Weak transcription	Psoas Muscle	Psoas
9	chr18:7778400-7784800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:7778400-7786600	Weak transcription	A549	lung
11	chr18:7778800-7789400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:7778800-7790000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:7779400-7790000	Weak transcription	Hela-S3	cervix
14	chr18:7780800-7784800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr18:7780800-7787200	Weak transcription	Fetal Thymus	thymus
16	chr18:7783200-7784800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:7783200-7784800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:7783200-7785000	Enhancers	Placenta	Placenta
19	chr18:7784000-7784800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:7784000-7784800	Weak transcription	Left Ventricle	heart
21	chr18:7784000-7784800	Weak transcription	Right Ventricle	heart
22	chr18:7784000-7785000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr18:7784200-7785000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr18:7784200-7785000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:7784200-7787200	Weak transcription	Thymus	Thymus
26	chr18:7784400-7784800	Weak transcription	Lung	lung
27	chr18:7784800-7785000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:7784800-7785200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr18:7784800-7785200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr18:7784800-7785200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:7784800-7785200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:7784800-7785200	Enhancers	Left Ventricle	heart
33	chr18:7784800-7785200	Enhancers	Lung	lung
34	chr18:7784800-7785200	Enhancers	Right Ventricle	heart
35	chr18:7784800-7785200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr18:7784800-7785800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr18:7785000-7785200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:7785000-7789600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:7785000-7789600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr18:7785200-7786800	Weak transcription	Right Ventricle	heart
41	chr18:7785200-7787200	Weak transcription	Left Ventricle	heart
42	chr18:7785200-7787400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr18:7785200-7787400	Weak transcription	Lung	lung
44	chr18:7785200-7789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:7785200-7789400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr18:7785200-7789600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:7785200-7790000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr18:7785400-7785600	Enhancers	Fetal Brain Male	brain
49	chr18:7785600-7790400	Weak transcription	Fetal Brain Male	brain
50	chr18:7785800-7786400	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links