Variant report

Variant	esv3343280
Chromosome Location	chr18:10652-15050
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	BATF	chr18:10049-10662	GM12878	blood:	n/a	n/a
2	BCL11A	chr18:10392-10708	GM12878	blood:	n/a	n/a
3	BCL11A	chr18:9938-10711	GM12878	blood:	n/a	n/a
4	CBX3	chr18:9926-10815	K562	blood:	n/a	n/a
5	CBX3	chr18:9952-10758	K562	blood:	n/a	n/a
6	CEBPB	chr18:9933-10821	GM12878	blood:	n/a	n/a
7	CEBPB	chr18:11762-11832	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr18:9854-10855	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPD	chr18:9958-10726	K562	blood:	n/a	n/a
10	CHD2	chr18:11844-11875	HepG2	liver:	n/a	n/a
11	CREB1	chr18:11591-11950	A549	lung:	n/a	n/a
12	CTCF	chr18:11640-11790	GM12866	blood:	n/a	n/a
13	CTCF	chr18:11640-11790	HCFaa	heart:	n/a	n/a
14	CTCF	chr18:11704-11931	Gliobla	brain:	n/a	chr18:11812-11821
15	CTCF	chr18:11616-11965	ECC-1	luminal epithelium:	n/a	chr18:11812-11821
16	CTCF	chr18:11552-12042	H1-hESC	embryonic stem cell:	n/a	chr18:11812-11821
17	CTCF	chr18:11762-11856	ProgFib	skin:	n/a	chr18:11812-11821
18	CTCF	chr18:11640-11790	GM12869	blood:	n/a	n/a
19	CTCF	chr18:11413-12470	HCT-116	colon:	n/a	chr18:12258-12268 chr18:11812-11821 chr18:12255-12273
20	CTCF	chr18:11760-11910	HEK293	kidney:	n/a	chr18:11812-11821
21	CTCF	chr18:11393-12012	A549	lung:	n/a	chr18:11812-11821
22	CTCF	chr18:11720-11870	MCF-7	breast:	n/a	chr18:11812-11821
23	CTCF	chr18:11748-11897	MCF-7	breast:	n/a	chr18:11812-11821
24	CTCF	chr18:11543-11957	A549	lung:	n/a	chr18:11812-11821
25	CTCF	chr18:11713-11928	MCF-7	breast:	n/a	chr18:11812-11821
26	CTCF	chr18:11700-11850	AG04449	skin:	n/a	chr18:11812-11821
27	CTCF	chr18:11660-11810	RPTEC	kidney:	n/a	n/a
28	CTCF	chr18:11740-11890	HRPEpiC	eye:	n/a	chr18:11812-11821
29	CTCF	chr18:11720-11870	GM12866	blood:	n/a	chr18:11812-11821
30	CTCF	chr18:11620-11770	GM12864	blood:	n/a	n/a
31	CTCF	chr18:11265-12280	A549	lung:	n/a	chr18:12258-12268 chr18:11812-11821 chr18:12255-12273
32	CTCF	chr18:11720-11870	GM12871	blood:	n/a	chr18:11812-11821
33	CTCF	chr18:11620-11770	HRE	kidney:	n/a	n/a
34	CTCF	chr18:11740-11890	SK-N-SH_RA	brain:	n/a	chr18:11812-11821
35	CTCF	chr18:11680-11830	HMEC	breast:	n/a	chr18:11812-11821
36	CTCF	chr18:11686-11926	LNCaP	prostate:	n/a	chr18:11812-11821
37	CTCF	chr18:11640-11790	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr18:11640-11790	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr18:11660-12113	K562	blood:	n/a	chr18:11812-11821
40	CTCF	chr18:11700-11850	HMEC	breast:	n/a	chr18:11812-11821
41	CTCF	chr18:11712-11900	LNCaP	prostate:	n/a	chr18:11812-11821
42	CTCF	chr18:11626-11892	SK-N-SH_RA	brain:	n/a	chr18:11812-11821
43	CTCF	chr18:14484-14506	GM13976	blood:	n/a	n/a
44	CTCF	chr18:11720-11870	SK-N-SH_RA	brain:	n/a	chr18:11812-11821
45	CTCF	chr18:11700-11850	BE2_C	brain:	n/a	chr18:11812-11821
46	CTCF	chr18:13420-13570	GM12875	blood:	n/a	n/a
47	CTCF	chr18:11620-11770	HCM	heart:	n/a	n/a
48	CTCF	chr18:11720-11870	HepG2	liver:	n/a	chr18:11812-11821
49	CTCF	chr18:11763-11866	Hela-S3	cervix:	n/a	chr18:11812-11821
50	CTCF	chr18:11588-11963	K562	blood:	n/a	chr18:11812-11821

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:11231-11281	HAEpiC	amniotic membrane:	n/a
2	chr18:11724-11774	GM19239	blood:	n/a
3	chr18:11231-11281	HAEpiC	amniotic membrane:	n/a
4	chr18:11724-11774	GM19239	blood:	n/a
5	chr18:11231-11281	HCT-116	colon:	n/a
6	chr18:12371-12421	LNCaP	prostate:	n/a
7	chr18:11231-11281	MCF10A-Er-Src	breast:	n/a
8	chr18:11948-11998	Hela-S3	cervix:	n/a
9	chr18:12371-12421	AoSMC	blood vessel:	n/a
10	chr18:12437-12487	AG04449	skin:	fetal
11	chr18:11948-11998	HEEpiC	esophagus:	n/a
12	chr18:12437-12487	A549	lung:	n/a
13	chr18:11231-11281	AG04450	lung:	fetal
14	chr18:11948-11998	SKMC	muscle:	n/a
15	chr18:11948-11998	ProgFib	skin:	n/a
16	chr18:11948-11998	NB4	blood:	n/a
17	chr18:11724-11774	Hela-S3	cervix:	n/a
18	chr18:12371-12421	HCM	heart:	n/a
19	chr18:11948-11998	NHDF-neo	bronchial:	n/a
20	chr18:11948-11998	MCF-7	breast:	n/a
21	chr18:11948-11998	Jurkat	blood:	n/a
22	chr18:11948-11998	HRCEpiC	kidney:	n/a
23	chr18:11724-11774	HCF	heart:	n/a
24	chr18:12437-12487	PANC-1	pancreas:	n/a
25	chr18:12371-12421	SKMC	muscle:	n/a
26	chr18:11855-11905	PFSK-1	brain:	n/a
27	chr18:12437-12487	HUVEC	blood vessel:	n/a
28	chr18:11231-11281	H1-hESC	embryonic stem cell:	embryo
29	chr18:12371-12421	HPAEpiC	pulmonary alveolar:	n/a
30	chr18:11948-11998	HCPEpiC	choroid plexus:	n/a
31	chr18:11855-11905	NH-A	brain:	n/a
32	chr18:11724-11774	SAEC	small airway:	n/a
33	chr18:11855-11905	NT2-D1	testis:	n/a
34	chr18:11231-11281	HL-60	blood:	n/a
35	chr18:11855-11905	HCPEpiC	choroid plexus:	n/a
36	chr18:11855-11905	NHBE	bronchial:	n/a
37	chr18:12437-12487	AG09319	gingival:	n/a
38	chr18:11231-11281	Hela-S3	cervix:	n/a
39	chr18:11724-11774	Hepatocyte	liver:	n/a
40	chr18:12371-12421	GM06990	blood:	n/a
41	chr18:11231-11281	Jurkat	blood:	n/a
42	chr18:12437-12487	GM19239	blood:	n/a
43	chr18:12371-12421	ECC-1	luminal epithelium:	n/a
44	chr18:12437-12487	NHBE	bronchial:	n/a
45	chr18:11855-11905	LNCaP	prostate:	n/a
46	chr18:12437-12487	GM12878	blood:	n/a
47	chr18:11724-11774	GM06990	blood:	n/a
48	chr18:11231-11281	AG10803	skin:	n/a
49	chr18:12437-12487	HEK293	kidney:	embryo
50	chr18:11231-11281	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227727685..227728349-chr18:13120..13866,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-683L23.1.1-2	chr18:14195-14653	ENSG00000263305.1
2	lnc-RP11-683L23.1.1-2	chr18:14490-14653	ENSG00000263305.1
3	lnc-RP11-683L23.1.1-2	chr18:14851-14958	ENSG00000263305.1
4	lnc-RP11-683L23.1.1-2	chr18:14851-14870	XLOC_012737
5	lnc-RP11-683L23.1.1-2	chr18:14294-14653	XLOC_012737

Variant related genes	Relation type
ENSG00000263305	TF binding region
ENSG00000262352	TF binding region
ENSG00000263305	CpG island
ENSG00000262352	CpG island

Extended variants
information (count: 385 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536390251	chr18:10652-10653	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs112067749	chr18:10654-10655	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs72854246	chr18:10659-10660	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs554657516	chr18:10660-10661	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs566492364	chr18:10661-10662	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533744383	chr18:10662-10663	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs115858092	chr18:10665-10666	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs66578743	chr18:10679-10680	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs113507724	chr18:10683-10684	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs577517853	chr18:10684-10685	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs190828861	chr18:10690-10691	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs558568019	chr18:10693-10694	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs72854249	chr18:10697-10698	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs371428272	chr18:10698-10699	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs139482401	chr18:10701-10702	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs544169626	chr18:10704-10705	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs114463029	chr18:10706-10707	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs556371943	chr18:10717-10718	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs574502329	chr18:10719-10720	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs370183276	chr18:10723-10724	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs561011584	chr18:10732-10733	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs149661439	chr18:10733-10734	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs75343449	chr18:10736-10737	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs540258498	chr18:10739-10740	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs564918226	chr18:10741-10742	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs532878481	chr18:10743-10744	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs78360699	chr18:10749-10750	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs73360475	chr18:10755-10756	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550985930	chr18:10764-10765	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563098114	chr18:10769-10770	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs530200462	chr18:10770-10771	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs113980581	chr18:10774-10775	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs548329854	chr18:10777-10778	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs566603231	chr18:10780-10781	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs533860478	chr18:10785-10786	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs114285007	chr18:10794-10795	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs115877650	chr18:10796-10797	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs570351331	chr18:10799-10800	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs183004607	chr18:10805-10806	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs538146909	chr18:10812-10813	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs78342499	chr18:10813-10814	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs556145647	chr18:10822-10823	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs574589272	chr18:10839-10840	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs67291075	chr18:10841-10842	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs74700426	chr18:10842-10843	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs73942372	chr18:10847-10848	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs112999950	chr18:10849-10850	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs540316756	chr18:10851-10852	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs187386705	chr18:10854-10855	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs577116003	chr18:10856-10857	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	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
Schizophrenia	23813976	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8800-11200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:10000-11000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:10000-13600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:10400-11800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:10600-10800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr18:10600-10800	Flanking Active TSS	Placenta	Placenta
7	chr18:10600-11800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:10800-11200	Active TSS	Placenta	Placenta
9	chr18:10800-14000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:11200-11600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr18:11200-11800	Flanking Active TSS	Placenta	Placenta
12	chr18:11200-12000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr18:11200-12600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:11200-13600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:11200-14200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr18:11600-11800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr18:11800-12200	Enhancers	Placenta	Placenta
18	chr18:11800-12600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:12000-13400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr18:12600-13400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:13200-13400	Enhancers	Gastric	stomach
22	chr18:13800-14000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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