Variant report

Variant	esv3405647
Chromosome Location	chr18:12085552-12090750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr18:12090640-12090795	HepG2	liver:	n/a	n/a
2	CEBPB	chr18:12087914-12087930	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr18:12086223-12086412	HepG2	liver:	n/a	n/a
4	CEBPB	chr18:12086123-12086565	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr18:12086183-12086554	MCF-7	breast:	n/a	n/a
6	CEBPB	chr18:12086202-12086530	ECC-1	luminal epithelium:	n/a	n/a
7	CHD2	chr18:12087795-12087986	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr18:12086349-12086675	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr18:12086807-12086919	K562	blood:	n/a	n/a
10	CTCF	chr18:12085148-12085581	K562	blood:	n/a	n/a
11	CTCF	chr18:12086780-12086930	HepG2	liver:	n/a	n/a
12	CTCF	chr18:12085557-12085639	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr18:12086791-12086929	K562	blood:	n/a	n/a
14	CTCF	chr18:12086804-12086931	A549	lung:	n/a	n/a
15	CTCF	chr18:12086280-12086430	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr18:12086128-12086236	MCF-7	breast:	n/a	chr18:12086159-12086177
17	CTCF	chr18:12086800-12086950	Hela-S3	cervix:	n/a	chr18:12086936-12086949
18	CTCF	chr18:12086822-12086955	H1-hESC	embryonic stem cell:	n/a	chr18:12086936-12086949
19	CTCF	chr18:12086820-12086970	Hela-S3	cervix:	n/a	chr18:12086936-12086949
20	CTCF	chr18:12086626-12086957	K562	blood:	n/a	chr18:12086936-12086949
21	CTCF	chr18:12086760-12086910	NHEK	skin:	n/a	n/a
22	CTCF	chr18:12086706-12086922	K562	blood:	n/a	n/a
23	CTCF	chr18:12086747-12086984	Hela-S3	cervix:	n/a	chr18:12086936-12086949
24	CTCF	chr18:12085573-12085598	MCF-7	breast:	n/a	n/a
25	CTCF	chr18:12086770-12086965	HepG2	liver:	n/a	chr18:12086936-12086949
26	CTCF	chr18:12086080-12086230	NHEK	skin:	n/a	chr18:12086159-12086177
27	CTCF	chr18:12086820-12086970	K562	blood:	n/a	chr18:12086936-12086949
28	CTCF	chr18:12086760-12086910	K562	blood:	n/a	n/a
29	CTCF	chr18:12086306-12086426	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr18:12086797-12086939	HepG2	liver:	n/a	n/a
31	CTCF	chr18:12086146-12086202	Hela-S3	cervix:	n/a	chr18:12086159-12086177
32	CTCF	chr18:12086810-12086932	MCF-7	breast:	n/a	n/a
33	FOS	chr18:12086205-12086352	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr18:12086198-12086398	MCF10A-Er-Src	breast:	n/a	n/a
35	JUN	chr18:12090571-12090882	HepG2	liver:	n/a	chr18:12090767-12090780 chr18:12090741-12090754
36	JUND	chr18:12090576-12090916	HepG2	liver:	n/a	n/a
37	MAX	chr18:12086748-12086807	HepG2	liver:	n/a	n/a
38	MAX	chr18:12086134-12086783	Hela-S3	cervix:	n/a	n/a
39	MAX	chr18:12087736-12087939	Hela-S3	cervix:	n/a	n/a
40	MAX	chr18:12088822-12089022	Hela-S3	cervix:	n/a	n/a
41	MAZ	chr18:12087365-12087602	Hela-S3	cervix:	n/a	n/a
42	MAZ	chr18:12087906-12088179	Hela-S3	cervix:	n/a	n/a
43	MAZ	chr18:12086204-12086911	Hela-S3	cervix:	n/a	n/a
44	MAZ	chr18:12088713-12088735	Hela-S3	cervix:	n/a	n/a
45	MYC	chr18:12086917-12086921	MCF-7	breast:	n/a	n/a
46	MYC	chr18:12086123-12086574	MCF10A-Er-Src	breast:	n/a	n/a
47	MYC	chr18:12086240-12086541	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr18:12086251-12086394	MCF-7	breast:	n/a	n/a
49	MYC	chr18:12086435-12086448	MCF-7	breast:	n/a	n/a
50	MYC	chr18:12086395-12086398	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12090210-12090260	HCT-116	colon:	n/a
2	chr18:12090210-12090260	HNPCEpiC	eye:	n/a
3	chr18:12090210-12090260	GM06990	blood:	n/a
4	chr18:12090210-12090260	ProgFib	skin:	n/a
5	chr18:12090210-12090260	PFSK-1	brain:	n/a
6	chr18:12090210-12090260	NB4	blood:	n/a
7	chr18:12090210-12090260	HepG2	liver:	n/a
8	chr18:12090210-12090260	PrEC	prostate:	n/a
9	chr18:12090210-12090260	HRPEpiC	eye:	n/a
10	chr18:12090210-12090260	HEEpiC	esophagus:	n/a
11	chr18:12090210-12090260	SK-N-SH	brain:	n/a
12	chr18:12090210-12090260	Hepatocyte	liver:	n/a
13	chr18:12090210-12090260	HIPEpiC	eye:	n/a
14	chr18:12090210-12090260	MCF10A-Er-Src	breast:	n/a
15	chr18:12090210-12090260	HPAEpiC	pulmonary alveolar:	n/a
16	chr18:12090210-12090260	HEK293	kidney:	embryo
17	chr18:12090210-12090260	GM12878	blood:	n/a
18	chr18:12090210-12090260	Jurkat	blood:	n/a
19	chr18:12090210-12090260	ECC-1	luminal epithelium:	n/a
20	chr18:12090210-12090260	GM19239	blood:	n/a
21	chr18:12090210-12090260	SK-N-SH_RA	brain:	n/a
22	chr18:12090210-12090260	RPTEC	kidney:	n/a
23	chr18:12090210-12090260	AG04449	skin:	fetal
24	chr18:12090210-12090260	LNCaP	prostate:	n/a
25	chr18:12090210-12090260	NHDF-neo	bronchial:	n/a
26	chr18:12090210-12090260	AG10803	skin:	n/a
27	chr18:12090210-12090260	GM12892	blood:	n/a
28	chr18:12090210-12090260	HUVEC	blood vessel:	n/a
29	chr18:12090210-12090260	HCF	heart:	n/a
30	chr18:12090210-12090260	A549	lung:	n/a
31	chr18:12090210-12090260	HL-60	blood:	n/a
32	chr18:12090210-12090260	AG09319	gingival:	n/a
33	chr18:12090210-12090260	NT2-D1	testis:	n/a
34	chr18:12090210-12090260	HCPEpiC	choroid plexus:	n/a
35	chr18:12090210-12090260	T-47D	breast:	n/a
36	chr18:12090210-12090260	HMEC	breast:	n/a
37	chr18:12090210-12090260	ovcar-3	ovarian:	n/a
38	chr18:12090210-12090260	CMK	blood:	n/a
39	chr18:12090210-12090260	BJ	skin:	n/a
40	chr18:12090210-12090260	U87	brain:	n/a
41	chr18:12090210-12090260	BE2_C	brain:	n/a
42	chr18:12090210-12090260	K562	blood:	n/a
43	chr18:12090210-12090260	H1-hESC	embryonic stem cell:	embryo
44	chr18:12090210-12090260	AG09309	skin:	n/a
45	chr18:12090210-12090260	NH-A	brain:	n/a
46	chr18:12090210-12090260	GM12891	blood:	n/a
47	chr18:12090210-12090260	HRCEpiC	kidney:	n/a
48	chr18:12090210-12090260	Caco-2	colon:	n/a
49	chr18:12090210-12090260	AoSMC	blood vessel:	n/a
50	chr18:12090210-12090260	MCF-7	breast:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12088519..12091150-chr18:12096385..12097943,2	K562	blood:
2	chr18:12084453..12086286-chr18:12088021..12090033,2	K562	blood:
3	chr18:12084453..12086286-chr18:12088021..12090033,2	K562	blood:

No data

Variant related genes	Relation type
ANKRD62	TF binding region
ANKRD62	CpG island

Extended variants
information (count: 266 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529295960	chr18:12085554-12085555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12455916	chr18:12085561-12085562	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563226473	chr18:12085568-12085569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555347257	chr18:12085583-12085584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376248817	chr18:12085587-12085588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533348520	chr18:12085610-12085611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551970445	chr18:12085617-12085618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376559543	chr18:12085619-12085620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567094983	chr18:12085635-12085636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533827457	chr18:12085668-12085669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549111237	chr18:12085670-12085671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181383575	chr18:12085671-12085672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112649724	chr18:12085674-12085675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556160168	chr18:12085694-12085695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577899763	chr18:12085714-12085715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538569032	chr18:12085717-12085718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553521985	chr18:12085722-12085723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571912580	chr18:12085733-12085734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372490692	chr18:12085771-12085772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540288067	chr18:12085780-12085781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573579259	chr18:12085785-12085786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186933069	chr18:12085811-12085812	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540994247	chr18:12085874-12085875	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs191774009	chr18:12085916-12085917	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544629814	chr18:12085923-12085924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183871246	chr18:12085924-12085925	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs113546094	chr18:12086001-12086002	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533649391	chr18:12086011-12086012	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs552109365	chr18:12086023-12086024	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs73408628	chr18:12086024-12086025	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs202197428	chr18:12086026-12086027	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs527931539	chr18:12086040-12086041	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs147410029	chr18:12086043-12086044	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186609168	chr18:12086048-12086049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs377747942	chr18:12086074-12086075	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs543517924	chr18:12086200-12086201	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs370045036	chr18:12086201-12086202	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs373784883	chr18:12086202-12086203	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs373008251	chr18:12086204-12086205	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs567381203	chr18:12086233-12086234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs201876724	chr18:12086257-12086258	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs386801340	chr18:12086258-12086259	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs60755330	chr18:12086259-12086260	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs57681673	chr18:12086263-12086264	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571174668	chr18:12086264-12086265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs538499698	chr18:12086287-12086288	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs553659350	chr18:12086400-12086401	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs188817008	chr18:12086433-12086434	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs76721040	chr18:12086454-12086455	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs536071239	chr18:12086455-12086456	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Melanoma	18172304	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
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12076800-12085800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:12077000-12095000	Weak transcription	Right Atrium	heart
3	chr18:12082600-12090200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr18:12085200-12088800	Enhancers	Esophagus	oesophagus
5	chr18:12085400-12089600	Enhancers	Pancreas	Pancrea
6	chr18:12085600-12085800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr18:12085600-12087600	Enhancers	Duodenum Mucosa	Duodenum
8	chr18:12085600-12088600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr18:12085800-12086200	Enhancers	Hela-S3	cervix
10	chr18:12085800-12086800	Enhancers	Fetal Muscle Trunk	muscle
11	chr18:12085800-12086800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr18:12085800-12087000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:12085800-12088200	Enhancers	Colonic Mucosa	Colon
14	chr18:12085800-12089000	Enhancers	Stomach Mucosa	stomach
15	chr18:12086000-12086400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr18:12086000-12087000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr18:12086200-12087200	Enhancers	Gastric	stomach
18	chr18:12086200-12088400	Flanking Active TSS	Hela-S3	cervix
19	chr18:12086400-12086600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr18:12086400-12086800	Enhancers	HMEC	breast
21	chr18:12086400-12087600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr18:12086400-12087600	Enhancers	Right Ventricle	heart
23	chr18:12086400-12087800	Enhancers	Lung	lung
24	chr18:12086600-12087200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr18:12086600-12089000	Enhancers	Spleen	Spleen
26	chr18:12086800-12088800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr18:12087000-12088200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:12087000-12089400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr18:12087000-12089600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr18:12087200-12087400	Flanking Active TSS	Gastric	stomach
31	chr18:12087200-12089400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr18:12087400-12087800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:12087400-12087800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr18:12087400-12087800	Enhancers	Gastric	stomach
35	chr18:12087600-12088600	Weak transcription	Right Ventricle	heart
36	chr18:12087600-12089000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr18:12087800-12088000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr18:12087800-12088200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:12087800-12088200	Genic enhancers	Gastric	stomach
40	chr18:12087800-12089200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr18:12088200-12088600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:12088200-12088800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr18:12088200-12089200	Enhancers	Gastric	stomach
44	chr18:12088200-12089400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr18:12088400-12089600	Enhancers	Hela-S3	cervix
46	chr18:12088600-12089400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr18:12088600-12089400	Enhancers	Right Ventricle	heart
48	chr18:12088800-12089000	Flanking Active TSS	Esophagus	oesophagus
49	chr18:12088800-12089200	Enhancers	Left Ventricle	heart
50	chr18:12089000-12089200	Enhancers	Duodenum Mucosa	Duodenum

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