Variant report

Variant	esv3343386
Chromosome Location	chr18:12093552-12095950
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	CHD2	chr18:12093598-12093600	K562	blood:	n/a	n/a
2	CHD2	chr18:12093592-12093640	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr18:12093589-12093664	MCF-7	breast:	n/a	chr18:12093600-12093613
4	CTCF	chr18:12093451-12093823	K562	blood:	n/a	chr18:12093600-12093613 chr18:12093735-12093751 chr18:12093736-12093749
5	CTCF	chr18:12093500-12093678	K562	blood:	n/a	chr18:12093600-12093613
6	CTCF	chr18:12093540-12093690	WERI-Rb-1	eye:	n/a	chr18:12093600-12093613
7	CTCF	chr18:12093566-12093605	GM10266	blood:	n/a	n/a
8	CTCF	chr18:12093412-12093782	K562	blood:	n/a	chr18:12093600-12093613 chr18:12093735-12093751 chr18:12093736-12093749
9	CTCF	chr18:12093560-12093710	HEK293	kidney:	n/a	chr18:12093600-12093613
10	CTCF	chr18:12093453-12093685	H1-hESC	embryonic stem cell:	n/a	chr18:12093600-12093613
11	CTCF	chr18:12093540-12093690	GM12868	blood:	n/a	chr18:12093600-12093613
12	CTCF	chr18:12093496-12093802	H1-hESC	embryonic stem cell:	n/a	chr18:12093600-12093613 chr18:12093735-12093751 chr18:12093736-12093749
13	CTCF	chr18:12093495-12093786	H1-hESC	embryonic stem cell:	n/a	chr18:12093600-12093613 chr18:12093735-12093751 chr18:12093736-12093749
14	CTCF	chr18:12093580-12093730	K562	blood:	n/a	chr18:12093600-12093613
15	CTCF	chr18:12093540-12093690	K562	blood:	n/a	chr18:12093600-12093613
16	CTCF	chr18:12093632-12093636	MCF-7	breast:	n/a	n/a
17	CTCF	chr18:12093580-12093730	WERI-Rb-1	eye:	n/a	chr18:12093600-12093613
18	CTCF	chr18:12093520-12093670	GM12865	blood:	n/a	chr18:12093600-12093613
19	CTCF	chr18:12093540-12093690	NHEK	skin:	n/a	chr18:12093600-12093613
20	CTCF	chr18:12093580-12093730	Hela-S3	cervix:	n/a	chr18:12093600-12093613
21	CTCF	chr18:12093475-12093697	K562	blood:	n/a	chr18:12093600-12093613
22	CTCF	chr18:12093600-12093630	MCF-7	breast:	n/a	chr18:12093600-12093613
23	E2F6	chr18:12093532-12094112	H1-hESC	embryonic stem cell:	n/a	chr18:12093663-12093672 chr18:12093698-12093707 chr18:12093819-12093828 chr18:12093603-12093613
24	E2F6	chr18:12093531-12093884	K562	blood:	n/a	chr18:12093663-12093672 chr18:12093698-12093707 chr18:12093819-12093828 chr18:12093603-12093613
25	E2F6	chr18:12093521-12093989	H1-hESC	embryonic stem cell:	n/a	chr18:12093663-12093672 chr18:12093698-12093707 chr18:12093819-12093828 chr18:12093603-12093613
26	MAX	chr18:12093514-12094108	H1-hESC	embryonic stem cell:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093699-12093709 chr18:12093741-12093750
27	MAX	chr18:12093702-12093890	K562	blood:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093741-12093750
28	MAX	chr18:12093462-12093981	K562	blood:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093699-12093709 chr18:12093741-12093750
29	MAX	chr18:12093541-12094002	H1-hESC	embryonic stem cell:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093699-12093709 chr18:12093741-12093750
30	MAX	chr18:12093712-12093909	K562	blood:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093741-12093750
31	MAX	chr18:12093588-12093918	H1-hESC	embryonic stem cell:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093699-12093709 chr18:12093741-12093750
32	MAZ	chr18:12093751-12093781	K562	blood:	n/a	n/a
33	MYC	chr18:12093649-12093921	K562	blood:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093699-12093709 chr18:12093741-12093750
34	MYC	chr18:12093601-12093819	K562	blood:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093699-12093709 chr18:12093741-12093750
35	MYC	chr18:12093723-12093917	K562	blood:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093741-12093750
36	RAD21	chr18:12093492-12093686	H1-hESC	embryonic stem cell:	n/a	chr18:12093599-12093613
37	RAD21	chr18:12093477-12093841	H1-hESC	embryonic stem cell:	n/a	chr18:12093702-12093714 chr18:12093736-12093750 chr18:12093737-12093756 chr18:12093738-12093752 chr18:12093599-12093613
38	RAD21	chr18:12093460-12093712	H1-hESC	embryonic stem cell:	n/a	chr18:12093599-12093613
39	ZNF143	chr18:12093489-12093650	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZNF143	chr18:12095402-12095437	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12093809-12093859	U87	brain:	n/a
2	chr18:12095187-12095237	Hela-S3	cervix:	n/a
3	chr18:12095187-12095237	HRCEpiC	kidney:	n/a
4	chr18:12095187-12095237	ProgFib	skin:	n/a
5	chr18:12093625-12093675	Hela-S3	cervix:	n/a
6	chr18:12095187-12095237	CMK	blood:	n/a
7	chr18:12093809-12093859	CMK	blood:	n/a
8	chr18:12093809-12093859	HCF	heart:	n/a
9	chr18:12093625-12093675	AG09319	gingival:	n/a
10	chr18:12093625-12093675	CMK	blood:	n/a
11	chr18:12093809-12093859	Jurkat	blood:	n/a
12	chr18:12093625-12093675	GM12878	blood:	n/a
13	chr18:12095187-12095237	GM06990	blood:	n/a
14	chr18:12095187-12095237	SKMC	muscle:	n/a
15	chr18:12093809-12093859	K562	blood:	n/a
16	chr18:12095187-12095237	Caco-2	colon:	n/a
17	chr18:12093809-12093859	AG09309	skin:	n/a
18	chr18:12093809-12093859	SKMC	muscle:	n/a
19	chr18:12093809-12093859	PFSK-1	brain:	n/a
20	chr18:12093809-12093859	HRE	kidney:	n/a
21	chr18:12095187-12095237	HUVEC	blood vessel:	n/a
22	chr18:12095187-12095237	PANC-1	pancreas:	n/a
23	chr18:12093809-12093859	BE2_C	brain:	n/a
24	chr18:12093809-12093859	GM19239	blood:	n/a
25	chr18:12093625-12093675	AG09309	skin:	n/a
26	chr18:12093625-12093675	A549	lung:	n/a
27	chr18:12095187-12095237	IMR90	lung:	fetal
28	chr18:12093625-12093675	K562	blood:	n/a
29	chr18:12093625-12093675	PFSK-1	brain:	n/a
30	chr18:12095187-12095237	HAEpiC	amniotic membrane:	n/a
31	chr18:12093625-12093675	HAEpiC	amniotic membrane:	n/a
32	chr18:12095187-12095237	SK-N-SH_RA	brain:	n/a
33	chr18:12095187-12095237	SK-N-SH	brain:	n/a
34	chr18:12095187-12095237	HCT-116	colon:	n/a
35	chr18:12093625-12093675	HCM	heart:	n/a
36	chr18:12095187-12095237	HNPCEpiC	eye:	n/a
37	chr18:12093625-12093675	HRPEpiC	eye:	n/a
38	chr18:12093625-12093675	LNCaP	prostate:	n/a
39	chr18:12093809-12093859	SAEC	small airway:	n/a
40	chr18:12093625-12093675	Caco-2	colon:	n/a
41	chr18:12095187-12095237	NT2-D1	testis:	n/a
42	chr18:12093625-12093675	HL-60	blood:	n/a
43	chr18:12093809-12093859	HL-60	blood:	n/a
44	chr18:12093809-12093859	Hela-S3	cervix:	n/a
45	chr18:12093625-12093675	Hepatocyte	liver:	n/a
46	chr18:12093809-12093859	HCM	heart:	n/a
47	chr18:12093809-12093859	ProgFib	skin:	n/a
48	chr18:12095187-12095237	AG09319	gingival:	n/a
49	chr18:12095187-12095237	HIPEpiC	eye:	n/a
50	chr18:12093809-12093859	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12094191..12096366-chr18:12113967..12116717,2	MCF-7	breast:
2	chr18:12094117..12094711-chr18:12236525..12237062,2	K562	blood:
3	chr18:12092426..12095170-chr18:12097480..12099654,2	K562	blood:

Variant related genes	Relation type
ANKRD62	TF binding region
RNU6-324P	TF binding region
ENSG00000267478	TF binding region
ANKRD62	CpG island
RNU6-324P	CpG island
ENSG00000267478	CpG island
ENSG00000200827	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576237953	chr18:12093569-12093570	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs543103753	chr18:12093590-12093591	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs201486188	chr18:12093629-12093630	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs116383702	chr18:12093647-12093648	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs112139542	chr18:12093703-12093704	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs576414835	chr18:12093705-12093706	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs193051961	chr18:12093721-12093722	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs559323254	chr18:12093743-12093744	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs529902685	chr18:12093791-12093792	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs542119244	chr18:12093820-12093821	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs72879124	chr18:12093837-12093838	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376857567	chr18:12093849-12093850	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs530775605	chr18:12093873-12093874	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs185078731	chr18:12093880-12093881	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs550273431	chr18:12093934-12093935	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs73947269	chr18:12093954-12093955	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532665926	chr18:12093955-12093956	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs547445061	chr18:12093958-12093959	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs141168537	chr18:12093964-12093965	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs187628951	chr18:12093982-12093983	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs9964971	chr18:12094006-12094007	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs11664969	chr18:12094031-12094032	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs569912186	chr18:12094033-12094034	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs200745335	chr18:12094088-12094089	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs146930067	chr18:12094114-12094115	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558742310	chr18:12094118-12094119	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192488571	chr18:12094119-12094120	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs114139820	chr18:12094127-12094128	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552655696	chr18:12094157-12094158	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574417421	chr18:12094198-12094199	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs541758498	chr18:12094270-12094271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371274749	chr18:12094331-12094332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185103885	chr18:12094393-12094394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188103148	chr18:12094480-12094481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112916690	chr18:12094487-12094488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs28481291	chr18:12094547-12094548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182855529	chr18:12094602-12094603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs28545800	chr18:12094620-12094621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563599829	chr18:12094696-12094697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs118125524	chr18:12094810-12094811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564550669	chr18:12094924-12094925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs371173273	chr18:12094930-12094931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150146663	chr18:12094940-12094941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532602819	chr18:12094973-12094974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs75016272	chr18:12094991-12094992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565925393	chr18:12095003-12095004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184749219	chr18:12095086-12095087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548585452	chr18:12095087-12095088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569980687	chr18:12095109-12095110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537370689	chr18:12095112-12095113	Weak transcription	Chromatin interactive region	1 gene(s)	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12077000-12095000	Weak transcription	Right Atrium	heart
2	chr18:12089000-12093800	Weak transcription	Spleen	Spleen
3	chr18:12091200-12094000	Enhancers	Esophagus	oesophagus
4	chr18:12093000-12094200	Enhancers	Placenta	Placenta
5	chr18:12093200-12093800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:12093200-12093800	Weak transcription	Pancreas	Pancrea
7	chr18:12093800-12094000	Genic enhancers	Pancreas	Pancrea
8	chr18:12093800-12094200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:12093800-12094200	ZNF genes & repeats	Spleen	Spleen
10	chr18:12094000-12095400	Weak transcription	Pancreas	Pancrea
11	chr18:12095400-12096000	Active TSS	Fetal Brain Male	brain
12	chr18:12095400-12096000	Enhancers	Pancreas	Pancrea

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