Variant report

Variant	esv3331699
Chromosome Location	chr18:24864438-25095929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:878)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:878 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:24871931-24872131	K562	blood:	n/a	n/a
2	ARID3A	chr18:24892165-24892317	K562	blood:	n/a	n/a
3	ATF1	chr18:24894949-24895177	K562	blood:	n/a	n/a
4	ATF1	chr18:24875993-24876076	K562	blood:	n/a	n/a
5	ATF1	chr18:24885366-24885493	K562	blood:	n/a	n/a
6	ATF1	chr18:24874465-24874649	K562	blood:	n/a	n/a
7	ATF1	chr18:24954083-24954161	K562	blood:	n/a	n/a
8	ATF1	chr18:24868595-24868598	K562	blood:	n/a	n/a
9	ATF1	chr18:24889251-24889607	K562	blood:	n/a	n/a
10	ATF1	chr18:25050948-25051253	K562	blood:	n/a	n/a
11	ATF1	chr18:24982163-24982172	K562	blood:	n/a	n/a
12	ATF1	chr18:24897831-24898217	K562	blood:	n/a	n/a
13	ATF1	chr18:25022305-25022445	K562	blood:	n/a	n/a
14	BACH1	chr18:25071917-25071941	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr18:25077720-25077810	K562	blood:	n/a	n/a
16	BACH1	chr18:24891540-24891651	K562	blood:	n/a	n/a
17	BACH1	chr18:25003448-25003451	K562	blood:	n/a	n/a
18	BATF	chr18:24958371-24958665	GM12878	blood:	n/a	n/a
19	BHLHE40	chr18:24868968-24869139	K562	blood:	n/a	n/a
20	BHLHE40	chr18:24893791-24893839	K562	blood:	n/a	n/a
21	BHLHE40	chr18:24958353-24958708	GM12878	blood:	n/a	n/a
22	BHLHE40	chr18:25042021-25042178	K562	blood:	n/a	n/a
23	BHLHE40	chr18:25028034-25028066	GM12878	blood:	n/a	n/a
24	CCNT2	chr18:24910086-24910358	K562	blood:	n/a	n/a
25	CCNT2	chr18:24877943-24878352	K562	blood:	n/a	n/a
26	CEBPB	chr18:24977211-24977474	HepG2	liver:	n/a	chr18:24977345-24977356
27	CEBPB	chr18:24944016-24944247	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr18:24991794-24991831	H1-hESC	embryonic stem cell:	n/a	chr18:24991796-24991807
29	CEBPB	chr18:24878324-24878647	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr18:24963736-24963936	A549	lung:	n/a	n/a
31	CEBPB	chr18:24947874-24948074	HepG2	liver:	n/a	chr18:24947918-24947929
32	CEBPB	chr18:24991657-24991903	HepG2	liver:	n/a	chr18:24991796-24991807
33	CEBPB	chr18:24963754-24963955	K562	blood:	n/a	n/a
34	CEBPB	chr18:24969942-24970015	HepG2	liver:	n/a	n/a
35	CEBPB	chr18:24868643-24868883	K562	blood:	n/a	n/a
36	CEBPB	chr18:24944047-24944233	HepG2	liver:	n/a	n/a
37	CHD2	chr18:24958420-24958738	GM12878	blood:	n/a	chr18:24958567-24958577
38	CHD2	chr18:25050236-25050311	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr18:25071836-25071868	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr18:24958290-24958703	GM12878	blood:	n/a	n/a
41	CTCF	chr18:24943960-24944110	HBMEC	blood vessel:	n/a	chr18:24944066-24944082 chr18:24944065-24944083 chr18:24944067-24944088 chr18:24944069-24944076
42	CTCF	chr18:24878518-24878674	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr18:24980080-24980230	GM12864	blood:	n/a	n/a
44	CTCF	chr18:24878401-24878740	K562	blood:	n/a	n/a
45	CTCF	chr18:24980040-24980190	GM12864	blood:	n/a	n/a
46	CTCF	chr18:24980037-24980218	HepG2	liver:	n/a	n/a
47	CTCF	chr18:24873020-24873170	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr18:24980060-24980210	GM12878	blood:	n/a	n/a
49	CTCF	chr18:25008180-25008330	AG09319	gingival:	n/a	n/a
50	CTCF	chr18:24980000-24980150	GM12870	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:24977247..24980260-chr18:24984681..24986773,3	K562	blood:
2	chr18:24973172..24976079-chr18:24978347..24981182,2	K562	blood:
3	chr18:25060579..25062895-chr18:25064603..25067042,2	K562	blood:
4	chr18:24943675..24944656-chr18:25178856..25179868,5	MCF-7	breast:
5	chr18:24943676..24944460-chr18:25007824..25008627,3	MCF-7	breast:
6	chr18:24943983..24944563-chr18:25178918..25179433,2	MCF-7	breast:
7	chr18:24973172..24976079-chr18:24978347..24981182,2	K562	blood:
8	chr18:25023772..25025471-chr18:25027335..25029107,2	K562	blood:
9	chr18:24905897..24907565-chr18:24911708..24913896,2	K562	blood:
10	chr18:24905897..24907565-chr18:24911708..24913896,2	K562	blood:
11	chr18:24954918..24958816-chr18:24960045..24962711,3	K562	blood:
12	chr18:25069473..25070359-chr5:103536312..103537041,2	MCF-7	breast:
13	chr18:24968333..24970148-chr18:24971946..24974816,2	K562	blood:
14	chr18:25023772..25025471-chr18:25027335..25029107,2	K562	blood:
15	chr18:25060579..25062895-chr18:25064603..25067042,2	K562	blood:
16	chr18:24597605..24598649-chr18:24878090..24879048,4	MCF-7	breast:
17	chr18:25045399..25047199-chr18:25047889..25050274,2	K562	blood:
18	chr18:24954918..24958816-chr18:24960045..24962711,3	K562	blood:
19	chr18:24962546..24965411-chr18:24970882..24973457,2	K562	blood:
20	chr18:24917748..24920423-chr18:24922458..24924248,2	K562	blood:
21	chr18:25045399..25047199-chr18:25047889..25050274,2	K562	blood:
22	chr18:24943676..24944460-chr18:25007824..25008627,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH2-2	chr18:24916657-24917151	ENSG00000264151.1
2	lnc-CHST9-3	chr18:24901014-24901106	l_1548_chr18:24901013-24919386_lung
3	lnc-CDH2-2	chr18:24918571-24918666	ENSG00000264151.1
4	lnc-CDH2-2	chr18:24920706-24921095	ENSG00000264151.1
5	lnc-TAF4B-6	chr18:24925335-24926074	ENSG00000264790.1
6	lnc-CHST9-4	chr18:24935370-24935728	NONHSAT058776
7	lnc-CDH2-2	chr18:25081643-25081829	ENSG00000264151.1
8	lnc-CDH2-2	chr18:24918571-24918743	ENSG00000264151.1
9	lnc-CDH2-2	chr18:24916955-24917151	ENSG00000264151.1
10	lnc-CHST9-3	chr18:24919252-24919386	l_1548_chr18:24901013-24919386_lung
11	lnc-CDH2-2	chr18:24922467-24922648	ENSG00000264151.1
12	lnc-CDH2-2	chr18:24954131-24954211	ENSG00000264151.1
13	lnc-CHST9-5	chr18:24999586-25000399	NONHSAT058778
14	lnc-CDH2-2	chr18:24918571-24918666	ENSG00000264151.1
15	lnc-CDH2-2	chr18:24916343-24917151	ENSG00000264151.1
16	lnc-CHST9-5	chr18:24998848-24999247	NONHSAT058778
17	lnc-TAF4B-6	chr18:24924185-24924306	ENSG00000264790.1
18	lnc-TAF4B-7	chr18:24981464-24981868	ENSG00000263611.1
19	lnc-TAF4B-7	chr18:24977916-24977949	ENSG00000263611.1
20	lnc-CDH2-2	chr18:24972748-24972831	ENSG00000264151.1
21	lnc-CDH2-2	chr18:24922467-24922654	ENSG00000264151.1
22	lnc-TAF4B-6	chr18:24923216-24923275	ENSG00000264790.1

No data

Variant related genes	Relation type
ENSG00000263611	TF binding region
ENSG00000264151	TF binding region
ENSG00000264790	TF binding region
PA2G4P3	TF binding region
RBM22P1	TF binding region
UBA52P9	TF binding region
ENSG00000264151	chromatin interactions
ENSG00000264790	chromatin interactions
ENSG00000263611	chromatin interactions

Extended variants
information (count: 3707 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3707 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28613016	chr18:24878239-24878240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542118001	chr18:24878243-24878244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4635410	chr18:24878287-24878288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4350648	chr18:24878325-24878326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs118033628	chr18:24878365-24878366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116690708	chr18:24878387-24878388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552685430	chr18:24878429-24878430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138611423	chr18:24878432-24878433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141620435	chr18:24878445-24878446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549976250	chr18:24878558-24878559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190655763	chr18:24878580-24878581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150735700	chr18:24878605-24878606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs118172629	chr18:24878677-24878678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79367002	chr18:24878741-24878742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182945763	chr18:24878779-24878780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368689344	chr18:24878838-24878839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566504769	chr18:24878848-24878849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62082165	chr18:24878891-24878892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576875334	chr18:24878893-24878894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544290594	chr18:24878914-24878915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139050919	chr18:24878988-24878989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574664858	chr18:24879022-24879023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186170855	chr18:24879065-24879066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555426105	chr18:24879097-24879098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12963635	chr18:24879123-24879124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540417892	chr18:24879217-24879218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190286334	chr18:24879240-24879241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149865859	chr18:24879251-24879252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34949369	chr18:24879259-24879260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565273221	chr18:24879272-24879273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114208151	chr18:24879301-24879302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144396366	chr18:24879345-24879346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141009853	chr18:24879370-24879371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568348847	chr18:24879466-24879467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144869640	chr18:24879487-24879488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547733972	chr18:24879570-24879571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534814309	chr18:24879613-24879614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566248930	chr18:24879651-24879652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540084693	chr18:24879678-24879679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371249099	chr18:24879697-24879698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558283897	chr18:24879707-24879708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570401414	chr18:24879717-24879718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537968194	chr18:24879733-24879734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147923822	chr18:24879738-24879739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574731808	chr18:24879811-24879812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377538901	chr18:24879881-24879882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577123974	chr18:24879889-24879890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1714636	chr18:24879908-24879909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138988640	chr18:24879942-24879943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572262869	chr18:24879962-24879963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	19651600	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24878200-24878400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:24878200-24878600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr18:24878200-24878600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr18:24878200-24878800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr18:24878400-24878600	Enhancers	Liver	Liver
6	chr18:24878400-24882000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:24878600-24881600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr18:24878800-24881600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr18:24881400-24881800	Enhancers	Brain Germinal Matrix	brain
10	chr18:24881400-24882400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr18:24881600-24882000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr18:24881600-24882000	Enhancers	Brain Hippocampus Middle	brain
13	chr18:24881600-24882200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr18:24881600-24882400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr18:24881600-24882400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:24881600-24882400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr18:24881800-24882200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:24881800-24882400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:24882000-24882200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:24882000-24882400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:24882000-24882400	Enhancers	Brain Cingulate Gyrus	brain
22	chr18:24882000-24882400	Enhancers	Brain Substantia Nigra	brain
23	chr18:24890600-24891000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr18:24892200-24894200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr18:24892400-24893400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:24895000-24895600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr18:24901600-24902000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr18:24902400-24902800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr18:24902600-24903000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr18:24913200-24913600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr18:24913200-24913800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr18:24919200-24919400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr18:24919400-24920000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr18:24919400-24920400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:24920000-24920600	Enhancers	Brain Germinal Matrix	brain
36	chr18:24920400-24921200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:24925400-24925600	Enhancers	Spleen	Spleen
38	chr18:24932200-24932800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:24943400-24944000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:24943400-24944000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:24944000-24946400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr18:24945400-24946600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr18:24945600-24946800	Enhancers	Adipose Nuclei	Adipose
44	chr18:24946400-24949000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr18:24949000-24958200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr18:24950400-24951600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr18:24953200-24954600	Weak transcription	Psoas Muscle	Psoas
48	chr18:24956400-24959200	Enhancers	HMEC	breast
49	chr18:24956600-24959200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr18:24956800-24959000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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