Variant report

Variant	esv3495922
Chromosome Location	chr18:25871769-26363806
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	chr18:26039580-26039935	HepG2	liver:	n/a	n/a
2	ATF1	chr18:26205748-26205756	K562	blood:	n/a	n/a
3	ATF1	chr18:26146105-26146128	K562	blood:	n/a	n/a
4	BACH1	chr18:26106315-26106374	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr18:25895106-25895114	K562	blood:	n/a	n/a
6	BATF	chr18:26090193-26090532	GM12878	blood:	n/a	n/a
7	BATF	chr18:26090253-26090508	GM12878	blood:	n/a	n/a
8	BHLHE40	chr18:25903711-25903740	GM12878	blood:	n/a	n/a
9	BHLHE40	chr18:25962456-25962656	GM12878	blood:	n/a	n/a
10	BHLHE40	chr18:26347995-26348173	GM12878	blood:	n/a	n/a
11	BHLHE40	chr18:26092388-26092623	GM12878	blood:	n/a	n/a
12	BHLHE40	chr18:25925935-25925938	GM12878	blood:	n/a	n/a
13	BRCA1	chr18:25944998-25945638	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr18:26164591-26164612	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr18:26105973-26106296	HepG2	liver:	n/a	chr18:26106138-26106149
16	CEBPB	chr18:26315648-26315942	A549	lung:	n/a	n/a
17	CEBPB	chr18:26351899-26352085	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr18:26118630-26118978	HepG2	liver:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
19	CEBPB	chr18:26351847-26352123	A549	lung:	n/a	n/a
20	CEBPB	chr18:26074120-26074455	IMR90	lung:	n/a	n/a
21	CEBPB	chr18:26173988-26174314	IMR90	lung:	n/a	n/a
22	CEBPB	chr18:26351853-26352161	HepG2	liver:	n/a	n/a
23	CEBPB	chr18:26335612-26335828	HepG2	liver:	n/a	n/a
24	CEBPB	chr18:26039525-26039896	IMR90	lung:	n/a	chr18:26039705-26039716
25	CEBPB	chr18:26324497-26324739	K562	blood:	n/a	chr18:26324603-26324614 chr18:26324602-26324615 chr18:26324602-26324613
26	CEBPB	chr18:25945129-25945379	K562	blood:	n/a	chr18:25945207-25945218
27	CEBPB	chr18:26039510-26039891	HepG2	liver:	n/a	chr18:26039705-26039716
28	CEBPB	chr18:26039578-26039864	K562	blood:	n/a	chr18:26039705-26039716
29	CEBPB	chr18:25939088-25939517	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr18:26118713-26118945	A549	lung:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
31	CEBPB	chr18:26296502-26296999	HepG2	liver:	n/a	chr18:26296815-26296826
32	CEBPB	chr18:26083965-26084411	Hela-S3	cervix:	n/a	chr18:26084168-26084179
33	CEBPB	chr18:25945048-25945558	A549	lung:	n/a	chr18:25945207-25945218
34	CEBPB	chr18:26039605-26039854	HepG2	liver:	n/a	chr18:26039705-26039716
35	CEBPB	chr18:26128656-26128963	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr18:26169002-26169486	HepG2	liver:	n/a	chr18:26169315-26169326
37	CEBPB	chr18:26118710-26118909	K562	blood:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
38	CEBPB	chr18:25945044-25945388	IMR90	lung:	n/a	chr18:25945207-25945218
39	CEBPB	chr18:26084027-26084327	HepG2	liver:	n/a	chr18:26084168-26084179
40	CEBPB	chr18:26347941-26348263	IMR90	lung:	n/a	chr18:26348101-26348114
41	CEBPB	chr18:26296267-26297105	Hela-S3	cervix:	n/a	chr18:26296815-26296826 chr18:26296483-26296494 chr18:26297014-26297025
42	CEBPB	chr18:26118704-26118944	H1-hESC	embryonic stem cell:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
43	CEBPB	chr18:26084027-26084227	H1-hESC	embryonic stem cell:	n/a	chr18:26084168-26084179
44	CEBPB	chr18:26168872-26169500	IMR90	lung:	n/a	chr18:26169315-26169326
45	CEBPB	chr18:26285197-26285409	H1-hESC	embryonic stem cell:	n/a	chr18:26285282-26285293 chr18:26285281-26285294 chr18:26285281-26285292
46	CEBPB	chr18:26074097-26074596	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr18:26118693-26118944	IMR90	lung:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
48	CEBPB	chr18:26159160-26159487	ECC-1	luminal epithelium:	n/a	n/a
49	CEBPB	chr18:26164029-26164374	IMR90	lung:	n/a	chr18:26164180-26164191
50	CEBPB	chr18:26084036-26084319	IMR90	lung:	n/a	chr18:26084168-26084179

No.	Distal block	Cell Line	Cell type
1	chr18:26305149..26308106-chr18:26312214..26313833,2	K562	blood:
2	chr18:26256974..26259846-chr18:26260103..26261612,2	MCF-7	breast:
3	chr18:26353910..26355547-chr18:26403043..26404666,2	K562	blood:
4	chr18:25880886..25883831-chr18:25892198..25894875,2	K562	blood:
5	chr18:26187575..26188075-chr8:126441565..126442226,2	NB4	blood:
6	chr18:26305149..26308106-chr18:26312214..26313833,2	K562	blood:
7	chr18:25939437..25941053-chr18:25942676..25945665,2	K562	blood:
8	chr18:25992389..25993937-chr18:25994424..25996970,2	K562	blood:
9	chr18:25894603..25896717-chr18:25898629..25900371,2	K562	blood:
10	chr18:26166125..26168541-chr18:26170302..26173109,2	K562	blood:
11	chr18:25939437..25941053-chr18:25942676..25945665,2	K562	blood:
12	chr18:25992389..25993937-chr18:25994424..25996970,2	K562	blood:
13	chr18:26236619..26238521-chr18:26285928..26287438,2	MCF-7	breast:
14	chr18:26266596..26267158-chr5:177579778..177580694,2	MCF-7	breast:
15	chr18:26166125..26168541-chr18:26170302..26173109,2	K562	blood:
16	chr18:25880886..25883831-chr18:25892198..25894875,2	K562	blood:
17	chr18:26256974..26259846-chr18:26260103..26261612,2	MCF-7	breast:
18	chr1:214432183..214432843-chr18:26269660..26270520,2	MCF-7	breast:
19	chr18:25894603..25896717-chr18:25898629..25900371,2	K562	blood:
20	chr18:26236619..26238521-chr18:26285928..26287438,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH2-5	chr18:25991303-25991564	l_1549_chr18:25991302-26009984_testes
2	lnc-CDH2-5	chr18:26009704-26009984	l_1549_chr18:25991302-26009984_testes

Variant related genes	Relation type
ARIH2P1	TF binding region
ENSG00000265994	TF binding region
ENSG00000145912	chromatin interactions

Extended variants
information (count: 8054 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:8054 , 50 per page) page: 1 2 3 4 5 6 7 ... 162

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147348882	chr18:25898015-25898016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534539471	chr18:25898024-25898025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558952175	chr18:25898059-25898060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577316364	chr18:25898079-25898080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544691913	chr18:25898148-25898149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9967117	chr18:25898156-25898157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189521513	chr18:25898157-25898158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542433685	chr18:25898209-25898210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373727672	chr18:25898276-25898277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182225760	chr18:25898305-25898306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540143904	chr18:25898318-25898319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564493338	chr18:25898336-25898337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532000939	chr18:25898345-25898346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577232710	chr18:25898356-25898357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186874440	chr18:25898396-25898397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28361780	chr18:25904420-25904421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181068376	chr18:25904463-25904464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550883648	chr18:25904475-25904476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569443039	chr18:25904550-25904551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186491079	chr18:25904653-25904654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548921222	chr18:25904742-25904743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567206392	chr18:25904745-25904746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191319342	chr18:25904778-25904779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555698004	chr18:25904780-25904781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534163505	chr18:25904815-25904816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11564361	chr18:25904868-25904869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs182952098	chr18:25904909-25904910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62102156	chr18:25904930-25904931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs199715918	chr18:25904938-25904939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538348179	chr18:25904953-25904954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556834891	chr18:25904977-25904978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553632505	chr18:25905071-25905072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28361781	chr18:25905104-25905105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542481853	chr18:25905133-25905134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369835281	chr18:25905150-25905151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139466229	chr18:25905355-25905356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545592662	chr18:25905391-25905392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187414856	chr18:25905422-25905423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75263068	chr18:25905456-25905457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550654130	chr18:25905479-25905480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562913328	chr18:25905483-25905484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576049575	chr18:25905505-25905506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530298610	chr18:25905529-25905530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548827779	chr18:25905530-25905531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190691424	chr18:25905553-25905554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17470613	chr18:25905564-25905565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534536583	chr18:25905565-25905566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552563034	chr18:25905582-25905583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200009693	chr18:25905622-25905623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183231557	chr18:25905623-25905624	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Colorectal cancer	16272173	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
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
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:874 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25898000-25898400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:25904400-25906000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:25908600-25909400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:25909000-25910000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr18:25909400-25909800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr18:25909800-25910600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr18:25910000-25912000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:25910600-25911800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:25911200-25912400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:25911200-25912400	Enhancers	Fetal Heart	heart
11	chr18:25911600-25912400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:25911600-25913000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:25911800-25913000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:25912000-25912400	Active TSS	Brain Angular Gyrus	brain
15	chr18:25912000-25912400	Active TSS	Brain Cingulate Gyrus	brain
16	chr18:25912000-25913000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr18:25912200-25912800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr18:25912400-25912800	Weak transcription	Fetal Heart	heart
19	chr18:25913000-25914200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:25913000-25914400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:25914200-25915000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:25914400-25915000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:25914600-25914800	Enhancers	Fetal Heart	heart
24	chr18:25922800-25923000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr18:25923000-25928000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr18:25924000-25924400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr18:25924400-25929000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:25925800-25926000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr18:25926000-25930800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr18:25927400-25927800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr18:25927600-25928600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr18:25927800-25930600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr18:25928000-25931800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr18:25928600-25929200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:25928600-25929800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr18:25929000-25930000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr18:25929200-25930000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:25929200-25931600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr18:25929600-25930000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr18:25929600-25930600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr18:25929800-25931400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr18:25930000-25930400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr18:25930000-25931000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:25930400-25931600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr18:25930400-25931800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr18:25930600-25931200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr18:25930600-25931400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr18:25930800-25931000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr18:25931000-25931200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr18:25931000-25931200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links