Variant report

Variant	esv3362050
Chromosome Location	chr18:128001-160214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:675)
CpG islands
(count:794)
Chromatin interactive
region (count:20)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:158435-158687	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:150435-150550	K562	blood:	n/a	n/a
3	ATF1	chr18:158332-158983	K562	blood:	n/a	n/a
4	ATF3	chr18:158407-159043	K562	blood:	n/a	n/a
5	ATF3	chr18:158269-158734	HepG2	liver:	n/a	chr18:158290-158310
6	ATF3	chr18:158306-158739	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr18:158161-158396	K562	blood:	n/a	chr18:158290-158310
8	ATF3	chr18:135063-135303	K562	blood:	n/a	n/a
9	ATF3	chr18:158218-158388	GM12878	blood:	n/a	chr18:158290-158310
10	ATF3	chr18:158111-158789	GM12878	blood:	n/a	chr18:158290-158310
11	ATF3	chr18:158422-158737	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr18:136445-136704	GM12878	blood:	n/a	n/a
13	ATF3	chr18:158130-158721	HepG2	liver:	n/a	chr18:158290-158310
14	ATF3	chr18:158422-158663	GM12878	blood:	n/a	n/a
15	ATF3	chr18:136437-136714	K562	blood:	n/a	n/a
16	ATF3	chr18:158201-158395	H1-hESC	embryonic stem cell:	n/a	chr18:158290-158310
17	ATF3	chr18:158258-158725	K562	blood:	n/a	chr18:158290-158310
18	BACH1	chr18:158476-158601	K562	blood:	n/a	n/a
19	BACH1	chr18:158368-159507	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr18:158834-159144	K562	blood:	n/a	n/a
21	BCLAF1	chr18:157980-158727	K562	blood:	n/a	n/a
22	BHLHE40	chr18:158221-158775	HepG2	liver:	n/a	n/a
23	BHLHE40	chr18:158165-158808	GM12878	blood:	n/a	n/a
24	BHLHE40	chr18:158201-159060	K562	blood:	n/a	n/a
25	BHLHE40	chr18:135186-135244	K562	blood:	n/a	n/a
26	BHLHE40	chr18:136576-136718	HepG2	liver:	n/a	n/a
27	BHLHE40	chr18:140878-141078	HepG2	liver:	n/a	n/a
28	BRCA1	chr18:158389-158626	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr18:158537-158560	HepG2	liver:	n/a	n/a
30	BRCA1	chr18:158364-158687	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr18:129762-130069	K562	blood:	n/a	n/a
32	CBX3	chr18:157972-158829	HCT-116	colon:	n/a	n/a
33	CBX3	chr18:157987-158664	K562	blood:	n/a	n/a
34	CBX3	chr18:157970-158758	K562	blood:	n/a	n/a
35	CCNT2	chr18:135089-135285	K562	blood:	n/a	n/a
36	CCNT2	chr18:158176-159035	K562	blood:	n/a	n/a
37	CEBPB	chr18:155773-156010	HepG2	liver:	n/a	chr18:155888-155899
38	CEBPB	chr18:159568-159751	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr18:155811-155939	HepG2	liver:	n/a	chr18:155888-155899
40	CEBPB	chr18:136464-136497	HepG2	liver:	n/a	n/a
41	CEBPB	chr18:155807-155958	K562	blood:	n/a	chr18:155888-155899
42	CEBPB	chr18:155843-155953	H1-hESC	embryonic stem cell:	n/a	chr18:155888-155899
43	CEBPB	chr18:159554-159721	K562	blood:	n/a	n/a
44	CEBPB	chr18:135057-135332	K562	blood:	n/a	n/a
45	CEBPB	chr18:135131-135363	K562	blood:	n/a	n/a
46	CEBPB	chr18:159455-159778	K562	blood:	n/a	n/a
47	CEBPD	chr18:158337-158765	HepG2	liver:	n/a	n/a
48	CEBPD	chr18:158420-158717	HepG2	liver:	n/a	n/a
49	CEBPD	chr18:155725-155964	HepG2	liver:	n/a	n/a
50	CHD2	chr18:158522-158722	HepG2	liver:	n/a	n/a

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No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:158294-158344	AG10803	skin:	n/a
2	chr18:158294-158344	AG10803	skin:	n/a
3	chr18:158011-158061	HCM	heart:	n/a
4	chr18:158838-158888	GM19239	blood:	n/a
5	chr18:158348-158398	H1-hESC	embryonic stem cell:	embryo
6	chr18:159310-159360	HEEpiC	esophagus:	n/a
7	chr18:158551-158601	T-47D	breast:	n/a
8	chr18:159793-159843	HPAEpiC	pulmonary alveolar:	n/a
9	chr18:158011-158061	HCT-116	colon:	n/a
10	chr18:159265-159315	Caco-2	colon:	n/a
11	chr18:158463-158513	HMEC	breast:	n/a
12	chr18:159265-159315	NT2-D1	testis:	n/a
13	chr18:158838-158888	SK-N-SH	brain:	n/a
14	chr18:159793-159843	K562	blood:	n/a
15	chr18:158348-158398	SKMC	muscle:	n/a
16	chr18:159793-159843	HL-60	blood:	n/a
17	chr18:159265-159315	Jurkat	blood:	n/a
18	chr18:158294-158344	HL-60	blood:	n/a
19	chr18:158551-158601	RPTEC	kidney:	n/a
20	chr18:158463-158513	NB4	blood:	n/a
21	chr18:158292-158342	NHBE	bronchial:	n/a
22	chr18:158838-158888	HRE	kidney:	n/a
23	chr18:158567-158617	GM19239	blood:	n/a
24	chr18:159265-159315	ECC-1	luminal epithelium:	n/a
25	chr18:158292-158342	Hela-S3	cervix:	n/a
26	chr18:159310-159360	PrEC	prostate:	n/a
27	chr18:158292-158342	GM06990	blood:	n/a
28	chr18:155309-155359	GM12892	blood:	n/a
29	chr18:158348-158398	GM12878	blood:	n/a
30	chr18:158838-158888	HCM	heart:	n/a
31	chr18:158567-158617	T-47D	breast:	n/a
32	chr18:158838-158888	HAEpiC	amniotic membrane:	n/a
33	chr18:155309-155359	HMEC	breast:	n/a
34	chr18:158551-158601	HRE	kidney:	n/a
35	chr18:158011-158061	GM19239	blood:	n/a
36	chr18:158292-158342	PFSK-1	brain:	n/a
37	chr18:158838-158888	NHBE	bronchial:	n/a
38	chr18:155309-155359	HCM	heart:	n/a
39	chr18:158838-158888	SKMC	muscle:	n/a
40	chr18:159265-159315	GM12891	blood:	n/a
41	chr18:159265-159315	HNPCEpiC	eye:	n/a
42	chr18:159310-159360	Caco-2	colon:	n/a
43	chr18:158348-158398	MCF-7	breast:	n/a
44	chr18:158229-158279	NH-A	brain:	n/a
45	chr18:158011-158061	HepG2	liver:	n/a
46	chr18:158011-158061	AG04449	skin:	fetal
47	chr18:159310-159360	NHBE	bronchial:	n/a
48	chr18:158348-158398	HL-60	blood:	n/a
49	chr18:159265-159315	SK-N-MC	brain:	n/a
50	chr18:155309-155359	HAEpiC	amniotic membrane:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:148954..152289-chr18:157038..160198,3	MCF-7	breast:
2	chr18:139586..141641-chr18:148416..149949,2	K562	blood:
3	chr18:134984..136736-chr18:140752..143345,2	K562	blood:
4	chr18:155065..156905-chr18:157468..160011,3	K562	blood:
5	chr18:158012..160007-chr18:265808..268303,2	MCF-7	breast:
6	chr18:152262..154737-chr18:158515..160413,2	K562	blood:
7	chr1:229644060..229644762-chr18:153612..154112,2	HCT-116	colon:
8	chr18:145450..147918-chr18:815829..817789,2	K562	blood:
9	chr18:141525..143923-chr18:160153..163099,2	K562	blood:
10	chr18:154974..156565-chr18:158511..161131,2	K562	blood:
11	chr18:158417..159997-chr18:214475..216956,2	K562	blood:
12	chr18:141525..143923-chr18:160153..163099,2	K562	blood:
13	chr18:134984..136736-chr18:140752..143345,2	K562	blood:
14	chr18:139586..141641-chr18:148416..149949,2	K562	blood:
15	chr18:148615..151946-chr18:155352..158851,3	K562	blood:
16	chr18:159584..161282-chr18:196677..199436,2	K562	blood:
17	chr18:138088..139627-chr20:49345549..49348448,2	MCF-7	breast:
18	chr18:151636..153616-chr18:156917..159061,2	MCF-7	breast:
19	chr14:70233601..70234234-chr18:157797..158549,2	Hela-S3	cervix:
20	chr18:157295..159730-chr18:266988..268701,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP14-1	chr18:137413-137523	XLOC_012600
2	lnc-USP14-1	chr18:141481-142123	NONHSAT056828
3	lnc-USP14-1	chr18:141481-141924	XLOC_012600
4	lnc-USP14-1	chr18:137354-137523	NONHSAT056828

No data

Variant related genes	Relation type
USP14	TF binding region
USP14	CpG island
ENSG00000124171	chromatin interactions
ENSG00000101557	chromatin interactions
ENSG00000069248	chromatin interactions
ENSG00000263884	chromatin interactions
ENSG00000223635	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000079134	chromatin interactions

Extended variants
information (count: 808 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:808 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577204702	chr18:135235-135236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532650410	chr18:135261-135262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528542697	chr18:135289-135290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546623197	chr18:135293-135294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571321691	chr18:135332-135333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538618121	chr18:135355-135356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115971479	chr18:135447-135448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112149487	chr18:135454-135455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536483200	chr18:135492-135493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555144406	chr18:135513-135514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573004910	chr18:135535-135536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367919154	chr18:135544-135545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540317469	chr18:135576-135577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558652907	chr18:135579-135580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535270840	chr18:135608-135609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367596761	chr18:135609-135610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143431509	chr18:135615-135616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576937013	chr18:135646-135647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11876705	chr18:135649-135650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562650340	chr18:135698-135699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375795686	chr18:135752-135753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529992723	chr18:135799-135800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541686913	chr18:135810-135811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372093725	chr18:135856-135857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560194497	chr18:135866-135867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184053083	chr18:135914-135915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546709375	chr18:135958-135959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571359585	chr18:135959-135960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189086506	chr18:135975-135976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548884901	chr18:135990-135991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569494471	chr18:136053-136054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193002529	chr18:136173-136174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7234528	chr18:136305-136306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs140769529	chr18:136325-136326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534364254	chr18:136344-136345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530515617	chr18:136353-136354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558689611	chr18:136362-136363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576972673	chr18:136363-136364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550591107	chr18:136397-136398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185361939	chr18:136454-136455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556102008	chr18:136536-136537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574677554	chr18:136541-136542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542121505	chr18:136542-136543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559985867	chr18:136566-136567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570410732	chr18:136583-136584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188804204	chr18:136603-136604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6505761	chr18:136630-136631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs150464066	chr18:136638-136639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191826069	chr18:136691-136692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75749609	chr18:136722-136723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:135200-135600	Enhancers	K562	blood
2	chr18:135600-136400	Weak transcription	K562	blood
3	chr18:136200-136800	Enhancers	HepG2	liver
4	chr18:136400-136600	Enhancers	K562	blood
5	chr18:136400-137200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr18:136400-137400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr18:136400-137600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr18:136600-137200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr18:136600-141800	Weak transcription	K562	blood
10	chr18:137000-137400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr18:140600-141800	Flanking Active TSS	HepG2	liver
12	chr18:141800-142200	Enhancers	HepG2	liver
13	chr18:141800-142600	Enhancers	K562	blood
14	chr18:142600-143000	Enhancers	HUVEC	blood vessel
15	chr18:142600-143000	Flanking Active TSS	K562	blood
16	chr18:143000-144000	Enhancers	K562	blood
17	chr18:146600-147800	Active TSS	Placenta	Placenta
18	chr18:155400-155600	Enhancers	HepG2	liver
19	chr18:155600-156000	Flanking Active TSS	HepG2	liver
20	chr18:156000-156200	Enhancers	K562	blood
21	chr18:156000-156400	Enhancers	HepG2	liver
22	chr18:156200-156800	Weak transcription	K562	blood
23	chr18:156400-156800	Weak transcription	HepG2	liver
24	chr18:156800-157200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:156800-158000	Enhancers	HepG2	liver
26	chr18:156800-158000	Enhancers	K562	blood
27	chr18:157200-158000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:157400-157800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr18:157400-157800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr18:157400-157800	Enhancers	Brain Substantia Nigra	brain
31	chr18:157400-158000	Enhancers	Primary B cells from peripheral blood	blood
32	chr18:157400-158000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr18:157400-158000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr18:157600-158000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr18:157600-158000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr18:157600-158000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr18:157600-158000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr18:157600-158000	Enhancers	Brain Cingulate Gyrus	brain
39	chr18:157600-158000	Enhancers	Brain Hippocampus Middle	brain
40	chr18:157600-158000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr18:157600-158000	Enhancers	Fetal Kidney	kidney
42	chr18:157600-158000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr18:157600-158000	Enhancers	Dnd41	blood
44	chr18:157600-158200	Enhancers	Primary B cells from cord blood	blood
45	chr18:157800-158000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr18:157800-158600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr18:158000-158200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr18:158000-158200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr18:158000-158200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr18:158000-158200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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