Variant report

Variant	esv2762855
Chromosome Location	chr18:61833229-61988481
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	ATF2	chr18:61869447-61869901	GM12878	blood:	n/a	n/a
2	ATF2	chr18:61940883-61941395	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr18:61833159-61833548	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr18:61940948-61941245	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr18:61940890-61941305	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr18:61842749-61842935	GM12878	blood:	n/a	n/a
7	BHLHE40	chr18:61870675-61870753	GM12878	blood:	n/a	n/a
8	BHLHE40	chr18:61972110-61972116	GM12878	blood:	n/a	n/a
9	BRCA1	chr18:61869031-61869036	GM12878	blood:	n/a	n/a
10	CCNT2	chr18:61858063-61858380	K562	blood:	n/a	n/a
11	CEBPB	chr18:61969459-61969540	A549	lung:	n/a	n/a
12	CEBPB	chr18:61911484-61911736	HepG2	liver:	n/a	chr18:61911616-61911627
13	CEBPB	chr18:61953948-61954069	HepG2	liver:	n/a	n/a
14	CEBPB	chr18:61924852-61925083	HepG2	liver:	n/a	chr18:61924939-61924950
15	CEBPB	chr18:61921633-61921944	HepG2	liver:	n/a	n/a
16	CEBPB	chr18:61870218-61870538	A549	lung:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
17	CEBPB	chr18:61875847-61876144	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr18:61877303-61877444	A549	lung:	n/a	chr18:61877336-61877349 chr18:61877335-61877352
19	CEBPB	chr18:61967966-61967990	A549	lung:	n/a	n/a
20	CEBPB	chr18:61870273-61870546	A549	lung:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
21	CEBPB	chr18:61870262-61870533	Hela-S3	cervix:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
22	CEBPB	chr18:61875882-61876124	IMR90	lung:	n/a	n/a
23	CEBPB	chr18:61861939-61862191	HepG2	liver:	n/a	n/a
24	CEBPB	chr18:61913543-61913718	HepG2	liver:	n/a	chr18:61913635-61913646 chr18:61913635-61913648
25	CEBPB	chr18:61875941-61876150	A549	lung:	n/a	n/a
26	CEBPB	chr18:61921652-61921957	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr18:61870224-61870527	IMR90	lung:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
28	CEBPB	chr18:61967008-61967184	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr18:61877208-61877497	HepG2	liver:	n/a	chr18:61877336-61877349 chr18:61877335-61877352
30	CEBPB	chr18:61856287-61856481	A549	lung:	n/a	chr18:61856418-61856429 chr18:61856309-61856317
31	CEBPB	chr18:61870202-61870548	H1-hESC	embryonic stem cell:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
32	CEBPB	chr18:61875885-61876166	HepG2	liver:	n/a	n/a
33	CEBPB	chr18:61940797-61941332	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr18:61924821-61925085	IMR90	lung:	n/a	chr18:61924939-61924950
35	CEBPB	chr18:61870297-61870487	ECC-1	luminal epithelium:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
36	CEBPB	chr18:61921707-61921830	IMR90	lung:	n/a	n/a
37	CEBPB	chr18:61924848-61925016	H1-hESC	embryonic stem cell:	n/a	chr18:61924939-61924950
38	CEBPB	chr18:61870207-61870536	HepG2	liver:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
39	CEBPB	chr18:61875851-61876154	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr18:61913577-61913750	IMR90	lung:	n/a	chr18:61913635-61913646 chr18:61913635-61913648
41	CHD2	chr18:61870731-61870898	GM12878	blood:	n/a	n/a
42	CHD2	chr18:61870307-61870321	GM12878	blood:	n/a	n/a
43	CHD2	chr18:61971218-61971227	GM12878	blood:	n/a	n/a
44	CHD2	chr18:61900038-61900082	GM12878	blood:	n/a	n/a
45	CHD2	chr18:61940818-61941384	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr18:61911900-61912050	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr18:61911940-61912090	GM06990	blood:	n/a	n/a
48	CTCF	chr18:61911920-61912070	GM12875	blood:	n/a	n/a
49	CTCF	chr18:61911942-61912026	A549	lung:	n/a	n/a
50	CTCF	chr18:61911940-61912090	WERI-Rb-1	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:23330560..23331349-chr18:61953012..61953772,2	MCF-7	breast:
2	chr18:61854165..61855797-chr18:61857298..61859309,2	MCF-7	breast:
3	chr18:61901489..61903388-chr18:61925678..61927439,2	K562	blood:
4	chr18:61854165..61855797-chr18:61857298..61859309,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERPINB8-5	chr18:61916536-61916628	ENSG00000267134.1
2	lnc-SERPINB3-2	chr18:61927150-61927290	ENSG00000266952.1
3	lnc-SERPINB3-2	chr18:61927150-61927290	XLOC_012865
4	lnc-SERPINB3-2	chr18:61927150-61927290	NR_033983
5	lnc-SERPINB8-5	chr18:61961162-61961350	ENSG00000267134.1
6	lnc-SERPINB3-2	chr18:61925453-61925754	ENSG00000266952.1
7	lnc-SERPINB8-5	chr18:61961162-61961350	NR_033881
8	lnc-SERPINB3-2	chr18:61880317-61882281	ENSG00000266952.1
9	lnc-SERPINB3-2	chr18:61880318-61882281	NR_033983
10	lnc-SERPINB3-2	chr18:61880320-61882281	XLOC_012865
11	lnc-SERPINB8-5	chr18:61955030-61955127	ENSG00000267134.1
12	lnc-SERPINB3-2	chr18:61925453-61925754	XLOC_012865
13	lnc-SERPINB8-5	chr18:61955030-61955127	NR_033881
14	lnc-SERPINB8-5	chr18:61916536-61916628	NR_033881
15	lnc-SERPINB3-2	chr18:61925453-61925754	NR_033983

Variant related genes	Relation type
ENSG00000266952	TF binding region
ENSG00000266952	chromatin interactions

Extended variants
information (count: 4250 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:4250 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113008610	chr18:61833259-61833260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528801381	chr18:61833269-61833270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141177014	chr18:61833288-61833289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74661217	chr18:61833316-61833317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566936006	chr18:61833338-61833339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571477803	chr18:61833346-61833347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532570328	chr18:61833349-61833350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374142631	chr18:61833358-61833359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183903809	chr18:61833362-61833363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138341278	chr18:61833384-61833385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368910944	chr18:61833402-61833403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377680532	chr18:61833403-61833404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538568332	chr18:61833411-61833412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554963776	chr18:61833433-61833434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568669744	chr18:61833441-61833442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534119386	chr18:61833519-61833520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553468750	chr18:61833599-61833600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188501513	chr18:61833632-61833633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78657774	chr18:61833660-61833661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192159315	chr18:61833674-61833675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555701188	chr18:61833719-61833720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17724685	chr18:61833720-61833721	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567750026	chr18:61833787-61833788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573340274	chr18:61833912-61833913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545385850	chr18:61833930-61833931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542133877	chr18:61833981-61833982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183878346	chr18:61834064-61834065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188458578	chr18:61834074-61834075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149606778	chr18:61834092-61834093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191822680	chr18:61834114-61834115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147302789	chr18:61834122-61834123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140772869	chr18:61834163-61834164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552693013	chr18:61834189-61834190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73962194	chr18:61834262-61834263	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531587685	chr18:61834277-61834278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114283098	chr18:61834282-61834283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568629266	chr18:61834302-61834303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553444549	chr18:61834304-61834305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184430210	chr18:61834307-61834308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547539396	chr18:61834352-61834353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12965417	chr18:61834358-61834359	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539189694	chr18:61834377-61834378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17072641	chr18:61834447-61834448	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576021191	chr18:61834490-61834491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370460901	chr18:61834574-61834575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144723360	chr18:61834584-61834585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs8089362	chr18:61834597-61834598	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73471556	chr18:61834623-61834624	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs148505567	chr18:61834629-61834630	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs372631831	chr18:61834738-61834739	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
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
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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Burkitt''s lymphoma	18698080	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Glioblastoma	21080181	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Colorectal cancer	16912164	CNVD
Intracranial aneurysm	16715129	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric cancer	22539939	CNVD
Ovarian cancer	20844748	CNVD
Squamous cell cancer	20885788	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	21811587	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:61832000-61835200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr18:61832000-61835400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr18:61832000-61835600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr18:61832800-61833600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr18:61833000-61833400	Enhancers	Fetal Kidney	kidney
6	chr18:61833000-61835000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr18:61833000-61835200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:61833000-61835200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr18:61833000-61835600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:61833000-61835600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr18:61833000-61835600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr18:61833200-61833400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:61833200-61833800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr18:61833200-61834800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:61833200-61835200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr18:61833400-61833800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:61833600-61834000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr18:61833800-61834000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr18:61833800-61834200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr18:61833800-61834600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:61834000-61834200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr18:61834000-61834600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr18:61834200-61834800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr18:61834200-61835200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr18:61834600-61835400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr18:61834800-61835000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr18:61838800-61839400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:61842600-61843600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr18:61843000-61843400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr18:61843000-61843600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr18:61843000-61843600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr18:61846400-61847800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:61846400-61848200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr18:61846600-61847200	Enhancers	Fetal Brain Male	brain
35	chr18:61846800-61848200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr18:61847000-61847400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:61847800-61850800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:61848200-61850200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:61849400-61851000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr18:61850000-61850200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr18:61850000-61854600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr18:61850200-61851000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr18:61850200-61851000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr18:61850200-61851800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr18:61850600-61852000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr18:61850800-61851200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:61850800-61851400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:61850800-61851600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr18:61850800-61851600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr18:61851000-61851600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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