Variant report

Variant	nsv431999
Chromosome Location	chr18:61850920-61947320
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	chr18:61940883-61941395	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr18:61869447-61869901	GM12878	blood:	n/a	n/a
3	BCL11A	chr18:61940948-61941245	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr18:61940890-61941305	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr18:61870675-61870753	GM12878	blood:	n/a	n/a
6	BRCA1	chr18:61869031-61869036	GM12878	blood:	n/a	n/a
7	CCNT2	chr18:61858063-61858380	K562	blood:	n/a	n/a
8	CEBPB	chr18:61870202-61870548	H1-hESC	embryonic stem cell:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
9	CEBPB	chr18:61924821-61925085	IMR90	lung:	n/a	chr18:61924939-61924950
10	CEBPB	chr18:61870218-61870538	A549	lung:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
11	CEBPB	chr18:61913577-61913750	IMR90	lung:	n/a	chr18:61913635-61913646 chr18:61913635-61913648
12	CEBPB	chr18:61870273-61870546	A549	lung:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
13	CEBPB	chr18:61861939-61862191	HepG2	liver:	n/a	n/a
14	CEBPB	chr18:61877208-61877497	HepG2	liver:	n/a	chr18:61877336-61877349 chr18:61877335-61877352
15	CEBPB	chr18:61875882-61876124	IMR90	lung:	n/a	n/a
16	CEBPB	chr18:61875847-61876144	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr18:61870207-61870536	HepG2	liver:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
18	CEBPB	chr18:61875941-61876150	A549	lung:	n/a	n/a
19	CEBPB	chr18:61940797-61941332	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr18:61870262-61870533	Hela-S3	cervix:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
21	CEBPB	chr18:61924848-61925016	H1-hESC	embryonic stem cell:	n/a	chr18:61924939-61924950
22	CEBPB	chr18:61921652-61921957	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr18:61875851-61876154	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr18:61870297-61870487	ECC-1	luminal epithelium:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
25	CEBPB	chr18:61856287-61856481	A549	lung:	n/a	chr18:61856418-61856429 chr18:61856309-61856317
26	CEBPB	chr18:61911484-61911736	HepG2	liver:	n/a	chr18:61911616-61911627
27	CEBPB	chr18:61913543-61913718	HepG2	liver:	n/a	chr18:61913635-61913646 chr18:61913635-61913648
28	CEBPB	chr18:61921633-61921944	HepG2	liver:	n/a	n/a
29	CEBPB	chr18:61877303-61877444	A549	lung:	n/a	chr18:61877336-61877349 chr18:61877335-61877352
30	CEBPB	chr18:61870224-61870527	IMR90	lung:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
31	CEBPB	chr18:61924852-61925083	HepG2	liver:	n/a	chr18:61924939-61924950
32	CEBPB	chr18:61921707-61921830	IMR90	lung:	n/a	n/a
33	CEBPB	chr18:61875885-61876166	HepG2	liver:	n/a	n/a
34	CHD2	chr18:61940818-61941384	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr18:61900038-61900082	GM12878	blood:	n/a	n/a
36	CHD2	chr18:61870307-61870321	GM12878	blood:	n/a	n/a
37	CHD2	chr18:61870731-61870898	GM12878	blood:	n/a	n/a
38	CTCF	chr18:61911900-61912050	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr18:61911860-61912010	GM12867	blood:	n/a	n/a
40	CTCF	chr18:61911900-61912050	GM12874	blood:	n/a	n/a
41	CTCF	chr18:61858440-61858590	GM12864	blood:	n/a	n/a
42	CTCF	chr18:61911921-61912055	GM12891	blood:	n/a	n/a
43	CTCF	chr18:61911901-61912085	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr18:61932960-61933110	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr18:61911903-61912067	MCF-7	breast:	n/a	n/a
46	CTCF	chr18:61911920-61912070	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr18:61911899-61912079	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr18:61911919-61912048	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr18:61911980-61912130	GM12868	blood:	n/a	n/a
50	CTCF	chr18:61911924-61912054	MCF-7	breast:	n/a	n/a

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

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

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

Extended variants
information (count: 3213 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:3213 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188007338	chr18:61850937-61850938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549476615	chr18:61850971-61850972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75786304	chr18:61851000-61851001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528495001	chr18:61851016-61851017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551525095	chr18:61851033-61851034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571665649	chr18:61851043-61851044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9944753	chr18:61851064-61851065	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113209373	chr18:61851072-61851073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567875768	chr18:61851123-61851124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536418261	chr18:61851134-61851135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150568117	chr18:61851138-61851139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572812950	chr18:61851155-61851156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61408456	chr18:61851196-61851197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185175649	chr18:61851257-61851258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34975058	chr18:61851278-61851279	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544113333	chr18:61851339-61851340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60207215	chr18:61851378-61851379	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs78144559	chr18:61851381-61851382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190357474	chr18:61851403-61851404	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs560284110	chr18:61851404-61851405	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs369567262	chr18:61851417-61851418	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs528624084	chr18:61851447-61851448	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs539770645	chr18:61851459-61851460	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs551884368	chr18:61851462-61851463	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs565314126	chr18:61851517-61851518	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs530894039	chr18:61851520-61851521	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs144313859	chr18:61851541-61851542	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs147388668	chr18:61851555-61851556	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs561899529	chr18:61851589-61851590	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs139448193	chr18:61851634-61851635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546920784	chr18:61851642-61851643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567054135	chr18:61851648-61851649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8087149	chr18:61851651-61851652	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558193411	chr18:61851682-61851683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149885138	chr18:61851695-61851696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537399944	chr18:61851716-61851717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182601706	chr18:61851742-61851743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74670101	chr18:61851748-61851749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574683688	chr18:61851794-61851795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540518191	chr18:61851795-61851796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533455013	chr18:61851905-61851906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553712031	chr18:61851907-61851908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576953170	chr18:61851924-61851925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545535637	chr18:61851932-61851933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565351134	chr18:61852051-61852052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530932216	chr18:61852077-61852078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560553688	chr18:61852122-61852123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62100379	chr18:61852165-61852166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186551235	chr18:61852172-61852173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530375193	chr18:61852174-61852175	Weak transcription Enhancers	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:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:61849400-61851000	Enhancers	H9 Cell Line	embryonic stem cell
2	chr18:61850000-61854600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr18:61850200-61851000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:61850200-61851000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr18:61850200-61851800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:61850600-61852000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr18:61850800-61851200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:61850800-61851400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:61850800-61851600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr18:61850800-61851600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr18:61851000-61851600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr18:61851000-61851800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:61851000-61852200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:61851000-61858800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr18:61851200-61851400	Enhancers	Brain Cingulate Gyrus	brain
16	chr18:61851200-61854400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:61851400-61851600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr18:61851400-61851600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
19	chr18:61851400-61856000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:61851600-61851800	Enhancers	Fetal Kidney	kidney
21	chr18:61851600-61852000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr18:61851600-61852000	Enhancers	Primary hematopoietic stem cells	blood
23	chr18:61851600-61854400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr18:61851600-61858800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr18:61851800-61854800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr18:61851800-61855600	Weak transcription	Fetal Kidney	kidney
27	chr18:61852000-61854400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:61852000-61869600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr18:61852200-61852400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:61853000-61853200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr18:61853000-61853600	Enhancers	Fetal Muscle Leg	muscle
32	chr18:61853200-61854000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr18:61854000-61854800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr18:61854400-61854800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:61854400-61854800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr18:61854400-61854800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr18:61854400-61854800	Enhancers	Adipose Nuclei	Adipose
38	chr18:61854400-61855000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:61854800-61855200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:61854800-61858200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:61854800-61859400	Weak transcription	Adipose Nuclei	Adipose
42	chr18:61855200-61855400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:61855400-61856200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr18:61855600-61856000	Enhancers	Fetal Kidney	kidney
45	chr18:61856000-61856200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:61856000-61861200	Weak transcription	Fetal Kidney	kidney
47	chr18:61858200-61860000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr18:61858600-61858800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr18:61858800-61859000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr18:61858800-61859000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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