Variant report

Variant	nsv1066521
Chromosome Location	chr18:61838457-61985268
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	chr18:61842749-61842935	GM12878	blood:	n/a	n/a
6	BHLHE40	chr18:61972110-61972116	GM12878	blood:	n/a	n/a
7	BHLHE40	chr18:61870675-61870753	GM12878	blood:	n/a	n/a
8	BRCA1	chr18:61869031-61869036	GM12878	blood:	n/a	n/a
9	CCNT2	chr18:61858063-61858380	K562	blood:	n/a	n/a
10	CEBPB	chr18:61877208-61877497	HepG2	liver:	n/a	chr18:61877336-61877349 chr18:61877335-61877352
11	CEBPB	chr18:61870224-61870527	IMR90	lung:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
12	CEBPB	chr18:61967966-61967990	A549	lung:	n/a	n/a
13	CEBPB	chr18:61875941-61876150	A549	lung:	n/a	n/a
14	CEBPB	chr18:61875851-61876154	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr18:61875847-61876144	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr18:61953948-61954069	HepG2	liver:	n/a	n/a
17	CEBPB	chr18:61861939-61862191	HepG2	liver:	n/a	n/a
18	CEBPB	chr18:61921707-61921830	IMR90	lung:	n/a	n/a
19	CEBPB	chr18:61870297-61870487	ECC-1	luminal epithelium:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
20	CEBPB	chr18:61924848-61925016	H1-hESC	embryonic stem cell:	n/a	chr18:61924939-61924950
21	CEBPB	chr18:61921633-61921944	HepG2	liver:	n/a	n/a
22	CEBPB	chr18:61870218-61870538	A549	lung:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
23	CEBPB	chr18:61856287-61856481	A549	lung:	n/a	chr18:61856418-61856429 chr18:61856309-61856317
24	CEBPB	chr18:61913543-61913718	HepG2	liver:	n/a	chr18:61913635-61913646 chr18:61913635-61913648
25	CEBPB	chr18:61877303-61877444	A549	lung:	n/a	chr18:61877336-61877349 chr18:61877335-61877352
26	CEBPB	chr18:61924821-61925085	IMR90	lung:	n/a	chr18:61924939-61924950
27	CEBPB	chr18:61870207-61870536	HepG2	liver:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
28	CEBPB	chr18:61924852-61925083	HepG2	liver:	n/a	chr18:61924939-61924950
29	CEBPB	chr18:61940797-61941332	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr18:61969459-61969540	A549	lung:	n/a	n/a
31	CEBPB	chr18:61875882-61876124	IMR90	lung:	n/a	n/a
32	CEBPB	chr18:61911484-61911736	HepG2	liver:	n/a	chr18:61911616-61911627
33	CEBPB	chr18:61870202-61870548	H1-hESC	embryonic stem cell:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
34	CEBPB	chr18:61870262-61870533	Hela-S3	cervix:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
35	CEBPB	chr18:61870273-61870546	A549	lung:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
36	CEBPB	chr18:61967008-61967184	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr18:61875885-61876166	HepG2	liver:	n/a	n/a
38	CEBPB	chr18:61913577-61913750	IMR90	lung:	n/a	chr18:61913635-61913646 chr18:61913635-61913648
39	CEBPB	chr18:61921652-61921957	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr18:61870731-61870898	GM12878	blood:	n/a	n/a
41	CHD2	chr18:61971218-61971227	GM12878	blood:	n/a	n/a
42	CHD2	chr18:61870307-61870321	GM12878	blood:	n/a	n/a
43	CHD2	chr18:61900038-61900082	GM12878	blood:	n/a	n/a
44	CHD2	chr18:61940818-61941384	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr18:61911960-61912110	GM12865	blood:	n/a	n/a
46	CTCF	chr18:61911860-61912010	GM12867	blood:	n/a	n/a
47	CTCF	chr18:61911831-61912149	GM12878	blood:	n/a	n/a
48	CTCF	chr18:61911920-61912070	GM12864	blood:	n/a	n/a
49	CTCF	chr18:61840803-61840889	Lung_OC	lung:	n/a	n/a
50	CTCF	chr18:61949229-61949284	Kidney_OC	kidney:	n/a	n/a

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

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

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

Extended variants
information (count: 4168 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:4168 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187702560	chr18:61838923-61838924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1944327	chr18:61838947-61838948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531076851	chr18:61838948-61838949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550795801	chr18:61838952-61838953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567680029	chr18:61838955-61838956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147479368	chr18:61838973-61838974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139321403	chr18:61838979-61838980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192372394	chr18:61838986-61838987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184604925	chr18:61839004-61839005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117851799	chr18:61839014-61839015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149976345	chr18:61839045-61839046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200378307	chr18:61839080-61839081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189414502	chr18:61839094-61839095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112385340	chr18:61839108-61839109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73962201	chr18:61839113-61839114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574108423	chr18:61839118-61839119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182061053	chr18:61839124-61839125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560021563	chr18:61839140-61839141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184529669	chr18:61839154-61839155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117526269	chr18:61839258-61839259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7231601	chr18:61839259-61839260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs144243014	chr18:61839265-61839266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138373956	chr18:61839288-61839289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9947748	chr18:61839312-61839313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs34952115	chr18:61839323-61839324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs398033202	chr18:61839326-61839327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189089149	chr18:61839333-61839334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554245422	chr18:61839380-61839381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571387787	chr18:61842621-61842622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537216211	chr18:61842622-61842623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561381120	chr18:61842646-61842647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374679278	chr18:61842653-61842654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576083565	chr18:61842688-61842689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143194072	chr18:61842778-61842779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555384681	chr18:61842787-61842788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147092090	chr18:61842793-61842794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541357487	chr18:61842804-61842805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148105854	chr18:61842832-61842833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575258175	chr18:61842859-61842860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578123775	chr18:61842866-61842867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543949140	chr18:61842875-61842876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563246774	chr18:61842883-61842884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529037483	chr18:61842894-61842895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180786085	chr18:61842925-61842926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs8091006	chr18:61842934-61842935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570246836	chr18:61842937-61842938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565897033	chr18:61842996-61842997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186219711	chr18:61843012-61843013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141893004	chr18:61843095-61843096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532632670	chr18:61843181-61843182	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:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:61838800-61839400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:61842600-61843600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr18:61843000-61843400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr18:61843000-61843600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr18:61843000-61843600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr18:61846400-61847800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:61846400-61848200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:61846600-61847200	Enhancers	Fetal Brain Male	brain
9	chr18:61846800-61848200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:61847000-61847400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:61847800-61850800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:61848200-61850200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:61849400-61851000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr18:61850000-61850200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr18:61850000-61854600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr18:61850200-61851000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:61850200-61851000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr18:61850200-61851800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:61850600-61852000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr18:61850800-61851200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:61850800-61851400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:61850800-61851600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr18:61850800-61851600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr18:61851000-61851600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr18:61851000-61851800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr18:61851000-61852200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:61851000-61858800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr18:61851200-61851400	Enhancers	Brain Cingulate Gyrus	brain
29	chr18:61851200-61854400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr18:61851400-61851600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr18:61851400-61851600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
32	chr18:61851400-61856000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:61851600-61851800	Enhancers	Fetal Kidney	kidney
34	chr18:61851600-61852000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr18:61851600-61852000	Enhancers	Primary hematopoietic stem cells	blood
36	chr18:61851600-61854400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr18:61851600-61858800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr18:61851800-61854800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:61851800-61855600	Weak transcription	Fetal Kidney	kidney
40	chr18:61852000-61854400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr18:61852000-61869600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr18:61852200-61852400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr18:61853000-61853200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr18:61853000-61853600	Enhancers	Fetal Muscle Leg	muscle
45	chr18:61853200-61854000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr18:61854000-61854800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr18:61854400-61854800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr18:61854400-61854800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr18:61854400-61854800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr18:61854400-61854800	Enhancers	Adipose Nuclei	Adipose

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