Variant report

Variant	nsv543734
Chromosome Location	chr18:61828056-61989273
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	chr18:61940890-61941305	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr18:61940948-61941245	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr18:61842749-61842935	GM12878	blood:	n/a	n/a
7	BHLHE40	chr18:61972110-61972116	GM12878	blood:	n/a	n/a
8	BHLHE40	chr18:61870675-61870753	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	chr18:61875851-61876154	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr18:61870207-61870536	HepG2	liver:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
13	CEBPB	chr18:61877208-61877497	HepG2	liver:	n/a	chr18:61877336-61877349 chr18:61877335-61877352
14	CEBPB	chr18:61921652-61921957	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr18:61911484-61911736	HepG2	liver:	n/a	chr18:61911616-61911627
16	CEBPB	chr18:61875885-61876166	HepG2	liver:	n/a	n/a
17	CEBPB	chr18:61913543-61913718	HepG2	liver:	n/a	chr18:61913635-61913646 chr18:61913635-61913648
18	CEBPB	chr18:61877303-61877444	A549	lung:	n/a	chr18:61877336-61877349 chr18:61877335-61877352
19	CEBPB	chr18:61940797-61941332	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr18:61875882-61876124	IMR90	lung:	n/a	n/a
21	CEBPB	chr18:61870262-61870533	Hela-S3	cervix:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
22	CEBPB	chr18:61924852-61925083	HepG2	liver:	n/a	chr18:61924939-61924950
23	CEBPB	chr18:61967008-61967184	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr18:61856287-61856481	A549	lung:	n/a	chr18:61856418-61856429 chr18:61856309-61856317
25	CEBPB	chr18:61861939-61862191	HepG2	liver:	n/a	n/a
26	CEBPB	chr18:61875847-61876144	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr18:61967966-61967990	A549	lung:	n/a	n/a
28	CEBPB	chr18:61921707-61921830	IMR90	lung:	n/a	n/a
29	CEBPB	chr18:61921633-61921944	HepG2	liver:	n/a	n/a
30	CEBPB	chr18:61870273-61870546	A549	lung:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
31	CEBPB	chr18:61870297-61870487	ECC-1	luminal epithelium:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
32	CEBPB	chr18:61913577-61913750	IMR90	lung:	n/a	chr18:61913635-61913646 chr18:61913635-61913648
33	CEBPB	chr18:61953948-61954069	HepG2	liver:	n/a	n/a
34	CEBPB	chr18:61969459-61969540	A549	lung:	n/a	n/a
35	CEBPB	chr18:61870218-61870538	A549	lung:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
36	CEBPB	chr18:61875941-61876150	A549	lung:	n/a	n/a
37	CEBPB	chr18:61924821-61925085	IMR90	lung:	n/a	chr18:61924939-61924950
38	CEBPB	chr18:61870202-61870548	H1-hESC	embryonic stem cell:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
39	CEBPB	chr18:61924848-61925016	H1-hESC	embryonic stem cell:	n/a	chr18:61924939-61924950
40	CEBPB	chr18:61870224-61870527	IMR90	lung:	n/a	chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383 chr18:61870374-61870383
41	CHD2	chr18:61870731-61870898	GM12878	blood:	n/a	n/a
42	CHD2	chr18:61940818-61941384	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr18:61870307-61870321	GM12878	blood:	n/a	n/a
44	CHD2	chr18:61900038-61900082	GM12878	blood:	n/a	n/a
45	CHD2	chr18:61971218-61971227	GM12878	blood:	n/a	n/a
46	CTCF	chr18:61911920-61912070	GM12871	blood:	n/a	n/a
47	CTCF	chr18:61911900-61912050	Caco-2	colon:	n/a	n/a
48	CTCF	chr18:61911860-61912010	GM12868	blood:	n/a	n/a
49	CTCF	chr18:61875788-61875882	GM13976	blood:	n/a	n/a
50	CTCF	chr18:61911903-61912067	MCF-7	breast:	n/a	n/a

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

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

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

Extended variants
information (count: 4464 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:4464 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550051381	chr18:61829025-61829026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569960567	chr18:61829048-61829049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183575766	chr18:61829088-61829089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549094281	chr18:61829101-61829102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143109772	chr18:61829103-61829104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534639112	chr18:61829186-61829187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557742416	chr18:61829193-61829194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371603736	chr18:61829195-61829196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547245155	chr18:61829199-61829200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549591502	chr18:61829200-61829201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578007407	chr18:61829325-61829326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188508074	chr18:61829351-61829352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148247203	chr18:61829380-61829381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1944332	chr18:61829381-61829382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566752506	chr18:61829418-61829419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573911085	chr18:61829470-61829471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551861146	chr18:61829475-61829476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374785788	chr18:61829489-61829490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs55916431	chr18:61829518-61829519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs550351111	chr18:61829523-61829524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75521419	chr18:61829529-61829530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376295903	chr18:61829535-61829536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578085815	chr18:61829597-61829598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373673820	chr18:61829600-61829601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141290845	chr18:61829626-61829627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191378199	chr18:61829639-61829640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150321137	chr18:61829649-61829650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570319321	chr18:61829724-61829725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73962189	chr18:61829755-61829756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369812796	chr18:61829765-61829766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565773978	chr18:61829801-61829802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373575147	chr18:61829813-61829814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535805823	chr18:61829829-61829830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551493802	chr18:61829839-61829840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571311959	chr18:61829848-61829849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182829225	chr18:61829854-61829855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186599752	chr18:61829858-61829859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376022183	chr18:61829869-61829870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566152052	chr18:61829887-61829888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552851673	chr18:61829894-61829895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117635186	chr18:61829895-61829896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541173372	chr18:61829945-61829946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28390209	chr18:61829948-61829949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373871286	chr18:61829964-61829965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543374994	chr18:61829994-61829995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191453472	chr18:61830015-61830016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554471192	chr18:61830050-61830051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60720959	chr18:61830146-61830147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs137955802	chr18:61830150-61830151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559739117	chr18:61830176-61830177	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:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:61829000-61830800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr18:61829200-61830600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr18:61829200-61830800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr18:61829200-61830800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:61829200-61831600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr18:61829400-61830000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr18:61829400-61830800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr18:61830000-61830200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr18:61830000-61830400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:61830400-61830600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr18:61830600-61831000	Enhancers	Ovary	ovary
12	chr18:61830600-61832000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr18:61830600-61833200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr18:61830800-61832000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr18:61830800-61832200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr18:61830800-61833000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr18:61830800-61833200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:61831600-61832000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr18:61831800-61832000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr18:61831800-61832400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:61832000-61832200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr18:61832000-61832400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:61832000-61832600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr18:61832000-61835200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr18:61832000-61835400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr18:61832000-61835600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr18:61832200-61832400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr18:61832200-61833000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr18:61832400-61832800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr18:61832600-61833000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr18:61832800-61833600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr18:61833000-61833400	Enhancers	Fetal Kidney	kidney
33	chr18:61833000-61835000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr18:61833000-61835200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:61833000-61835200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:61833000-61835600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:61833000-61835600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr18:61833000-61835600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr18:61833200-61833400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr18:61833200-61833800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr18:61833200-61834800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr18:61833200-61835200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr18:61833400-61833800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr18:61833600-61834000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr18:61833800-61834000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr18:61833800-61834200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr18:61833800-61834600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr18:61834000-61834200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr18:61834000-61834600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr18:61834200-61834800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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