Variant report

Variant	nsv576641
Chromosome Location	chr18:30856949-30930418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:161)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:161 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr18:30868462-30868546	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr18:30907016-30907332	A549	lung:	n/a	chr18:30907159-30907170
3	CEBPB	chr18:30906973-30907362	ECC-1	luminal epithelium:	n/a	chr18:30907159-30907170
4	CEBPB	chr18:30906913-30907355	ECC-1	luminal epithelium:	n/a	chr18:30907159-30907170
5	CEBPB	chr18:30904175-30904423	A549	lung:	n/a	chr18:30904334-30904343 chr18:30904332-30904343 chr18:30904334-30904343 chr18:30904334-30904345 chr18:30904332-30904345 chr18:30904334-30904343 chr18:30904334-30904343
6	CEBPB	chr18:30907026-30907322	H1-hESC	embryonic stem cell:	n/a	chr18:30907159-30907170
7	CEBPB	chr18:30902685-30902878	HepG2	liver:	n/a	chr18:30902705-30902716 chr18:30902766-30902779 chr18:30902767-30902778
8	CEBPB	chr18:30911883-30912106	HepG2	liver:	n/a	chr18:30911978-30911989
9	CEBPB	chr18:30906979-30907352	K562	blood:	n/a	chr18:30907159-30907170
10	CEBPB	chr18:30906968-30907317	HepG2	liver:	n/a	chr18:30907159-30907170
11	CEBPB	chr18:30904181-30904489	HepG2	liver:	n/a	chr18:30904334-30904343 chr18:30904332-30904343 chr18:30904334-30904343 chr18:30904334-30904345 chr18:30904332-30904345 chr18:30904334-30904343 chr18:30904334-30904343
12	CEBPB	chr18:30906969-30907351	Hela-S3	cervix:	n/a	chr18:30907159-30907170
13	CHD2	chr18:30896393-30896593	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr18:30862880-30863030	HepG2	liver:	n/a	n/a
15	CTCF	chr18:30913020-30913170	RPTEC	kidney:	n/a	n/a
16	CTCF	chr18:30897197-30897278	GM20000	blood:	n/a	n/a
17	CTCF	chr18:30896360-30896510	HepG2	liver:	n/a	n/a
18	CTCF	chr18:30896420-30896570	GM12873	blood:	n/a	n/a
19	CTCF	chr18:30862840-30862990	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr18:30896439-30896517	MCF-7	breast:	n/a	n/a
21	CTCF	chr18:30896400-30896550	GM12872	blood:	n/a	n/a
22	CTCF	chr18:30896423-30896566	MCF-7	breast:	n/a	n/a
23	CTCF	chr18:30913116-30913278	LNCaP	prostate:	n/a	n/a
24	CTCF	chr18:30913100-30913250	HPF	lung:	n/a	n/a
25	CTCF	chr18:30896420-30896570	GM12868	blood:	n/a	n/a
26	CTCF	chr18:30896360-30896510	GM12865	blood:	n/a	n/a
27	CTCF	chr18:30896320-30896470	K562	blood:	n/a	n/a
28	CTCF	chr18:30913082-30913304	GM12878	blood:	n/a	n/a
29	CTCF	chr18:30896420-30896570	GM12869	blood:	n/a	n/a
30	CTCF	chr18:30896279-30896615	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr18:30913120-30913270	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr18:30862900-30863050	HEK293	kidney:	n/a	n/a
33	CTCF	chr18:30913100-30913250	SAEC	small airway:	n/a	n/a
34	CTCF	chr18:30913179-30913227	MCF-7	breast:	n/a	n/a
35	CTCF	chr18:30896448-30896568	MCF-7	breast:	n/a	n/a
36	CTCF	chr18:30913179-30913249	GM13977	blood:	n/a	n/a
37	CTCF	chr18:30862920-30863023	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr18:30896320-30896470	GM12875	blood:	n/a	n/a
39	CTCF	chr18:30896452-30896565	LNCaP	prostate:	n/a	n/a
40	CTCF	chr18:30896300-30896450	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr18:30896422-30896553	K562	blood:	n/a	n/a
42	CTCF	chr18:30896360-30896510	HEK293	kidney:	n/a	n/a
43	CTCF	chr18:30913100-30913250	HMEC	breast:	n/a	n/a
44	CTCF	chr18:30913160-30913310	HMEC	breast:	n/a	n/a
45	CTCF	chr18:30913080-30913230	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr18:30896397-30896570	K562	blood:	n/a	n/a
47	CTCF	chr18:30896446-30896532	K562	blood:	n/a	n/a
48	CTCF	chr18:30913100-30913250	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr18:30896357-30896568	HepG2	liver:	n/a	n/a
50	CTCF	chr18:30896400-30896550	GM12871	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:30896376-30896426	PANC-1	pancreas:	n/a
2	chr18:30896376-30896426	NH-A	brain:	n/a
3	chr18:30896376-30896426	AG09309	skin:	n/a
4	chr18:30896376-30896426	Jurkat	blood:	n/a
5	chr18:30896376-30896426	GM12892	blood:	n/a
6	chr18:30896376-30896426	NB4	blood:	n/a
7	chr18:30896376-30896426	PrEC	prostate:	n/a
8	chr18:30896376-30896426	Hepatocyte	liver:	n/a
9	chr18:30896376-30896426	AG10803	skin:	n/a
10	chr18:30896376-30896426	GM12891	blood:	n/a
11	chr18:30896376-30896426	CMK	blood:	n/a
12	chr18:30896376-30896426	BJ	skin:	n/a
13	chr18:30896376-30896426	Hela-S3	cervix:	n/a
14	chr18:30896376-30896426	HNPCEpiC	eye:	n/a
15	chr18:30896376-30896426	SAEC	small airway:	n/a
16	chr18:30896376-30896426	HCPEpiC	choroid plexus:	n/a
17	chr18:30896376-30896426	PFSK-1	brain:	n/a
18	chr18:30896376-30896426	AG09319	gingival:	n/a
19	chr18:30896376-30896426	GM19239	blood:	n/a
20	chr18:30896376-30896426	HRCEpiC	kidney:	n/a
21	chr18:30896376-30896426	AG04449	skin:	fetal
22	chr18:30896376-30896426	MCF-7	breast:	n/a
23	chr18:30896376-30896426	RPTEC	kidney:	n/a
24	chr18:30896376-30896426	SK-N-SH	brain:	n/a
25	chr18:30896376-30896426	HMEC	breast:	n/a
26	chr18:30896376-30896426	HCM	heart:	n/a
27	chr18:30896376-30896426	HAEpiC	amniotic membrane:	n/a
28	chr18:30896376-30896426	NHDF-neo	bronchial:	n/a
29	chr18:30896376-30896426	HRPEpiC	eye:	n/a
30	chr18:30896376-30896426	Caco-2	colon:	n/a
31	chr18:30896376-30896426	GM06990	blood:	n/a
32	chr18:30896376-30896426	NT2-D1	testis:	n/a
33	chr18:30896376-30896426	HL-60	blood:	n/a
34	chr18:30896376-30896426	T-47D	breast:	n/a
35	chr18:30896376-30896426	H1-hESC	embryonic stem cell:	embryo
36	chr18:30896376-30896426	HEK293	kidney:	embryo
37	chr18:30896376-30896426	NHBE	bronchial:	n/a
38	chr18:30896376-30896426	LNCaP	prostate:	n/a
39	chr18:30896376-30896426	IMR90	lung:	fetal
40	chr18:30896376-30896426	SKMC	muscle:	n/a
41	chr18:30896376-30896426	MCF10A-Er-Src	breast:	n/a
42	chr18:30896376-30896426	HIPEpiC	eye:	n/a
43	chr18:30896376-30896426	HEEpiC	esophagus:	n/a
44	chr18:30896376-30896426	HepG2	liver:	n/a
45	chr18:30896376-30896426	HUVEC	blood vessel:	n/a
46	chr18:30896376-30896426	ovcar-3	ovarian:	n/a
47	chr18:30896376-30896426	SK-N-SH_RA	brain:	n/a
48	chr18:30896376-30896426	AG04450	lung:	fetal
49	chr18:30896376-30896426	BE2_C	brain:	n/a
50	chr18:30896376-30896426	HCT-116	colon:	n/a

No data

Variant related genes	Relation type
CCDC178	TF binding region
CCDC178	CpG island

Extended variants
information (count: 768 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:768 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79888422	chr18:30857200-30857201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150564179	chr18:30857302-30857303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541137305	chr18:30857321-30857322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538284808	chr18:30857329-30857330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564227361	chr18:30857350-30857351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577760514	chr18:30857408-30857409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543644679	chr18:30857460-30857461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563421576	chr18:30857534-30857535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76951703	chr18:30857620-30857621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548940382	chr18:30857649-30857650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371661459	chr18:30857679-30857680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189075811	chr18:30857686-30857687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139549646	chr18:30857703-30857704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534353503	chr18:30857775-30857776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556571803	chr18:30857791-30857792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117347546	chr18:30857804-30857805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111902603	chr18:30857813-30857814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571752105	chr18:30857837-30857838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537231565	chr18:30857860-30857861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149751882	chr18:30857865-30857866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144590813	chr18:30857866-30857867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140751386	chr18:30857870-30857871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59342170	chr18:30857896-30857897	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550003763	chr18:30862620-30862621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114017478	chr18:30862669-30862670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535638133	chr18:30862670-30862671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367656701	chr18:30862684-30862685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs66481582	chr18:30862695-30862696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572376497	chr18:30862704-30862705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147459939	chr18:30862709-30862710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553686345	chr18:30862714-30862715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576750849	chr18:30862716-30862717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545828512	chr18:30862748-30862749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562430649	chr18:30862784-30862785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562999009	chr18:30862792-30862793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537111182	chr18:30862816-30862817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542019724	chr18:30862873-30862874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs67274971	chr18:30862901-30862902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs67373469	chr18:30862924-30862925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139235474	chr18:30862944-30862945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564452649	chr18:30862966-30862967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150016964	chr18:30863042-30863043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550183007	chr18:30863087-30863088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569778779	chr18:30863099-30863100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535575276	chr18:30863192-30863193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549117843	chr18:30863198-30863199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565940708	chr18:30863210-30863211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535259174	chr18:30863227-30863228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534646416	chr18:30863253-30863254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528478572	chr18:30863260-30863261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30857200-30858000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr18:30857400-30857800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr18:30857400-30858000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:30857400-30858000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr18:30857400-30858000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr18:30857400-30858000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr18:30857400-30858000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr18:30857400-30858000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr18:30857600-30858000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr18:30857600-30858000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:30862600-30863000	Enhancers	Esophagus	oesophagus
12	chr18:30863000-30863200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:30863000-30868400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr18:30863200-30868000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:30868000-30868400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr18:30868000-30868400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr18:30868200-30868600	Enhancers	HSMM	muscle
18	chr18:30868400-30868600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr18:30868600-30868800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr18:30877200-30880400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:30880400-30880800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr18:30880400-30881200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr18:30880400-30881200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr18:30881000-30881600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:30884600-30885200	Enhancers	Fetal Lung	lung
26	chr18:30895800-30896000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr18:30895800-30896600	Active TSS	H1 Cell Line	embryonic stem cell
28	chr18:30896000-30896200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:30896000-30896600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr18:30896200-30896400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:30896200-30898200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr18:30896400-30896600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:30898200-30898400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:30910400-30912200	Enhancers	Fetal Lung	lung
35	chr18:30912600-30912800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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