Variant report

Variant	nsv132191
Chromosome Location	chr18:28739028-28745912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr18:28740860-28740988	K562	blood:	n/a	n/a
2	CEBPB	chr18:28745678-28745953	K562	blood:	n/a	chr18:28745824-28745835 chr18:28745822-28745835 chr18:28745822-28745833
3	CEBPB	chr18:28745703-28745903	H1-hESC	embryonic stem cell:	n/a	chr18:28745824-28745835 chr18:28745822-28745835 chr18:28745822-28745833
4	CEBPB	chr18:28745728-28746005	IMR90	lung:	n/a	chr18:28745824-28745835 chr18:28745822-28745835 chr18:28745822-28745833
5	CEBPB	chr18:28745675-28745920	HepG2	liver:	n/a	chr18:28745824-28745835 chr18:28745822-28745835 chr18:28745822-28745833
6	CTCF	chr18:28742700-28742850	HMEC	breast:	n/a	n/a
7	CTCF	chr18:28742634-28742670	MCF-7	breast:	n/a	n/a
8	CTCF	chr18:28742644-28742690	MCF-7	breast:	n/a	n/a
9	CTCF	chr18:28742636-28742713	MCF-7	breast:	n/a	n/a
10	E2F4	chr18:28741679-28741776	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr18:28740912-28741173	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr18:28742131-28742288	MCF10A-Er-Src	breast:	n/a	n/a
13	JUN	chr18:28739804-28739918	K562	blood:	n/a	n/a
14	KAP1	chr18:28744842-28744860	U2OS	brain:	n/a	n/a
15	NFYB	chr18:28745225-28745411	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr18:28743171-28743274	MCF10A-Er-Src	breast:	n/a	n/a
17	SETDB1	chr18:28744725-28745135	U2OS	brain:	n/a	n/a
18	STAT3	chr18:28740653-28740703	MCF10A-Er-Src	breast:	n/a	n/a
19	USF2	chr18:28742604-28742715	H1-hESC	embryonic stem cell:	n/a	n/a
20	ZNF143	chr18:28742333-28742671	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF263	chr18:28742744-28743241	HEK293-T-REx	kidney:	n/a	chr18:28742945-28742954 chr18:28742931-28742952 chr18:28742915-28742924

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:28743074-28743124	PrEC	prostate:	n/a
2	chr18:28743074-28743124	IMR90	lung:	fetal
3	chr18:28743074-28743124	H1-hESC	embryonic stem cell:	embryo
4	chr18:28742633-28742683	GM06990	blood:	n/a
5	chr18:28743074-28743124	HIPEpiC	eye:	n/a
6	chr18:28743074-28743124	SK-N-MC	brain:	n/a
7	chr18:28743074-28743124	GM12892	blood:	n/a
8	chr18:28742633-28742683	AoSMC	blood vessel:	n/a
9	chr18:28742633-28742683	HIPEpiC	eye:	n/a
10	chr18:28742633-28742683	MCF-7	breast:	n/a
11	chr18:28742633-28742683	HL-60	blood:	n/a
12	chr18:28743074-28743124	RPTEC	kidney:	n/a
13	chr18:28742633-28742683	IMR90	lung:	fetal
14	chr18:28742633-28742683	T-47D	breast:	n/a
15	chr18:28743074-28743124	HepG2	liver:	n/a
16	chr18:28742633-28742683	SK-N-MC	brain:	n/a
17	chr18:28743074-28743124	HRPEpiC	eye:	n/a
18	chr18:28743074-28743124	ovcar-3	ovarian:	n/a
19	chr18:28743074-28743124	AG09319	gingival:	n/a
20	chr18:28743074-28743124	MCF-7	breast:	n/a
21	chr18:28743074-28743124	NT2-D1	testis:	n/a
22	chr18:28742633-28742683	HCT-116	colon:	n/a
23	chr18:28743074-28743124	SAEC	small airway:	n/a
24	chr18:28742633-28742683	SK-N-SH	brain:	n/a
25	chr18:28742633-28742683	AG04449	skin:	fetal
26	chr18:28742633-28742683	H1-hESC	embryonic stem cell:	embryo
27	chr18:28742633-28742683	PrEC	prostate:	n/a
28	chr18:28743074-28743124	HCT-116	colon:	n/a
29	chr18:28742633-28742683	HMEC	breast:	n/a
30	chr18:28743074-28743124	LNCaP	prostate:	n/a
31	chr18:28742633-28742683	HCF	heart:	n/a
32	chr18:28743074-28743124	Caco-2	colon:	n/a
33	chr18:28743074-28743124	HCF	heart:	n/a
34	chr18:28742633-28742683	HNPCEpiC	eye:	n/a
35	chr18:28743074-28743124	Hela-S3	cervix:	n/a
36	chr18:28742633-28742683	HAEpiC	amniotic membrane:	n/a
37	chr18:28743074-28743124	HRE	kidney:	n/a
38	chr18:28742633-28742683	ProgFib	skin:	n/a
39	chr18:28743074-28743124	GM12891	blood:	n/a
40	chr18:28743074-28743124	MCF10A-Er-Src	breast:	n/a
41	chr18:28743074-28743124	BJ	skin:	n/a
42	chr18:28742633-28742683	RPTEC	kidney:	n/a
43	chr18:28743074-28743124	HCPEpiC	choroid plexus:	n/a
44	chr18:28742633-28742683	NHBE	bronchial:	n/a
45	chr18:28743074-28743124	SK-N-SH_RA	brain:	n/a
46	chr18:28742633-28742683	A549	lung:	n/a
47	chr18:28743074-28743124	GM12878	blood:	n/a
48	chr18:28742633-28742683	HRCEpiC	kidney:	n/a
49	chr18:28743074-28743124	NH-A	brain:	n/a
50	chr18:28742633-28742683	HRPEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:28736989..28739079-chr18:28820985..28823154,2	MCF-7	breast:
2	chr18:28733790..28735614-chr18:28744987..28747684,2	MCF-7	breast:
3	chr18:28731581..28734602-chr18:28736991..28740120,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DSG1-2	chr18:28742498-28742752	ENSG00000265888.1

No data

Variant related genes	Relation type
DSC1	TF binding region
DSC1	CpG island

Extended variants
information (count: 261 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12959142	chr18:28739043-28739044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113505305	chr18:28739048-28739049	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs12957923	chr18:28739053-28739054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12958304	chr18:28739054-28739055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567303498	chr18:28739057-28739058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113687265	chr18:28739058-28739059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535954975	chr18:28739093-28739094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386802097	chr18:28739105-28739106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371489050	chr18:28739108-28739109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376559008	chr18:28739109-28739110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9959257	chr18:28739117-28739118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576830304	chr18:28739118-28739119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368969507	chr18:28739164-28739165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555935631	chr18:28739165-28739166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574189762	chr18:28739167-28739168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541607437	chr18:28739171-28739172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56176048	chr18:28739172-28739173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559052549	chr18:28739173-28739174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577305910	chr18:28739243-28739244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544622804	chr18:28739262-28739263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562919073	chr18:28739268-28739269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201060973	chr18:28739295-28739296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530837550	chr18:28739319-28739320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548965787	chr18:28739320-28739321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561227375	chr18:28739340-28739341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528322086	chr18:28739346-28739347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374630740	chr18:28739384-28739385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201036002	chr18:28739386-28739387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186695759	chr18:28739408-28739409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141456300	chr18:28739421-28739422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142676849	chr18:28739423-28739424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114213479	chr18:28739430-28739431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115257041	chr18:28739443-28739444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375039956	chr18:28739455-28739456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191709242	chr18:28739459-28739460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201620880	chr18:28739475-28739476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76603969	chr18:28739496-28739497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397766111	chr18:28739508-28739509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201678469	chr18:28739509-28739510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111804834	chr18:28739562-28739563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375300463	chr18:28739589-28739590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555831559	chr18:28739603-28739604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183978465	chr18:28739625-28739626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534942764	chr18:28739706-28739707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553119312	chr18:28739751-28739752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61248090	chr18:28739771-28739772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs372537083	chr18:28739778-28739779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549895603	chr18:28739791-28739792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577809604	chr18:28739807-28739808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562954027	chr18:28739812-28739813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28710600-28740800	Weak transcription	Primary T cells from cord blood	blood
2	chr18:28730400-28740800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:28730600-28742600	Weak transcription	Esophagus	oesophagus
4	chr18:28733400-28742000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr18:28734400-28741400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:28737400-28746400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr18:28737600-28742000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr18:28737600-28742200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:28737600-28742200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr18:28737600-28742400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr18:28737800-28741400	Weak transcription	NHEK	skin
12	chr18:28737800-28741600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:28737800-28742000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:28738000-28742200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr18:28740200-28741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr18:28740800-28741400	Enhancers	Primary T cells from cord blood	blood
17	chr18:28740800-28741800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr18:28741400-28742200	Enhancers	HMEC	breast
19	chr18:28741400-28742200	Enhancers	NHEK	skin
20	chr18:28741400-28742800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr18:28741400-28743200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr18:28741400-28743200	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr18:28741400-28743200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr18:28741600-28742000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:28741800-28742000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr18:28742000-28742200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:28742000-28742400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr18:28742000-28742600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr18:28742000-28742600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr18:28742000-28742600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr18:28742000-28742800	Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr18:28742000-28743000	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr18:28742000-28743000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr18:28742200-28742400	Flanking Active TSS	HMEC	breast
35	chr18:28742200-28742600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr18:28742200-28742600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr18:28742200-28742600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr18:28742200-28742800	Active TSS	Primary T cells fromperipheralblood	blood
39	chr18:28742200-28742800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:28742200-28743000	Flanking Active TSS	NHEK	skin
41	chr18:28742200-28743400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr18:28742400-28742600	Enhancers	HMEC	breast
43	chr18:28742400-28742800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr18:28742400-28742800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:28742400-28742800	Enhancers	Left Ventricle	heart
46	chr18:28742400-28743200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:28742400-28743200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr18:28742600-28742800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr18:28742600-28742800	Flanking Active TSS	HMEC	breast
50	chr18:28742600-28743200	Enhancers	Esophagus	oesophagus

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