Variant report

Variant	nsv576822
Chromosome Location	chr18:44774570-44775573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr18:44774919-44775077	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr18:44775313-44775375	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr18:44775170-44775530	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr18:44774693-44775689	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr18:44775000-44775150	GM12866	blood:	n/a	n/a
6	CTCF	chr18:44775195-44775264	Fibrobl	skin:	n/a	n/a
7	CTCF	chr18:44775460-44775610	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr18:44775457-44775563	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr18:44774394-44775724	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr18:44774389-44775902	H1-hESC	embryonic stem cell:	n/a	n/a
11	GTF2F1	chr18:44775307-44775371	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr18:44774377-44775738	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr18:44774796-44775673	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr18:44774461-44775722	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr18:44774816-44776884	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr18:44774788-44777375	H1-neurons	neurons:	n/a	n/a
17	SIN3A	chr18:44775472-44775573	H1-hESC	embryonic stem cell:	n/a	n/a
18	SUZ12	chr18:44774597-44775820	H1-hESC	embryonic stem cell:	n/a	n/a
19	TBP	chr18:44775353-44775672	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF12	chr18:44775317-44775645	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr18:44775198-44775471	H1-hESC	embryonic stem cell:	n/a	n/a
22	USF1	chr18:44775132-44775656	H1-hESC	embryonic stem cell:	n/a	n/a
23	USF1	chr18:44775081-44775506	H1-hESC	embryonic stem cell:	n/a	n/a
24	USF2	chr18:44775136-44775601	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF143	chr18:44775361-44775716	H1-hESC	embryonic stem cell:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44774846-44774896	ProgFib	skin:	n/a
2	chr18:44774846-44774896	GM19239	blood:	n/a
3	chr18:44775413-44775463	AG10803	skin:	n/a
4	chr18:44775009-44775059	HEEpiC	esophagus:	n/a
5	chr18:44774846-44774896	ECC-1	luminal epithelium:	n/a
6	chr18:44774846-44774896	HRE	kidney:	n/a
7	chr18:44774923-44774973	SK-N-SH_RA	brain:	n/a
8	chr18:44774846-44774896	HEK293	kidney:	embryo
9	chr18:44775009-44775059	ovcar-3	ovarian:	n/a
10	chr18:44775009-44775059	HNPCEpiC	eye:	n/a
11	chr18:44774846-44774896	HMEC	breast:	n/a
12	chr18:44775009-44775059	AG09319	gingival:	n/a
13	chr18:44775009-44775059	ECC-1	luminal epithelium:	n/a
14	chr18:44774846-44774896	SK-N-SH	brain:	n/a
15	chr18:44774923-44774973	HMEC	breast:	n/a
16	chr18:44775009-44775059	AoSMC	blood vessel:	n/a
17	chr18:44774923-44774973	K562	blood:	n/a
18	chr18:44774846-44774896	NH-A	brain:	n/a
19	chr18:44775413-44775463	PrEC	prostate:	n/a
20	chr18:44775009-44775059	NT2-D1	testis:	n/a
21	chr18:44775413-44775463	Hepatocyte	liver:	n/a
22	chr18:44774846-44774896	HNPCEpiC	eye:	n/a
23	chr18:44774846-44774896	HUVEC	blood vessel:	n/a
24	chr18:44775009-44775059	AG10803	skin:	n/a
25	chr18:44774923-44774973	HCPEpiC	choroid plexus:	n/a
26	chr18:44775009-44775059	H1-hESC	embryonic stem cell:	embryo
27	chr18:44774923-44774973	GM06990	blood:	n/a
28	chr18:44774923-44774973	GM12892	blood:	n/a
29	chr18:44774846-44774896	SK-N-MC	brain:	n/a
30	chr18:44774923-44774973	HCF	heart:	n/a
31	chr18:44775413-44775463	Hela-S3	cervix:	n/a
32	chr18:44775413-44775463	NHBE	bronchial:	n/a
33	chr18:44774846-44774896	SK-N-SH_RA	brain:	n/a
34	chr18:44775413-44775463	MCF10A-Er-Src	breast:	n/a
35	chr18:44774846-44774896	RPTEC	kidney:	n/a
36	chr18:44774923-44774973	ECC-1	luminal epithelium:	n/a
37	chr18:44774846-44774896	U87	brain:	n/a
38	chr18:44774923-44774973	PFSK-1	brain:	n/a
39	chr18:44775413-44775463	NT2-D1	testis:	n/a
40	chr18:44775009-44775059	HepG2	liver:	n/a
41	chr18:44774846-44774896	T-47D	breast:	n/a
42	chr18:44774923-44774973	BJ	skin:	n/a
43	chr18:44774923-44774973	H1-hESC	embryonic stem cell:	embryo
44	chr18:44774846-44774896	GM06990	blood:	n/a
45	chr18:44775413-44775463	SK-N-SH_RA	brain:	n/a
46	chr18:44774923-44774973	AG04449	skin:	fetal
47	chr18:44775009-44775059	CMK	blood:	n/a
48	chr18:44775009-44775059	HPAEpiC	pulmonary alveolar:	n/a
49	chr18:44775413-44775463	AoSMC	blood vessel:	n/a
50	chr18:44774846-44774896	AG09309	skin:	n/a

No data

Variant related genes	Relation type
SKOR2	TF binding region
SKOR2	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111300606	chr18:44774674-44774675	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538819920	chr18:44774688-44774689	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558842471	chr18:44774715-44774716	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572355272	chr18:44774813-44774814	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188936589	chr18:44774842-44774843	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373929593	chr18:44774853-44774854	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539853928	chr18:44774971-44774972	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561108578	chr18:44775019-44775020	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202063106	chr18:44775028-44775029	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553394854	chr18:44775093-44775094	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573556023	chr18:44775112-44775113	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542738210	chr18:44775117-44775118	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376365161	chr18:44775124-44775125	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562428417	chr18:44775173-44775174	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531550684	chr18:44775183-44775184	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371202595	chr18:44775210-44775211	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549741504	chr18:44775219-44775220	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574685057	chr18:44775244-44775245	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545196247	chr18:44775361-44775362	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565183201	chr18:44775390-44775391	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527623475	chr18:44775421-44775422	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs542732248	chr18:44775422-44775423	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547709375	chr18:44775423-44775424	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs567677759	chr18:44775466-44775467	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs376817644	chr18:44775498-44775499	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530026226	chr18:44775523-44775524	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs550260759	chr18:44775570-44775571	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs75440550	chr18:44775571-44775572	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs181508916	chr18:44775572-44775573	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
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
Breast cancer	21785460	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
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
Prostate cancer	22341455	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44772800-44775400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr18:44773200-44774800	Bivalent Enhancer	Lung	lung
3	chr18:44773400-44774800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr18:44773600-44775000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:44773800-44774800	Enhancers	Liver	Liver
6	chr18:44774200-44774800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:44774200-44774800	Weak transcription	Pancreas	Pancrea
8	chr18:44774200-44775000	Bivalent Enhancer	Right Ventricle	heart
9	chr18:44774400-44774600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:44774400-44774600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr18:44774400-44774800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:44774400-44774800	Weak transcription	Gastric	stomach
13	chr18:44774600-44774800	Bivalent/Poised TSS	Psoas Muscle	Psoas
14	chr18:44774600-44775200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr18:44774800-44775000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr18:44774800-44775000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:44774800-44775000	Bivalent Enhancer	Liver	Liver
18	chr18:44774800-44775000	Bivalent Enhancer	Fetal Brain Female	brain
19	chr18:44774800-44775000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr18:44774800-44775200	Bivalent Enhancer	Spleen	Spleen
21	chr18:44774800-44775400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:44774800-44775400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr18:44774800-44775400	Enhancers	Gastric	stomach
24	chr18:44774800-44775600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr18:44774800-44775600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:44774800-44775600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:44774800-44775600	ZNF genes & repeats	Pancreas	Pancrea
28	chr18:44775000-44775200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:44775000-44775200	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr18:44775000-44775200	Bivalent Enhancer	Fetal Stomach	stomach
31	chr18:44775000-44775200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
32	chr18:44775000-44775600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr18:44775000-44775800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr18:44775200-44775400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:44775200-44775600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr18:44775400-44775600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
37	chr18:44775400-44775600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
38	chr18:44775400-44775600	Bivalent Enhancer	Brain Germinal Matrix	brain
39	chr18:44775400-44775600	Bivalent Enhancer	Left Ventricle	heart
40	chr18:44775400-44775600	Bivalent Enhancer	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links