Variant report

Variant	nsv523998
Chromosome Location	chr20:23405281-23406519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr20:23406102-23406401	K562	blood:	n/a	chr20:23406242-23406253 chr20:23406243-23406252 chr20:23406241-23406252
2	CEBPB	chr20:23406057-23406338	HepG2	liver:	n/a	chr20:23406242-23406253 chr20:23406243-23406252 chr20:23406241-23406252
3	GTF2F1	chr20:23405936-23406103	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr20:23405980-23406130	HepG2	liver:	n/a	n/a
5	MYC	chr20:23405967-23405989	MCF-7	breast:	n/a	n/a
6	MYC	chr20:23405998-23406064	MCF-7	breast:	n/a	n/a
7	POLR2A	chr20:23405948-23406077	MCF-7	breast:	n/a	n/a
8	POLR2A	chr20:23405947-23406092	MCF-7	breast:	n/a	n/a
9	SETDB1	chr20:23405968-23406910	U2OS	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23405592-23405642	AoSMC	blood vessel:	n/a
2	chr20:23405592-23405642	HCT-116	colon:	n/a
3	chr20:23405592-23405642	A549	lung:	n/a
4	chr20:23405592-23405642	SK-N-MC	brain:	n/a
5	chr20:23405592-23405642	IMR90	lung:	fetal
6	chr20:23405592-23405642	Hepatocyte	liver:	n/a
7	chr20:23405592-23405642	MCF-7	breast:	n/a
8	chr20:23405592-23405642	SK-N-SH_RA	brain:	n/a
9	chr20:23405592-23405642	HepG2	liver:	n/a
10	chr20:23405592-23405642	U87	brain:	n/a
11	chr20:23405592-23405642	HCM	heart:	n/a
12	chr20:23405592-23405642	HCPEpiC	choroid plexus:	n/a
13	chr20:23405592-23405642	HMEC	breast:	n/a
14	chr20:23405592-23405642	ProgFib	skin:	n/a
15	chr20:23405592-23405642	AG10803	skin:	n/a
16	chr20:23405592-23405642	Jurkat	blood:	n/a
17	chr20:23405592-23405642	NHBE	bronchial:	n/a
18	chr20:23405592-23405642	AG04449	skin:	fetal
19	chr20:23405592-23405642	GM12892	blood:	n/a
20	chr20:23405592-23405642	AG09309	skin:	n/a
21	chr20:23405592-23405642	Caco-2	colon:	n/a
22	chr20:23405592-23405642	AG09319	gingival:	n/a
23	chr20:23405592-23405642	HIPEpiC	eye:	n/a
24	chr20:23405592-23405642	PANC-1	pancreas:	n/a
25	chr20:23405592-23405642	HPAEpiC	pulmonary alveolar:	n/a
26	chr20:23405592-23405642	CMK	blood:	n/a
27	chr20:23405592-23405642	NH-A	brain:	n/a
28	chr20:23405592-23405642	SKMC	muscle:	n/a
29	chr20:23405592-23405642	HNPCEpiC	eye:	n/a
30	chr20:23405592-23405642	RPTEC	kidney:	n/a
31	chr20:23405592-23405642	NT2-D1	testis:	n/a
32	chr20:23405592-23405642	K562	blood:	n/a
33	chr20:23405592-23405642	HUVEC	blood vessel:	n/a
34	chr20:23405592-23405642	HRE	kidney:	n/a
35	chr20:23405592-23405642	LNCaP	prostate:	n/a
36	chr20:23405592-23405642	Hela-S3	cervix:	n/a
37	chr20:23405592-23405642	GM19239	blood:	n/a
38	chr20:23405592-23405642	HRPEpiC	eye:	n/a
39	chr20:23405592-23405642	SK-N-SH	brain:	n/a
40	chr20:23405592-23405642	HAEpiC	amniotic membrane:	n/a
41	chr20:23405592-23405642	GM12891	blood:	n/a
42	chr20:23405592-23405642	T-47D	breast:	n/a
43	chr20:23405592-23405642	BE2_C	brain:	n/a
44	chr20:23405592-23405642	HEK293	kidney:	embryo
45	chr20:23405592-23405642	GM12878	blood:	n/a
46	chr20:23405592-23405642	BJ	skin:	n/a
47	chr20:23405592-23405642	PrEC	prostate:	n/a
48	chr20:23405592-23405642	GM06990	blood:	n/a
49	chr20:23405592-23405642	PFSK-1	brain:	n/a
50	chr20:23405592-23405642	MCF10A-Er-Src	breast:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23400281..23403754-chr20:23404807..23406566,3	MCF-7	breast:
2	chr20:23402152..23403758-chr20:23404630..23407146,2	K562	blood:
3	chr20:23400058..23403758-chr20:23404517..23407833,5	K562	blood:
4	chr20:23340954..23342681-chr20:23403293..23405458,3	MCF-7	breast:

No data

Variant related genes	Relation type
NAPB	TF binding region
NAPB	CpG island
ENSG00000125814	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2180139	chr20:23405281-23405282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185840097	chr20:23405319-23405320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189486853	chr20:23405320-23405321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577674807	chr20:23405350-23405351	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543428698	chr20:23405426-23405427	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376871044	chr20:23405454-23405455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557026220	chr20:23405479-23405480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200753780	chr20:23405492-23405493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs3040403	chr20:23405493-23405494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200801863	chr20:23405494-23405495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542992349	chr20:23405515-23405516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559859137	chr20:23405551-23405552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73610703	chr20:23405564-23405565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528682010	chr20:23405593-23405594	Weak transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs77908916	chr20:23405626-23405627	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565022438	chr20:23405634-23405635	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs139871748	chr20:23405639-23405640	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550556943	chr20:23405644-23405645	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567592374	chr20:23405660-23405661	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78050888	chr20:23405682-23405683	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143328970	chr20:23405687-23405688	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565837271	chr20:23405691-23405692	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150775388	chr20:23405692-23405693	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373687665	chr20:23405768-23405769	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs77850737	chr20:23405796-23405797	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs181475556	chr20:23405806-23405807	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186167741	chr20:23405828-23405829	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376368955	chr20:23405844-23405845	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573565958	chr20:23405880-23405881	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76923026	chr20:23405890-23405891	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78916169	chr20:23405904-23405905	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190145041	chr20:23405922-23405923	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545174998	chr20:23405932-23405933	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs139190453	chr20:23405955-23405956	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs575324549	chr20:23406015-23406016	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs556421637	chr20:23406016-23406017	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs114738764	chr20:23406054-23406055	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530059942	chr20:23406059-23406060	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs549223133	chr20:23406091-23406092	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs149964131	chr20:23406103-23406104	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs528426057	chr20:23406104-23406105	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs6137945	chr20:23406136-23406137	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs59852988	chr20:23406137-23406138	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs561529520	chr20:23406194-23406195	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201845334	chr20:23406256-23406257	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs138141994	chr20:23406259-23406260	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs554311257	chr20:23406263-23406264	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs145191428	chr20:23406303-23406304	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs80028511	chr20:23406332-23406333	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs535885667	chr20:23406356-23406357	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23402400-23406000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23402600-23405600	Enhancers	Primary T cells from cord blood	blood
3	chr20:23402600-23405600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr20:23402600-23405800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr20:23402600-23405800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:23402600-23406000	Weak transcription	NHEK	skin
7	chr20:23402800-23405600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr20:23403200-23406200	Enhancers	Fetal Thymus	thymus
9	chr20:23405200-23405600	Enhancers	HepG2	liver
10	chr20:23405600-23406200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr20:23405600-23406200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr20:23405600-23406200	Flanking Active TSS	HepG2	liver
13	chr20:23405800-23406200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr20:23405800-23406200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr20:23406000-23406200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr20:23406000-23406200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:23406000-23406600	Enhancers	NHEK	skin
18	chr20:23406200-23406400	Enhancers	HepG2	liver

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