Variant report

Variant	nsv965868
Chromosome Location	chr20:26232826-26238358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:26233029-26233177	Fibrobl	skin:	n/a	n/a
2	CTCF	chr20:26233020-26233170	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr20:26232897-26233166	K562	blood:	n/a	n/a
4	CTCF	chr20:26232983-26233183	K562	blood:	n/a	n/a
5	CTCF	chr20:26233020-26233170	HepG2	liver:	n/a	n/a
6	CTCF	chr20:26234091-26234141	A549	lung:	n/a	n/a
7	CTCF	chr20:26234063-26234152	Fibrobl	skin:	n/a	n/a
8	CTCF	chr20:26233013-26233143	MCF-7	breast:	n/a	n/a
9	CTCF	chr20:26237840-26237990	HepG2	liver:	n/a	n/a
10	CTCF	chr20:26234099-26234134	MCF-7	breast:	n/a	n/a
11	CTCF	chr20:26233017-26233142	A549	lung:	n/a	n/a
12	CTCF	chr20:26232905-26233230	K562	blood:	n/a	n/a
13	CTCF	chr20:26233020-26233170	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr20:26232997-26233175	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr20:26233045-26233161	MCF-7	breast:	n/a	n/a
16	CTCF	chr20:26233035-26233162	Gliobla	brain:	n/a	n/a
17	CTCF	chr20:26234060-26234210	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr20:26234096-26234127	MCF-7	breast:	n/a	n/a
19	CTCF	chr20:26233084-26233132	GM12891	blood:	n/a	n/a
20	CTCF	chr20:26234112-26234141	MCF-7	breast:	n/a	n/a
21	CTCF	chr20:26233012-26233153	MCF-7	breast:	n/a	n/a
22	CTCF	chr20:26234069-26234106	LNCaP	prostate:	n/a	n/a
23	POLR2A	chr20:26235597-26235797	K562	blood:	n/a	n/a
24	RAD21	chr20:26233950-26234206	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr20:26233899-26234298	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr20:26234095-26234102	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr20:26232858-26233236	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
MIR663A	TF binding region

Extended variants
information (count: 208 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138614462	chr20:26232827-26232828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144359087	chr20:26232831-26232832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372085739	chr20:26232832-26232833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56840407	chr20:26232853-26232854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73357496	chr20:26232865-26232866	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs569115873	chr20:26232872-26232873	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs546213734	chr20:26232896-26232897	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs537989854	chr20:26232937-26232938	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs149054295	chr20:26232946-26232947	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs138472488	chr20:26232956-26232957	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs144745465	chr20:26232964-26232965	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs187987684	chr20:26232971-26232972	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs375274068	chr20:26233039-26233040	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs574320262	chr20:26233051-26233052	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs845803	chr20:26233053-26233054	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs76310313	chr20:26233075-26233076	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs553652750	chr20:26233089-26233090	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs34049254	chr20:26233167-26233168	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs181920696	chr20:26233187-26233188	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs377129830	chr20:26233217-26233218	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs79709427	chr20:26233282-26233283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545735137	chr20:26233287-26233288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370861638	chr20:26233294-26233295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78921229	chr20:26233340-26233341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531326973	chr20:26233356-26233357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368715488	chr20:26233368-26233369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372729487	chr20:26233369-26233370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75222371	chr20:26233397-26233398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561748097	chr20:26233426-26233427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78561677	chr20:26233456-26233457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527344701	chr20:26233457-26233458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74513173	chr20:26233464-26233465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs845804	chr20:26233467-26233468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs566903245	chr20:26233490-26233491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539136932	chr20:26233501-26233502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371677852	chr20:26233511-26233512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368166870	chr20:26233512-26233513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532849272	chr20:26233534-26233535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77216826	chr20:26233540-26233541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75375625	chr20:26233554-26233555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186140431	chr20:26233580-26233581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78501709	chr20:26233585-26233586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368255192	chr20:26233608-26233609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200816919	chr20:26233613-26233614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565331057	chr20:26233615-26233616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201338617	chr20:26233623-26233624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201638152	chr20:26233653-26233654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74682578	chr20:26233669-26233670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115467776	chr20:26233681-26233682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569280242	chr20:26233717-26233718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26232400-26236000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:26233000-26233800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr20:26233200-26234200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr20:26233400-26233800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr20:26233400-26233800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr20:26233600-26234000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr20:26233600-26234000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr20:26236000-26236400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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