Variant report

Variant	esv3373030
Chromosome Location	chr20:23406702-23414350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:23413900-23414050	HL-60	blood:	n/a	n/a
2	FOXA2	chr20:23407073-23407326	A549	lung:	n/a	n/a
3	FOXA2	chr20:23406898-23407578	A549	lung:	n/a	n/a
4	JUN	chr20:23413454-23413648	K562	blood:	n/a	n/a
5	POLR2A	chr20:23406730-23406864	MCF-7	breast:	n/a	n/a
6	SETDB1	chr20:23405968-23406910	U2OS	brain:	n/a	n/a
7	YY1	chr20:23406569-23406843	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF384	chr20:23406563-23406830	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:23402010..23403710-chr20:23413584..23415342,2	K562	blood:
2	chr10:38581321..38584038-chr20:23412027..23414957,2	K562	blood:
3	chr20:23402152..23403758-chr20:23404630..23407146,2	K562	blood:
4	chr20:23400058..23403758-chr20:23404517..23407833,5	K562	blood:

No data

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

Extended variants
information (count: 66 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561238874	chr20:23406715-23406716	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531333748	chr20:23406744-23406745	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574909483	chr20:23406753-23406754	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs540245441	chr20:23406756-23406757	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560583877	chr20:23406761-23406762	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs528388545	chr20:23406766-23406767	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs6132612	chr20:23406771-23406772	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs565027004	chr20:23406781-23406782	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs571226894	chr20:23406790-23406791	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs530749158	chr20:23406792-23406793	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs550617069	chr20:23406805-23406806	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs13040409	chr20:23406811-23406812	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567234223	chr20:23406817-23406818	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs144626521	chr20:23406847-23406848	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370450489	chr20:23406848-23406849	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs538793087	chr20:23406900-23406901	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145917568	chr20:23406951-23406952	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374864175	chr20:23406976-23406977	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs566139021	chr20:23406977-23406978	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs369261378	chr20:23406978-23406979	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs553646491	chr20:23407012-23407013	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs558842462	chr20:23407029-23407030	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201116878	chr20:23407038-23407039	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs138485495	chr20:23407047-23407048	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374851085	chr20:23407051-23407052	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569073499	chr20:23407073-23407074	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs538036536	chr20:23407120-23407121	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs202238452	chr20:23407236-23407237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533319170	chr20:23407257-23407258	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555170719	chr20:23407515-23407516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369265178	chr20:23407522-23407523	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574836974	chr20:23407574-23407575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs192494917	chr20:23407740-23407741	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs199822656	chr20:23407789-23407790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148149671	chr20:23413631-23413632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537720798	chr20:23413661-23413662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554861301	chr20:23413708-23413709	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141086717	chr20:23413727-23413728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540015080	chr20:23413733-23413734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187449798	chr20:23413734-23413735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs57368405	chr20:23413804-23413805	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545504817	chr20:23413805-23413806	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150283290	chr20:23413810-23413811	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542519775	chr20:23413814-23413815	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531361676	chr20:23413905-23413906	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560901113	chr20:23413934-23413935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531359699	chr20:23413935-23413936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562391100	chr20:23413947-23413948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs191578447	chr20:23413962-23413963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528020583	chr20:23414050-23414051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	21364760	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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