Variant report

Variant	esv3436842
Chromosome Location	chr20:23470252-23471750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:367)
Chromatin interactive
region (count:0)
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	CEBPB	chr20:23471614-23471730	HepG2	liver:	n/a	n/a
2	MYC	chr20:23470476-23470527	MCF-7	breast:	n/a	n/a
3	POLR2A	chr20:23471706-23471726	MCF-7	breast:	n/a	n/a
4	POLR2A	chr20:23470417-23470546	MCF-7	breast:	n/a	n/a
5	USF1	chr20:23470393-23470547	GM12878	blood:	n/a	chr20:23470456-23470467 chr20:23470451-23470472
6	USF1	chr20:23470369-23470575	GM12878	blood:	n/a	chr20:23470456-23470467 chr20:23470451-23470472
7	USF1	chr20:23470344-23470564	HepG2	liver:	n/a	chr20:23470456-23470467 chr20:23470451-23470472
8	USF1	chr20:23470336-23470554	SK-N-SH_RA	brain:	n/a	chr20:23470456-23470467 chr20:23470451-23470472

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23471737-23471787	NH-A	brain:	n/a
2	chr20:23471737-23471787	NH-A	brain:	n/a
3	chr20:23471711-23471761	HRCEpiC	kidney:	n/a
4	chr20:23471627-23471677	T-47D	breast:	n/a
5	chr20:23471711-23471761	HCPEpiC	choroid plexus:	n/a
6	chr20:23471737-23471787	BJ	skin:	n/a
7	chr20:23470461-23470511	HCT-116	colon:	n/a
8	chr20:23470274-23470324	BJ	skin:	n/a
9	chr20:23471627-23471677	GM06990	blood:	n/a
10	chr20:23471627-23471677	K562	blood:	n/a
11	chr20:23470274-23470324	MCF10A-Er-Src	breast:	n/a
12	chr20:23471737-23471787	H1-hESC	embryonic stem cell:	embryo
13	chr20:23470274-23470324	AG04450	lung:	fetal
14	chr20:23471737-23471787	HMEC	breast:	n/a
15	chr20:23470274-23470324	A549	lung:	n/a
16	chr20:23470274-23470324	BE2_C	brain:	n/a
17	chr20:23470274-23470324	AoSMC	blood vessel:	n/a
18	chr20:23471693-23471743	HPAEpiC	pulmonary alveolar:	n/a
19	chr20:23471737-23471787	AoSMC	blood vessel:	n/a
20	chr20:23471711-23471761	AG10803	skin:	n/a
21	chr20:23470274-23470324	HPAEpiC	pulmonary alveolar:	n/a
22	chr20:23471711-23471761	HCF	heart:	n/a
23	chr20:23471693-23471743	PFSK-1	brain:	n/a
24	chr20:23471627-23471677	NHBE	bronchial:	n/a
25	chr20:23470461-23470511	BJ	skin:	n/a
26	chr20:23471737-23471787	BE2_C	brain:	n/a
27	chr20:23471711-23471761	HMEC	breast:	n/a
28	chr20:23471627-23471677	HCM	heart:	n/a
29	chr20:23470461-23470511	GM19239	blood:	n/a
30	chr20:23470274-23470324	K562	blood:	n/a
31	chr20:23470274-23470324	PANC-1	pancreas:	n/a
32	chr20:23470274-23470324	Hepatocyte	liver:	n/a
33	chr20:23471693-23471743	HUVEC	blood vessel:	n/a
34	chr20:23471711-23471761	U87	brain:	n/a
35	chr20:23470274-23470324	T-47D	breast:	n/a
36	chr20:23471627-23471677	LNCaP	prostate:	n/a
37	chr20:23471627-23471677	HEK293	kidney:	embryo
38	chr20:23470274-23470324	GM12891	blood:	n/a
39	chr20:23470274-23470324	HRPEpiC	eye:	n/a
40	chr20:23470274-23470324	SK-N-MC	brain:	n/a
41	chr20:23470461-23470511	H1-hESC	embryonic stem cell:	embryo
42	chr20:23471711-23471761	MCF10A-Er-Src	breast:	n/a
43	chr20:23471693-23471743	HL-60	blood:	n/a
44	chr20:23470461-23470511	GM12892	blood:	n/a
45	chr20:23471627-23471677	HL-60	blood:	n/a
46	chr20:23471737-23471787	SAEC	small airway:	n/a
47	chr20:23471627-23471677	HUVEC	blood vessel:	n/a
48	chr20:23470274-23470324	AG09319	gingival:	n/a
49	chr20:23471737-23471787	SK-N-SH_RA	brain:	n/a
50	chr20:23471627-23471677	U87	brain:	n/a

No data

Variant related genes	Relation type
CST8	TF binding region
CST8	CpG island

Extended variants
information (count: 93 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538470840	chr20:23470326-23470327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141666829	chr20:23470337-23470338	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs147081901	chr20:23470410-23470411	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs117058259	chr20:23470411-23470412	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs566231280	chr20:23470414-23470415	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs11700120	chr20:23470419-23470420	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147730735	chr20:23470434-23470435	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs554597714	chr20:23470441-23470442	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs574396888	chr20:23470560-23470561	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs540876295	chr20:23470578-23470579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181498345	chr20:23470585-23470586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57693501	chr20:23470643-23470644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139883004	chr20:23470644-23470645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397805017	chr20:23470653-23470654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141105599	chr20:23470657-23470658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185888446	chr20:23470676-23470677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189613711	chr20:23470677-23470678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3991604	chr20:23470719-23470720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186071093	chr20:23470720-23470721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3991605	chr20:23470722-23470723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367617675	chr20:23470733-23470734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3991606	chr20:23470744-23470745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548321625	chr20:23470745-23470746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3991607	chr20:23470746-23470747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3991608	chr20:23470747-23470748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199947573	chr20:23470751-23470752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3991609	chr20:23470758-23470759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111053016	chr20:23470768-23470769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2038387	chr20:23470772-23470773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3067688	chr20:23470774-23470775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570495882	chr20:23470782-23470783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3991595	chr20:23470783-23470784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546838274	chr20:23470784-23470785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566675321	chr20:23470795-23470796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538961936	chr20:23470796-23470797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3991596	chr20:23470799-23470800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3991597	chr20:23470800-23470801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34299020	chr20:23470807-23470808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71183343	chr20:23470808-23470809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372685345	chr20:23470809-23470810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13044324	chr20:23470819-23470820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3991598	chr20:23470820-23470821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3067700	chr20:23470832-23470833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552385057	chr20:23470833-23470834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3991599	chr20:23470836-23470837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556265345	chr20:23470837-23470838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568149302	chr20:23470845-23470846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375828771	chr20:23470846-23470847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368465403	chr20:23470847-23470848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371864473	chr20:23470848-23470849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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	21364760	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23465800-23471000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr20:23469400-23470600	Enhancers	Primary B cells from cord blood	blood
3	chr20:23469600-23470600	Enhancers	Primary B cells from peripheral blood	blood
4	chr20:23469600-23470600	Enhancers	Fetal Muscle Leg	muscle
5	chr20:23469600-23473200	Weak transcription	Gastric	stomach
6	chr20:23471400-23471600	Enhancers	HepG2	liver
7	chr20:23471600-23471800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr20:23471600-23472200	Enhancers	K562	blood
9	chr20:23471600-23472400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:23471600-23473400	Bivalent Enhancer	HepG2	liver

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