Variant report

Variant	esv2760681
Chromosome Location	chr20:23165015-23174394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr20:23168432-23168802	Hela-S3	cervix:	n/a	n/a
2	CHD2	chr20:23168418-23168683	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr20:23168500-23168650	RPTEC	kidney:	n/a	n/a
4	CTCF	chr20:23168540-23168690	MCF-7	breast:	n/a	n/a
5	CTCF	chr20:23168560-23168710	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr20:23168540-23168690	NHEK	skin:	n/a	n/a
7	CTCF	chr20:23168633-23168638	MCF-7	breast:	n/a	n/a
8	CTCF	chr20:23167981-23168025	LNCaP	prostate:	n/a	n/a
9	CTCF	chr20:23168540-23168690	SAEC	small airway:	n/a	n/a
10	CTCF	chr20:23168340-23168490	MCF-7	breast:	n/a	n/a
11	CTCF	chr20:23168640-23168790	HMEC	breast:	n/a	chr20:23168746-23168759
12	CTCF	chr20:23168600-23168750	HMEC	breast:	n/a	n/a
13	CTCF	chr20:23168380-23168530	HMEC	breast:	n/a	n/a
14	CTCF	chr20:23168660-23168810	HEEpiC	esophagus:	n/a	chr20:23168746-23168759
15	CTCF	chr20:23168600-23168750	NHEK	skin:	n/a	n/a
16	CTCF	chr20:23168540-23168690	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr20:23168560-23168710	SAEC	small airway:	n/a	n/a
18	CTCF	chr20:23168520-23168670	HRE	kidney:	n/a	n/a
19	E2F6	chr20:23170638-23170758	K562	blood:	n/a	n/a
20	ELK1	chr20:23169531-23169693	GM12878	blood:	n/a	n/a
21	FOS	chr20:23168507-23168625	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr20:23168454-23168613	MCF10A-Er-Src	breast:	n/a	n/a
23	GATA1	chr20:23174126-23175152	PBDE	blood:	n/a	chr20:23174994-23175005 chr20:23175047-23175055 chr20:23174630-23174647 chr20:23174727-23174737
24	GATA3	chr20:23168316-23168731	MCF-7	breast:	n/a	n/a
25	GATA3	chr20:23170669-23170917	T-47D	breast:	n/a	n/a
26	HA-E2F1	chr20:23168262-23169816	MCF-7	breast:	n/a	chr20:23168548-23168557
27	JUN	chr20:23174190-23175244	K562	blood:	n/a	chr20:23174771-23174784 chr20:23174775-23174784
28	MAFF	chr20:23165467-23165664	HepG2	liver:	n/a	n/a
29	MAFK	chr20:23165386-23165689	IMR90	lung:	n/a	n/a
30	MAFK	chr20:23165479-23165601	HepG2	liver:	n/a	n/a
31	MAFK	chr20:23168548-23168673	H1-hESC	embryonic stem cell:	n/a	chr20:23168625-23168636 chr20:23168624-23168639
32	MAFK	chr20:23168657-23168677	HepG2	liver:	n/a	n/a
33	MAFK	chr20:23168427-23168778	Hela-S3	cervix:	n/a	chr20:23168625-23168636 chr20:23168624-23168639
34	MAFK	chr20:23165464-23165693	HepG2	liver:	n/a	n/a
35	MAX	chr20:23170564-23170871	K562	blood:	n/a	n/a
36	MAX	chr20:23168430-23168770	Hela-S3	cervix:	n/a	chr20:23168753-23168763
37	MYC	chr20:23169368-23169467	MCF-7	breast:	n/a	n/a
38	MYC	chr20:23168530-23168583	MCF-7	breast:	n/a	n/a
39	MYC	chr20:23169264-23169452	MCF-7	breast:	n/a	n/a
40	MYC	chr20:23169508-23169523	MCF-7	breast:	n/a	n/a
41	MYC	chr20:23168457-23168725	MCF10A-Er-Src	breast:	n/a	n/a
42	MYC	chr20:23169489-23169644	HUVEC	blood vessel:	n/a	n/a
43	NR2C2	chr20:23169019-23169804	GM12878	blood:	n/a	n/a
44	POLR2A	chr20:23170505-23172526	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr20:23168358-23168861	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr20:23173147-23173520	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr20:23169218-23169402	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr20:23172749-23172889	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr20:23169415-23169416	Gliobla	brain:	n/a	n/a
50	POLR2A	chr20:23168483-23168772	U87	brain:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23159913..23161586-chr20:23172008..23174904,2	K562	blood:
2	chr20:23169059..23171573-chr20:23172797..23175263,2	K562	blood:
3	chr20:23029649..23032465-chr20:23170734..23172386,2	MCF-7	breast:
4	chr20:23029838..23032400-chr20:23167323..23168960,2	MCF-7	breast:
5	chr20:23173550..23175379-chr20:23179178..23180724,2	K562	blood:
6	chr20:23135912..23138297-chr20:23172308..23174497,2	K562	blood:
7	chr20:23128680..23132693-chr20:23173285..23175662,3	K562	blood:
8	chr20:23173550..23175441-chr20:23179224..23181550,2	K562	blood:
9	chr20:23169059..23171573-chr20:23172797..23175263,2	K562	blood:
10	chr20:23167380..23172469-chr20:23172590..23175556,6	K562	blood:
11	chr20:23127669..23129280-chr20:23170551..23172653,2	K562	blood:
12	chr20:23139207..23141620-chr20:23172771..23174787,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD93-3	chr20:23168344-23169272	XLOC_013690
2	lnc-SSTR4-2	chr20:23167037-23167187	XLOC_013489
3	lnc-SSTR4-2	chr20:23170420-23170935	XLOC_013489
4	lnc-SSTR4-2	chr20:23168598-23170942	NONHSAT079044
5	lnc-SSTR4-2	chr20:23170420-23170904	NONHSAT079045
6	lnc-SSTR4-2	chr20:23167037-23167187	XLOC_013489
7	lnc-SSTR4-2	chr20:23168699-23168795	NONHSAT079045
8	lnc-SSTR4-2	chr20:23170420-23170944	XLOC_013489
9	lnc-SSTR4-2	chr20:23170420-23170907	XLOC_013489
10	lnc-CD93-3	chr20:23169415-23169661	XLOC_013690
11	lnc-SSTR4-2	chr20:23167037-23167187	XLOC_013489
12	lnc-SSTR4-2	chr20:23167850-23168277	XLOC_013489
13	lnc-SSTR4-2	chr20:23167850-23168277	XLOC_013489
14	lnc-SSTR4-2	chr20:23167850-23168277	XLOC_013489
15	lnc-SSTR4-2	chr20:23170420-23170935	XLOC_013489
16	lnc-SSTR4-2	chr20:23168765-23168795	XLOC_013489
17	lnc-SSTR4-2	chr20:23167037-23167077	XLOC_013489

No data

Variant related genes	Relation type
ENSG00000230387	TF binding region
ENSG00000201527	chromatin interactions
ENSG00000178726	chromatin interactions
ENSG00000230387	chromatin interactions
FILIP1L	miRNA target sites
FOXD1	miRNA target sites
VDAC1	miRNA target sites
MLLT4	miRNA target sites
ZNF609	miRNA target sites
FOXF2	miRNA target sites
FOXJ3	miRNA target sites

Extended variants
information (count: 382 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544266254	chr20:23165083-23165084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184196650	chr20:23165099-23165100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562330420	chr20:23165106-23165107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574481882	chr20:23165143-23165144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540336316	chr20:23165163-23165164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559960578	chr20:23165168-23165169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532742606	chr20:23165224-23165225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552310971	chr20:23165226-23165227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79058960	chr20:23165263-23165264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562883696	chr20:23165306-23165307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531878956	chr20:23165354-23165355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189071138	chr20:23165358-23165359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568427295	chr20:23165376-23165377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533906747	chr20:23165389-23165390	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs77099644	chr20:23165398-23165399	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs547892427	chr20:23165431-23165432	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs1099456	chr20:23165441-23165442	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544726830	chr20:23165442-23165443	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs538847988	chr20:23165451-23165452	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs180979551	chr20:23165460-23165461	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs564595915	chr20:23165495-23165496	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs575636790	chr20:23165517-23165518	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs538120695	chr20:23165532-23165533	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs554868148	chr20:23165552-23165553	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs145081983	chr20:23165574-23165575	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs559780739	chr20:23165587-23165588	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs539798240	chr20:23165591-23165592	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs142229553	chr20:23165610-23165611	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs146164029	chr20:23165633-23165634	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs546033190	chr20:23165644-23165645	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs201829194	chr20:23165704-23165705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562721545	chr20:23165746-23165747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185483813	chr20:23165756-23165757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369750146	chr20:23165879-23165880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs844937	chr20:23165941-23165942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190738490	chr20:23165978-23165979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547435928	chr20:23166000-23166001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570967034	chr20:23166075-23166076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550181073	chr20:23166083-23166084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571526016	chr20:23166084-23166085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139006219	chr20:23166099-23166100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569086368	chr20:23166135-23166136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181543521	chr20:23166168-23166169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs844938	chr20:23166201-23166202	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566134188	chr20:23166266-23166267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186017981	chr20:23166316-23166317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533823976	chr20:23166342-23166343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553484119	chr20:23166350-23166351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116400079	chr20:23166361-23166362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113590696	chr20:23166362-23166363	Weak transcription Enhancers	n/a	n/a	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
Cancer	20164919	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23161400-23166400	Weak transcription	Spleen	Spleen
2	chr20:23161800-23167000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr20:23161800-23167200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr20:23161800-23167600	Weak transcription	HSMM	muscle
5	chr20:23161800-23168000	Weak transcription	Right Ventricle	heart
6	chr20:23162000-23166200	Weak transcription	Placenta	Placenta
7	chr20:23162000-23174200	Weak transcription	Left Ventricle	heart
8	chr20:23166200-23168600	Enhancers	Placenta	Placenta
9	chr20:23166400-23166600	ZNF genes & repeats	Spleen	Spleen
10	chr20:23167000-23167400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:23167000-23167800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr20:23167200-23167800	ZNF genes & repeats	Lung	lung
13	chr20:23167200-23168600	Enhancers	Esophagus	oesophagus
14	chr20:23167200-23168600	Enhancers	Fetal Muscle Trunk	muscle
15	chr20:23167200-23170000	Weak transcription	Gastric	stomach
16	chr20:23167400-23168200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr20:23167400-23168400	Enhancers	Hela-S3	cervix
18	chr20:23167400-23169000	Enhancers	Stomach Mucosa	stomach
19	chr20:23167600-23167800	Enhancers	HSMM	muscle
20	chr20:23167600-23169400	Enhancers	Fetal Muscle Leg	muscle
21	chr20:23167800-23168600	Weak transcription	Lung	lung
22	chr20:23167800-23168600	Weak transcription	HSMM	muscle
23	chr20:23167800-23168600	Enhancers	HSMMtube	muscle
24	chr20:23167800-23169600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr20:23168000-23168200	Weak transcription	Spleen	Spleen
26	chr20:23168000-23168800	Enhancers	Right Ventricle	heart
27	chr20:23168000-23169000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr20:23168200-23168800	Enhancers	Psoas Muscle	Psoas
29	chr20:23168200-23169200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr20:23168400-23168600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr20:23168400-23168800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:23168400-23168800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr20:23168400-23169200	Enhancers	Duodenum Mucosa	Duodenum
34	chr20:23168400-23169400	Flanking Active TSS	Hela-S3	cervix
35	chr20:23168400-23169800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
36	chr20:23168600-23168800	Flanking Active TSS	Placenta	Placenta
37	chr20:23168600-23168800	Flanking Active TSS	HSMMtube	muscle
38	chr20:23168600-23169000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr20:23168600-23169000	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr20:23168600-23169200	Flanking Active TSS	Esophagus	oesophagus
41	chr20:23168600-23169400	Enhancers	HSMM	muscle
42	chr20:23168600-23169800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr20:23168600-23170000	Enhancers	Pancreas	Pancrea
44	chr20:23168600-23170800	Enhancers	Lung	lung
45	chr20:23168800-23169000	Active TSS	Fetal Kidney	kidney
46	chr20:23168800-23169000	Enhancers	Placenta	Placenta
47	chr20:23168800-23169000	Weak transcription	Spleen	Spleen
48	chr20:23168800-23169000	Enhancers	HSMMtube	muscle
49	chr20:23168800-23170200	Weak transcription	Right Ventricle	heart
50	chr20:23169000-23169200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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