Variant report

Variant	esv3329958
Chromosome Location	chr20:23167152-23171550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 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	chr20:23168540-23168690	HRPEpiC	eye:	n/a	n/a
4	CTCF	chr20:23168560-23168710	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr20:23168600-23168750	NHEK	skin:	n/a	n/a
6	CTCF	chr20:23168540-23168690	SAEC	small airway:	n/a	n/a
7	CTCF	chr20:23168660-23168810	HEEpiC	esophagus:	n/a	chr20:23168746-23168759
8	CTCF	chr20:23168380-23168530	HMEC	breast:	n/a	n/a
9	CTCF	chr20:23168340-23168490	MCF-7	breast:	n/a	n/a
10	CTCF	chr20:23168540-23168690	MCF-7	breast:	n/a	n/a
11	CTCF	chr20:23168600-23168750	HMEC	breast:	n/a	n/a
12	CTCF	chr20:23168633-23168638	MCF-7	breast:	n/a	n/a
13	CTCF	chr20:23167981-23168025	LNCaP	prostate:	n/a	n/a
14	CTCF	chr20:23168640-23168790	HMEC	breast:	n/a	chr20:23168746-23168759
15	CTCF	chr20:23168500-23168650	RPTEC	kidney:	n/a	n/a
16	CTCF	chr20:23168560-23168710	SAEC	small airway:	n/a	n/a
17	CTCF	chr20:23168540-23168690	NHEK	skin:	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	chr20:23168454-23168613	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr20:23168507-23168625	MCF10A-Er-Src	breast:	n/a	n/a
23	GATA3	chr20:23168316-23168731	MCF-7	breast:	n/a	n/a
24	GATA3	chr20:23170669-23170917	T-47D	breast:	n/a	n/a
25	HA-E2F1	chr20:23168262-23169816	MCF-7	breast:	n/a	chr20:23168548-23168557
26	MAFK	chr20:23168657-23168677	HepG2	liver:	n/a	n/a
27	MAFK	chr20:23168427-23168778	Hela-S3	cervix:	n/a	chr20:23168625-23168636 chr20:23168624-23168639
28	MAFK	chr20:23168548-23168673	H1-hESC	embryonic stem cell:	n/a	chr20:23168625-23168636 chr20:23168624-23168639
29	MAX	chr20:23170564-23170871	K562	blood:	n/a	n/a
30	MAX	chr20:23168430-23168770	Hela-S3	cervix:	n/a	chr20:23168753-23168763
31	MYC	chr20:23169508-23169523	MCF-7	breast:	n/a	n/a
32	MYC	chr20:23168457-23168725	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr20:23169264-23169452	MCF-7	breast:	n/a	n/a
34	MYC	chr20:23168530-23168583	MCF-7	breast:	n/a	n/a
35	MYC	chr20:23169368-23169467	MCF-7	breast:	n/a	n/a
36	MYC	chr20:23169489-23169644	HUVEC	blood vessel:	n/a	n/a
37	NR2C2	chr20:23169019-23169804	GM12878	blood:	n/a	n/a
38	POLR2A	chr20:23168617-23168696	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr20:23169218-23169402	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr20:23170725-23170750	MCF-7	breast:	n/a	n/a
41	POLR2A	chr20:23168483-23168772	U87	brain:	n/a	n/a
42	POLR2A	chr20:23168358-23168861	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr20:23170505-23172526	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr20:23169415-23169416	Gliobla	brain:	n/a	n/a
45	RAD21	chr20:23168400-23168756	Hela-S3	cervix:	n/a	n/a
46	RCOR1	chr20:23168512-23168742	Hela-S3	cervix:	n/a	n/a
47	RFX5	chr20:23170514-23170582	GM12878	blood:	n/a	n/a
48	RFX5	chr20:23168405-23168742	Hela-S3	cervix:	n/a	chr20:23168626-23168634
49	SMC3	chr20:23168360-23168824	Hela-S3	cervix:	n/a	chr20:23168749-23168759 chr20:23168425-23168432 chr20:23168650-23168657
50	STAT1	chr20:23169350-23169513	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:23169059..23171573-chr20:23172797..23175263,2	K562	blood:
2	chr20:23029838..23032400-chr20:23167323..23168960,2	MCF-7	breast:
3	chr20:23127669..23129280-chr20:23170551..23172653,2	K562	blood:
4	chr20:23029649..23032465-chr20:23170734..23172386,2	MCF-7	breast:

(count:16 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 205 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:205 , 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	rs563813666	chr20:23167209-23167210	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529403430	chr20:23167213-23167214	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548391947	chr20:23167214-23167215	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12625083	chr20:23167275-23167276	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148120579	chr20:23167287-23167288	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527448246	chr20:23167296-23167297	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547398807	chr20:23167311-23167312	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116223667	chr20:23167315-23167316	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141942552	chr20:23167342-23167343	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549359336	chr20:23167345-23167346	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376606399	chr20:23167347-23167348	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188764394	chr20:23167377-23167378	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191199835	chr20:23167429-23167430	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183408175	chr20:23167430-23167431	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535171615	chr20:23167458-23167459	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs117364548	chr20:23167534-23167535	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs578247627	chr20:23167545-23167546	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543883822	chr20:23167590-23167591	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563649992	chr20:23167591-23167592	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574111128	chr20:23167655-23167656	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542846291	chr20:23167656-23167657	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559771259	chr20:23167680-23167681	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150559366	chr20:23167686-23167687	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11278952	chr20:23167688-23167689	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527498150	chr20:23167693-23167694	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116640742	chr20:23167722-23167723	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564083918	chr20:23167743-23167744	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533057672	chr20:23167746-23167747	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376087196	chr20:23167771-23167772	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6036332	chr20:23167776-23167777	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549827603	chr20:23167814-23167815	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569295556	chr20:23167833-23167834	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535399677	chr20:23167837-23167838	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548806239	chr20:23167873-23167874	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs150676895	chr20:23167952-23167953	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs534944748	chr20:23167961-23167962	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs558380303	chr20:23167983-23167984	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs371135448	chr20:23167985-23167986	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs3886353	chr20:23167992-23167993	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs139887809	chr20:23167998-23167999	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs371655979	chr20:23168006-23168007	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs73311038	chr20:23168010-23168011	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs187371462	chr20:23168011-23168012	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs192256727	chr20:23168066-23168067	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs184040688	chr20:23168069-23168070	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs540876997	chr20:23168081-23168082	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs532555931	chr20:23168092-23168093	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs62206881	chr20:23168140-23168141	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368338191	chr20:23168143-23168144	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs533093457	chr20:23168171-23168172	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	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
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:78 , 50 per page) page: 1 2

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

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