Variant report

Variant	esv2586815
Chromosome Location	chr20:23671155-23674559
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:23674000-23674029	Lung_OC	lung:	n/a	n/a
2	CTCF	chr20:23671663-23671721	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr20:23672360-23672510	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr20:23674080-23674230	BJ	skin:	n/a	chr20:23674207-23674220
5	CTCF	chr20:23674300-23674450	HepG2	liver:	n/a	n/a
6	CTCF	chr20:23673020-23673170	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr20:23673640-23673790	NHDF-neo	bronchial:	n/a	n/a
8	CTCF	chr20:23674201-23674231	MCF-7	breast:	n/a	chr20:23674207-23674220
9	CTCF	chr20:23673000-23673150	WERI-Rb-1	eye:	n/a	n/a
10	FOS	chr20:23673767-23674304	HUVEC	blood vessel:	n/a	chr20:23673991-23674000 chr20:23674089-23674098 chr20:23673992-23673999 chr20:23673989-23674000 chr20:23673990-23674000 chr20:23673990-23673999
11	FOS	chr20:23673902-23674066	MCF10A-Er-Src	breast:	n/a	chr20:23673991-23674000 chr20:23673992-23673999 chr20:23673989-23674000 chr20:23673990-23674000 chr20:23673990-23673999
12	FOS	chr20:23673928-23674031	MCF10A-Er-Src	breast:	n/a	chr20:23673991-23674000 chr20:23673992-23673999 chr20:23673989-23674000 chr20:23673990-23674000 chr20:23673990-23673999
13	FOS	chr20:23673924-23674126	MCF10A-Er-Src	breast:	n/a	chr20:23673991-23674000 chr20:23674089-23674098 chr20:23673992-23673999 chr20:23673989-23674000 chr20:23673990-23674000 chr20:23673990-23673999
14	FOSL2	chr20:23673824-23674187	HepG2	liver:	n/a	chr20:23673991-23674000 chr20:23674089-23674098 chr20:23673992-23673999 chr20:23673990-23674000 chr20:23673990-23673999
15	GATA2	chr20:23673863-23674469	HUVEC	blood vessel:	n/a	n/a
16	JUN	chr20:23673927-23674104	K562	blood:	n/a	chr20:23673991-23674000 chr20:23674089-23674098 chr20:23673992-23673999 chr20:23673990-23674000 chr20:23673990-23673999
17	JUN	chr20:23673820-23674180	HUVEC	blood vessel:	n/a	chr20:23673991-23674000 chr20:23674089-23674098 chr20:23673992-23673999 chr20:23673990-23674000 chr20:23673990-23673999
18	JUND	chr20:23673916-23674106	HepG2	liver:	n/a	chr20:23673991-23674000 chr20:23673989-23674000 chr20:23674089-23674098 chr20:23673992-23673999 chr20:23673990-23674000 chr20:23673990-23673999
19	JUND	chr20:23673910-23674114	K562	blood:	n/a	chr20:23673991-23674000 chr20:23673989-23674000 chr20:23674089-23674098 chr20:23673992-23673999 chr20:23673990-23674000 chr20:23673990-23673999
20	MAFF	chr20:23672598-23672688	HepG2	liver:	n/a	n/a
21	MAFK	chr20:23672507-23672714	HepG2	liver:	n/a	n/a
22	MAFK	chr20:23672505-23672715	HepG2	liver:	n/a	n/a
23	MAFK	chr20:23672430-23672745	IMR90	lung:	n/a	n/a
24	MAX	chr20:23673733-23674007	SK-N-SH	brain:	n/a	n/a
25	MYC	chr20:23673903-23674272	HUVEC	blood vessel:	n/a	n/a
26	MYC	chr20:23673875-23674103	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr20:23673782-23674293	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr20:23673670-23674324	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr20:23672066-23672100	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr20:23673813-23674110	HUVEC	blood vessel:	n/a	n/a
31	RXRA	chr20:23672255-23672598	HepG2	liver:	n/a	chr20:23672440-23672456 chr20:23672442-23672456
32	TCF12	chr20:23673730-23674160	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23671108-23671158	SK-N-MC	brain:	n/a
2	chr20:23671108-23671158	HUVEC	blood vessel:	n/a
3	chr20:23671108-23671158	HCT-116	colon:	n/a
4	chr20:23671108-23671158	NHBE	bronchial:	n/a
5	chr20:23671108-23671158	ovcar-3	ovarian:	n/a
6	chr20:23671108-23671158	HRE	kidney:	n/a
7	chr20:23671108-23671158	T-47D	breast:	n/a
8	chr20:23671108-23671158	Hepatocyte	liver:	n/a
9	chr20:23671108-23671158	RPTEC	kidney:	n/a
10	chr20:23671108-23671158	U87	brain:	n/a
11	chr20:23671108-23671158	PFSK-1	brain:	n/a
12	chr20:23671108-23671158	SKMC	muscle:	n/a
13	chr20:23671108-23671158	NB4	blood:	n/a
14	chr20:23671108-23671158	GM12878	blood:	n/a
15	chr20:23671108-23671158	Caco-2	colon:	n/a
16	chr20:23671108-23671158	HNPCEpiC	eye:	n/a
17	chr20:23671108-23671158	LNCaP	prostate:	n/a
18	chr20:23671108-23671158	HCPEpiC	choroid plexus:	n/a
19	chr20:23671108-23671158	HRCEpiC	kidney:	n/a
20	chr20:23671108-23671158	AG09319	gingival:	n/a
21	chr20:23671108-23671158	NHDF-neo	bronchial:	n/a
22	chr20:23671108-23671158	HMEC	breast:	n/a
23	chr20:23671108-23671158	SK-N-SH_RA	brain:	n/a
24	chr20:23671108-23671158	AG04449	skin:	fetal
25	chr20:23671108-23671158	NH-A	brain:	n/a
26	chr20:23671108-23671158	ECC-1	luminal epithelium:	n/a
27	chr20:23671108-23671158	HIPEpiC	eye:	n/a
28	chr20:23671108-23671158	HepG2	liver:	n/a
29	chr20:23671108-23671158	Jurkat	blood:	n/a
30	chr20:23671108-23671158	IMR90	lung:	fetal
31	chr20:23671108-23671158	HEEpiC	esophagus:	n/a
32	chr20:23671108-23671158	BE2_C	brain:	n/a
33	chr20:23671108-23671158	AG09309	skin:	n/a
34	chr20:23671108-23671158	HPAEpiC	pulmonary alveolar:	n/a
35	chr20:23671108-23671158	HCM	heart:	n/a
36	chr20:23671108-23671158	AG10803	skin:	n/a
37	chr20:23671108-23671158	H1-hESC	embryonic stem cell:	embryo
38	chr20:23671108-23671158	AoSMC	blood vessel:	n/a
39	chr20:23671108-23671158	SAEC	small airway:	n/a
40	chr20:23671108-23671158	Hela-S3	cervix:	n/a
41	chr20:23671108-23671158	HEK293	kidney:	embryo
42	chr20:23671108-23671158	GM19239	blood:	n/a
43	chr20:23671108-23671158	MCF-7	breast:	n/a
44	chr20:23671108-23671158	HRPEpiC	eye:	n/a
45	chr20:23671108-23671158	AG04450	lung:	fetal
46	chr20:23671108-23671158	HAEpiC	amniotic membrane:	n/a
47	chr20:23671108-23671158	GM06990	blood:	n/a
48	chr20:23671108-23671158	MCF10A-Er-Src	breast:	n/a
49	chr20:23671108-23671158	HCF	heart:	n/a
50	chr20:23671108-23671158	NT2-D1	testis:	n/a

Variant related genes	Relation type
CST4	TF binding region
CST4	CpG island

Extended variants
information (count: 212 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs575121615	chr20:23671177-23671178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180752911	chr20:23671210-23671211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554937442	chr20:23671216-23671217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574707588	chr20:23671223-23671224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540388839	chr20:23671225-23671226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187228504	chr20:23671256-23671257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs137872150	chr20:23671285-23671286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13045496	chr20:23671290-23671291	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562932588	chr20:23671291-23671292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531583604	chr20:23671315-23671316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117690952	chr20:23671326-23671327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552441171	chr20:23671336-23671337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113609445	chr20:23671349-23671350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546768667	chr20:23671359-23671360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528745530	chr20:23671447-23671448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190855785	chr20:23671459-23671460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183361755	chr20:23671483-23671484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551964857	chr20:23671540-23671541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375758988	chr20:23671542-23671543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547449515	chr20:23671548-23671549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537410442	chr20:23671655-23671656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368735040	chr20:23671681-23671682	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs574747479	chr20:23671704-23671705	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs565656990	chr20:23671733-23671734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3761286	chr20:23671740-23671741	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs201150531	chr20:23671754-23671755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372408873	chr20:23671758-23671759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187659449	chr20:23671821-23671822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577010721	chr20:23671835-23671836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116717785	chr20:23671836-23671837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139542608	chr20:23671856-23671857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548297983	chr20:23671866-23671867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569609755	chr20:23671878-23671879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116571625	chr20:23671885-23671886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561168894	chr20:23671892-23671893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530062187	chr20:23671912-23671913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540523610	chr20:23671913-23671914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529830041	chr20:23671959-23671960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532319175	chr20:23671964-23671965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117877399	chr20:23671988-23671989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568820446	chr20:23672010-23672011	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs558442132	chr20:23672023-23672024	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs2226058	chr20:23672147-23672148	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs190573253	chr20:23672168-23672169	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs567711461	chr20:23672219-23672220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371587910	chr20:23672247-23672248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554020380	chr20:23672251-23672252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6138039	chr20:23672268-23672269	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs16985660	chr20:23672270-23672271	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs571748973	chr20:23672290-23672291	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23663800-23672400	Weak transcription	NHLF	lung
2	chr20:23667000-23672200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:23670000-23672000	Weak transcription	Lung	lung
4	chr20:23670200-23671200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:23670400-23671400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr20:23670800-23673600	Weak transcription	Spleen	Spleen
7	chr20:23671000-23672000	Weak transcription	HUVEC	blood vessel
8	chr20:23671000-23672800	Enhancers	Placenta	Placenta
9	chr20:23671200-23675000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr20:23671400-23674400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr20:23671400-23676000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr20:23671800-23672000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:23672000-23672200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr20:23672000-23672200	Bivalent Enhancer	HepG2	liver
15	chr20:23672000-23672400	Enhancers	Adipose Nuclei	Adipose
16	chr20:23672000-23673600	Enhancers	Lung	lung
17	chr20:23672000-23674400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr20:23672000-23674600	Enhancers	NHDF-Ad	bronchial
19	chr20:23672000-23674800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr20:23672000-23675800	Enhancers	HUVEC	blood vessel
21	chr20:23672200-23675800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:23672400-23672600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr20:23672400-23672600	Enhancers	Left Ventricle	heart
24	chr20:23672400-23672600	Enhancers	NH-A	brain
25	chr20:23672400-23673000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr20:23672400-23673400	Weak transcription	Adipose Nuclei	Adipose
27	chr20:23672400-23673400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr20:23672400-23674400	Enhancers	NHLF	lung
29	chr20:23672400-23674400	Enhancers	Osteobl	bone
30	chr20:23672600-23673200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr20:23672600-23673200	Weak transcription	Left Ventricle	heart
32	chr20:23672600-23673600	Weak transcription	NH-A	brain
33	chr20:23672600-23675000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr20:23672800-23674200	Weak transcription	Placenta	Placenta
35	chr20:23673000-23673400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr20:23673200-23674200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr20:23673200-23674400	Enhancers	Right Atrium	heart
38	chr20:23673200-23675000	Enhancers	Left Ventricle	heart
39	chr20:23673200-23676400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr20:23673400-23673600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr20:23673400-23673800	Enhancers	Right Ventricle	heart
42	chr20:23673400-23674200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr20:23673400-23674400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr20:23673400-23674400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr20:23673400-23674400	Enhancers	Adipose Nuclei	Adipose
46	chr20:23673400-23674400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr20:23673400-23675800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr20:23673400-23676000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr20:23673600-23674200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr20:23673600-23674400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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