Variant report

Variant	esv3400736
Chromosome Location	chr20:23014752-23018200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:671)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr20:23016022-23016424	H1-hESC	embryonic stem cell:	n/a	n/a
2	GABPA	chr20:23015856-23016314	H1-hESC	embryonic stem cell:	n/a	n/a
3	KAP1	chr20:23017703-23018158	U2OS	brain:	n/a	n/a
4	KAP1	chr20:23017670-23018142	HEK293	kidney:	n/a	n/a
5	MAX	chr20:23016075-23016689	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr20:23016532-23016546	MCF-7	breast:	n/a	n/a
7	POLR2A	chr20:23016559-23016568	MCF-7	breast:	n/a	n/a
8	POLR2A	chr20:23016521-23016528	MCF-7	breast:	n/a	n/a
9	POLR2A	chr20:23016439-23016497	MCF-7	breast:	n/a	n/a
10	RAD21	chr20:23015821-23016230	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF7L2	chr20:23017473-23018450	HEK293	kidney:	n/a	chr20:23018031-23018040 chr20:23018032-23018041 chr20:23018032-23018042 chr20:23018028-23018044 chr20:23018028-23018044
12	ZNF263	chr20:23017379-23018138	HEK293-T-REx	kidney:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23016753-23016803	HRCEpiC	kidney:	n/a
2	chr20:23015899-23015949	NHBE	bronchial:	n/a
3	chr20:23016753-23016803	Hepatocyte	liver:	n/a
4	chr20:23017312-23017362	SAEC	small airway:	n/a
5	chr20:23015624-23015674	IMR90	lung:	fetal
6	chr20:23016315-23016365	HEK293	kidney:	embryo
7	chr20:23015908-23015958	HMEC	breast:	n/a
8	chr20:23015908-23015958	U87	brain:	n/a
9	chr20:23015932-23015982	BE2_C	brain:	n/a
10	chr20:23015936-23015986	ProgFib	skin:	n/a
11	chr20:23015624-23015674	AG04449	skin:	fetal
12	chr20:23015091-23015141	RPTEC	kidney:	n/a
13	chr20:23015624-23015674	AG10803	skin:	n/a
14	chr20:23016315-23016365	HCT-116	colon:	n/a
15	chr20:23016315-23016365	HepG2	liver:	n/a
16	chr20:23016315-23016365	GM12891	blood:	n/a
17	chr20:23016753-23016803	AG09309	skin:	n/a
18	chr20:23016315-23016365	HPAEpiC	pulmonary alveolar:	n/a
19	chr20:23018108-23018158	ProgFib	skin:	n/a
20	chr20:23015908-23015958	AG09309	skin:	n/a
21	chr20:23018108-23018158	HepG2	liver:	n/a
22	chr20:23015906-23015956	SAEC	small airway:	n/a
23	chr20:23015899-23015949	BE2_C	brain:	n/a
24	chr20:23015091-23015141	PFSK-1	brain:	n/a
25	chr20:23016315-23016365	HAEpiC	amniotic membrane:	n/a
26	chr20:23015932-23015982	HNPCEpiC	eye:	n/a
27	chr20:23015624-23015674	GM12878	blood:	n/a
28	chr20:23015936-23015986	K562	blood:	n/a
29	chr20:23016753-23016803	GM06990	blood:	n/a
30	chr20:23015936-23015986	BE2_C	brain:	n/a
31	chr20:23017312-23017362	HAEpiC	amniotic membrane:	n/a
32	chr20:23015932-23015982	HEK293	kidney:	embryo
33	chr20:23016753-23016803	GM19239	blood:	n/a
34	chr20:23015624-23015674	GM19239	blood:	n/a
35	chr20:23015906-23015956	HAEpiC	amniotic membrane:	n/a
36	chr20:23018108-23018158	RPTEC	kidney:	n/a
37	chr20:23015906-23015956	A549	lung:	n/a
38	chr20:23015932-23015982	NT2-D1	testis:	n/a
39	chr20:23015936-23015986	GM12878	blood:	n/a
40	chr20:23015908-23015958	HEK293	kidney:	embryo
41	chr20:23017312-23017362	PANC-1	pancreas:	n/a
42	chr20:23015936-23015986	T-47D	breast:	n/a
43	chr20:23015932-23015982	HMEC	breast:	n/a
44	chr20:23015908-23015958	SK-N-SH_RA	brain:	n/a
45	chr20:23015624-23015674	SK-N-SH_RA	brain:	n/a
46	chr20:23015899-23015949	SAEC	small airway:	n/a
47	chr20:23016315-23016365	HRPEpiC	eye:	n/a
48	chr20:23015624-23015674	HRE	kidney:	n/a
49	chr20:23015899-23015949	T-47D	breast:	n/a
50	chr20:23015899-23015949	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23017212..23020123-chr20:23028174..23031939,4	MCF-7	breast:
2	chr20:23013696..23015304-chr20:23018702..23020463,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234646	TF binding region
SSTR4	TF binding region
ENSG00000230492	TF binding region
ENSG00000234646	CpG island
SSTR4	CpG island
ENSG00000230492	CpG island
ENSG00000178726	chromatin interactions
ENSG00000234646	chromatin interactions

Extended variants
information (count: 218 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:218 , 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	rs139901899	chr20:23014759-23014760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs12625170	chr20:23014765-23014766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563488745	chr20:23014767-23014768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532009150	chr20:23014775-23014776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143401721	chr20:23014776-23014777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368090779	chr20:23014781-23014782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547993485	chr20:23014820-23014821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567870003	chr20:23014832-23014833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34449238	chr20:23014877-23014878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs35268749	chr20:23014907-23014908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375036129	chr20:23014917-23014918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35301165	chr20:23014927-23014928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547338646	chr20:23014940-23014941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377281419	chr20:23014951-23014952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539087915	chr20:23014955-23014956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs35829406	chr20:23014960-23014961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556118350	chr20:23014989-23014990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576245342	chr20:23015036-23015037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2268199	chr20:23015092-23015093	Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs56123065	chr20:23015104-23015105	Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs34161820	chr20:23015105-23015106	Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs572648815	chr20:23015124-23015125	Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs541599013	chr20:23015144-23015145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs113709724	chr20:23015162-23015163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs148484508	chr20:23015194-23015195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs578193902	chr20:23015237-23015238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543492596	chr20:23015266-23015267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370253575	chr20:23015270-23015271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560171094	chr20:23015286-23015287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529353398	chr20:23015287-23015288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549040187	chr20:23015296-23015297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561563549	chr20:23015306-23015307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527526078	chr20:23015324-23015325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547546070	chr20:23015427-23015428	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570700630	chr20:23015439-23015440	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142788683	chr20:23015505-23015506	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549812211	chr20:23015522-23015523	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375632483	chr20:23015533-23015534	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6082983	chr20:23015603-23015604	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs535564383	chr20:23015618-23015619	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs555467463	chr20:23015624-23015625	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	CpG island	3 gene(s)	Overlapped CNVs	n/a
42	rs34621807	chr20:23015633-23015634	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	CpG island	3 gene(s)	Overlapped CNVs	n/a
43	rs368026638	chr20:23015749-23015750	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543901731	chr20:23015756-23015757	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs6113904	chr20:23015790-23015791	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs572082949	chr20:23015803-23015804	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs558321287	chr20:23015818-23015819	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs578195844	chr20:23015819-23015820	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs35874959	chr20:23015820-23015821	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs556960205	chr20:23015837-23015838	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region	3 gene(s)	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23001000-23015800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:23012000-23014800	Enhancers	Right Ventricle	heart
3	chr20:23013200-23016200	Weak transcription	Lung	lung
4	chr20:23013200-23017400	Enhancers	Fetal Heart	heart
5	chr20:23014000-23015600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr20:23014000-23015800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr20:23014600-23016200	Weak transcription	Dnd41	blood
8	chr20:23015200-23015800	Weak transcription	Spleen	Spleen
9	chr20:23015400-23015800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr20:23015400-23016000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr20:23015400-23016200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr20:23015400-23016600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr20:23015600-23015800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:23015600-23015800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr20:23015600-23016000	Enhancers	Primary hematopoietic stem cells	blood
16	chr20:23015600-23016000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr20:23015600-23016000	Active TSS	Right Ventricle	heart
18	chr20:23015600-23016400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr20:23015600-23016400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr20:23015600-23016400	Bivalent Enhancer	Fetal Brain Male	brain
21	chr20:23015600-23016600	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr20:23015800-23016000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr20:23015800-23016000	Active TSS	Ovary	ovary
24	chr20:23015800-23016000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
25	chr20:23015800-23016200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr20:23015800-23016200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:23015800-23016200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr20:23015800-23016200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr20:23015800-23016200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr20:23015800-23016200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr20:23015800-23016200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr20:23015800-23016200	Bivalent/Poised TSS	Psoas Muscle	Psoas
33	chr20:23015800-23016200	Active TSS	Right Atrium	heart
34	chr20:23015800-23016400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr20:23015800-23016400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr20:23015800-23016400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr20:23015800-23016400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
38	chr20:23015800-23016400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
39	chr20:23015800-23016400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
40	chr20:23015800-23016400	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr20:23015800-23016400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr20:23015800-23016600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr20:23015800-23016600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr20:23015800-23017600	ZNF genes & repeats	Spleen	Spleen
45	chr20:23016000-23016200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr20:23016000-23016200	Active TSS	Aorta	Aorta
47	chr20:23016000-23016200	Enhancers	Colonic Mucosa	Colon
48	chr20:23016000-23016200	Active TSS	Gastric	stomach
49	chr20:23016000-23016200	Flanking Bivalent TSS/Enh	Ovary	ovary
50	chr20:23016000-23016200	Flanking Active TSS	Right Ventricle	heart

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