Variant report

Variant	esv3486652
Chromosome Location	chr20:25678552-25682550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:25680595-25680824	K562	blood:	n/a	n/a
2	CEBPB	chr20:25680733-25680807	A549	lung:	n/a	n/a
3	CTCF	chr20:25680218-25680266	Kidney_OC	kidney:	n/a	n/a
4	FOS	chr20:25680617-25680952	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr20:25680665-25680937	MCF10A-Er-Src	breast:	n/a	n/a
6	KAP1	chr20:25680157-25681228	K562	blood:	n/a	n/a
7	MAFF	chr20:25680627-25680929	K562	blood:	n/a	chr20:25680794-25680812
8	MAFF	chr20:25680681-25680962	HepG2	liver:	n/a	chr20:25680794-25680812
9	MAFK	chr20:25680702-25680910	HepG2	liver:	n/a	n/a
10	MAFK	chr20:25680619-25680915	K562	blood:	n/a	n/a
11	MAFK	chr20:25680653-25680942	HepG2	liver:	n/a	n/a
12	MAX	chr20:25678611-25678858	NB4	blood:	n/a	chr20:25678699-25678709
13	POLR2A	chr20:25680183-25680232	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr20:25680783-25680828	MCF10A-Er-Src	breast:	n/a	n/a
15	SETDB1	chr20:25680473-25681165	U2OS	brain:	n/a	n/a
16	SREBP1	chr20:25676527-25679236	GM12878	blood:	n/a	n/a
17	STAT3	chr20:25678658-25678806	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:25681052-25681102	HL-60	blood:	n/a
2	chr20:25681052-25681102	HCF	heart:	n/a
3	chr20:25681052-25681102	AG09309	skin:	n/a
4	chr20:25681052-25681102	AG10803	skin:	n/a
5	chr20:25681052-25681102	HEK293	kidney:	embryo
6	chr20:25681052-25681102	HCPEpiC	choroid plexus:	n/a
7	chr20:25681052-25681102	MCF-7	breast:	n/a
8	chr20:25681052-25681102	SK-N-SH	brain:	n/a
9	chr20:25681052-25681102	CMK	blood:	n/a
10	chr20:25681052-25681102	HRPEpiC	eye:	n/a
11	chr20:25681052-25681102	NT2-D1	testis:	n/a
12	chr20:25681052-25681102	Jurkat	blood:	n/a
13	chr20:25681052-25681102	Hepatocyte	liver:	n/a
14	chr20:25681052-25681102	GM06990	blood:	n/a
15	chr20:25681052-25681102	HCM	heart:	n/a
16	chr20:25681052-25681102	HMEC	breast:	n/a
17	chr20:25681052-25681102	IMR90	lung:	fetal
18	chr20:25681052-25681102	ECC-1	luminal epithelium:	n/a
19	chr20:25681052-25681102	K562	blood:	n/a
20	chr20:25681052-25681102	PFSK-1	brain:	n/a
21	chr20:25681052-25681102	H1-hESC	embryonic stem cell:	embryo
22	chr20:25681052-25681102	T-47D	breast:	n/a
23	chr20:25681052-25681102	NH-A	brain:	n/a
24	chr20:25681052-25681102	AG04450	lung:	fetal
25	chr20:25681052-25681102	GM12891	blood:	n/a
26	chr20:25681052-25681102	GM12892	blood:	n/a
27	chr20:25681052-25681102	HNPCEpiC	eye:	n/a
28	chr20:25681052-25681102	BE2_C	brain:	n/a
29	chr20:25681052-25681102	SK-N-SH_RA	brain:	n/a
30	chr20:25681052-25681102	HRCEpiC	kidney:	n/a
31	chr20:25681052-25681102	MCF10A-Er-Src	breast:	n/a
32	chr20:25681052-25681102	GM12878	blood:	n/a
33	chr20:25681052-25681102	SKMC	muscle:	n/a
34	chr20:25681052-25681102	NHBE	bronchial:	n/a
35	chr20:25681052-25681102	HepG2	liver:	n/a
36	chr20:25681052-25681102	HIPEpiC	eye:	n/a
37	chr20:25681052-25681102	Hela-S3	cervix:	n/a
38	chr20:25681052-25681102	PANC-1	pancreas:	n/a
39	chr20:25681052-25681102	Caco-2	colon:	n/a
40	chr20:25681052-25681102	HAEpiC	amniotic membrane:	n/a
41	chr20:25681052-25681102	BJ	skin:	n/a
42	chr20:25681052-25681102	AoSMC	blood vessel:	n/a
43	chr20:25681052-25681102	RPTEC	kidney:	n/a
44	chr20:25681052-25681102	NHDF-neo	bronchial:	n/a
45	chr20:25681052-25681102	ovcar-3	ovarian:	n/a
46	chr20:25681052-25681102	SK-N-MC	brain:	n/a
47	chr20:25681052-25681102	SAEC	small airway:	n/a
48	chr20:25681052-25681102	HPAEpiC	pulmonary alveolar:	n/a
49	chr20:25681052-25681102	AG04449	skin:	fetal
50	chr20:25681052-25681102	HUVEC	blood vessel:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:25602422..25607796-chr20:25675112..25679388,9	K562	blood:
2	chr20:25604068..25607059-chr20:25675582..25678596,4	MCF-7	breast:
3	chr20:25603699..25606216-chr20:25676779..25679090,3	MCF-7	breast:
4	chr20:25602965..25606226-chr20:25676160..25678613,3	K562	blood:
5	chr20:25477099..25478848-chr20:25676437..25678716,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GINS1-6	chr20:25681199-25681397	NONHSAT079179
2	lnc-GINS1-6	chr20:25679854-25679974	NONHSAT079179

No data

Variant related genes	Relation type
ZNF337	TF binding region
ZNF337	CpG island
ENSG00000170191	chromatin interactions
ENSG00000213742	chromatin interactions
ENSG00000101004	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114209836	chr20:25678586-25678587	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs543325239	chr20:25678641-25678642	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs565106088	chr20:25678728-25678729	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs6050796	chr20:25678737-25678738	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs73343255	chr20:25678820-25678821	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs538842942	chr20:25678840-25678841	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs77317588	chr20:25678867-25678868	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs575772102	chr20:25678905-25678906	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs544459187	chr20:25678922-25678923	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs189934957	chr20:25678929-25678930	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs574484575	chr20:25678963-25678964	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs112603574	chr20:25678986-25678987	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs373331171	chr20:25679037-25679038	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs181585726	chr20:25679043-25679044	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs552410130	chr20:25679052-25679053	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs562653493	chr20:25679139-25679140	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs13043042	chr20:25679202-25679203	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs145846538	chr20:25679209-25679210	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs186307837	chr20:25679222-25679223	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs548492686	chr20:25679231-25679232	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs568411075	chr20:25679275-25679276	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs548605228	chr20:25679292-25679293	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533749612	chr20:25679306-25679307	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs144685936	chr20:25679340-25679341	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs147936216	chr20:25679349-25679350	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs113459695	chr20:25679369-25679370	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188511054	chr20:25679374-25679375	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs141729893	chr20:25679397-25679398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180885044	chr20:25679415-25679416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538092954	chr20:25679449-25679450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531245720	chr20:25679490-25679491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114814498	chr20:25679527-25679528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185199812	chr20:25679547-25679548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150071856	chr20:25679550-25679551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560507624	chr20:25679572-25679573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191090329	chr20:25679653-25679654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546238422	chr20:25679655-25679656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530058947	chr20:25679726-25679727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61052177	chr20:25679762-25679763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529667870	chr20:25679812-25679813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531529887	chr20:25679854-25679855	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs549561447	chr20:25679861-25679862	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs114952960	chr20:25679889-25679890	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs369386824	chr20:25679941-25679942	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs567145753	chr20:25679950-25679951	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs183806721	chr20:25679953-25679954	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs373393627	chr20:25679996-25679997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527549843	chr20:25679998-25679999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187079876	chr20:25679999-25680000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547735851	chr20:25680035-25680036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	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
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
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25676000-25678800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:25676200-25678600	Active TSS	A549	lung
3	chr20:25676600-25678600	Active TSS	HMEC	breast
4	chr20:25676600-25678800	Active TSS	Brain Germinal Matrix	brain
5	chr20:25676600-25679200	Active TSS	GM12878-XiMat	blood
6	chr20:25677800-25678600	Weak transcription	Spleen	Spleen
7	chr20:25677800-25678800	Active TSS	Fetal Brain Male	brain
8	chr20:25677800-25701000	Weak transcription	Pancreas	Pancrea
9	chr20:25678000-25678600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr20:25678000-25678600	Weak transcription	Brain Substantia Nigra	brain
11	chr20:25678000-25678600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr20:25678000-25678600	Weak transcription	Stomach Mucosa	stomach
13	chr20:25678000-25678800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr20:25678000-25678800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr20:25678000-25678800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr20:25678000-25678800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:25678000-25678800	Enhancers	Brain Angular Gyrus	brain
18	chr20:25678000-25679000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr20:25678000-25679000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr20:25678000-25679000	Flanking Active TSS	Dnd41	blood
21	chr20:25678000-25679600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr20:25678000-25679600	Enhancers	Liver	Liver
23	chr20:25678000-25681600	Weak transcription	Brain Hippocampus Middle	brain
24	chr20:25678000-25687600	Weak transcription	Esophagus	oesophagus
25	chr20:25678200-25678600	Weak transcription	HSMMtube	muscle
26	chr20:25678400-25678600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:25678400-25678600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr20:25678400-25678800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr20:25678400-25678800	Enhancers	Right Atrium	heart
30	chr20:25678400-25678800	Enhancers	NHEK	skin
31	chr20:25678400-25679200	Enhancers	Fetal Brain Female	brain
32	chr20:25678400-25679200	Enhancers	HepG2	liver
33	chr20:25678600-25678800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr20:25678600-25678800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr20:25678600-25678800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr20:25678600-25678800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr20:25678600-25678800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr20:25678600-25678800	Enhancers	Fetal Kidney	kidney
39	chr20:25678600-25678800	Enhancers	Psoas Muscle	Psoas
40	chr20:25678600-25678800	Enhancers	Right Ventricle	heart
41	chr20:25678600-25678800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr20:25678600-25678800	Enhancers	Stomach Mucosa	stomach
43	chr20:25678600-25678800	Enhancers	Thymus	Thymus
44	chr20:25678600-25678800	Enhancers	Spleen	Spleen
45	chr20:25678600-25678800	Flanking Active TSS	A549	lung
46	chr20:25678600-25678800	Enhancers	Hela-S3	cervix
47	chr20:25678600-25678800	Flanking Active TSS	HMEC	breast
48	chr20:25678600-25678800	Enhancers	HSMMtube	muscle
49	chr20:25678800-25679000	Enhancers	Brain Substantia Nigra	brain
50	chr20:25678800-25679000	Enhancers	A549	lung

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