Variant report

Variant	esv10664
Chromosome Location	chr20:25767042-25849064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:929)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:929 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:25848512-25848702	K562	blood:	n/a	n/a
2	ATF3	chr20:25843689-25844092	HepG2	liver:	n/a	n/a
3	BACH1	chr20:25848341-25848706	K562	blood:	n/a	n/a
4	BATF	chr20:25825481-25825754	GM12878	blood:	n/a	n/a
5	BCL11A	chr20:25846720-25846953	GM12878	blood:	n/a	n/a
6	BCL11A	chr20:25806118-25806338	GM12878	blood:	n/a	n/a
7	BCL11A	chr20:25846694-25846979	GM12878	blood:	n/a	n/a
8	BCL11A	chr20:25775154-25775349	GM12878	blood:	n/a	n/a
9	BCL11A	chr20:25843000-25843149	GM12878	blood:	n/a	n/a
10	BHLHE40	chr20:25844497-25844502	K562	blood:	n/a	n/a
11	BHLHE40	chr20:25840427-25840668	K562	blood:	n/a	n/a
12	BHLHE40	chr20:25834600-25834731	K562	blood:	n/a	n/a
13	BHLHE40	chr20:25848340-25848714	K562	blood:	n/a	n/a
14	BHLHE40	chr20:25838692-25838875	K562	blood:	n/a	n/a
15	BHLHE40	chr20:25843608-25844126	K562	blood:	n/a	n/a
16	BRCA1	chr20:25848499-25848704	HepG2	liver:	n/a	n/a
17	BRCA1	chr20:25848519-25848534	GM12878	blood:	n/a	n/a
18	BRCA1	chr20:25834562-25834610	HepG2	liver:	n/a	n/a
19	CBX3	chr20:25843839-25844188	K562	blood:	n/a	n/a
20	CBX3	chr20:25834554-25834916	K562	blood:	n/a	n/a
21	CCNT2	chr20:25843881-25844128	K562	blood:	n/a	n/a
22	CEBPB	chr20:25775210-25775358	K562	blood:	n/a	n/a
23	CEBPB	chr20:25848333-25848714	K562	blood:	n/a	n/a
24	CEBPB	chr20:25844508-25844516	HepG2	liver:	n/a	n/a
25	CEBPB	chr20:25843063-25843150	K562	blood:	n/a	n/a
26	CEBPB	chr20:25844039-25844135	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr20:25846248-25846410	HepG2	liver:	n/a	n/a
28	CEBPB	chr20:25838694-25838720	K562	blood:	n/a	n/a
29	CEBPB	chr20:25775261-25775345	K562	blood:	n/a	n/a
30	CEBPB	chr20:25843000-25843241	K562	blood:	n/a	n/a
31	CEBPB	chr20:25841958-25842158	K562	blood:	n/a	n/a
32	CEBPB	chr20:25843604-25843807	K562	blood:	n/a	n/a
33	CEBPB	chr20:25848498-25848709	HepG2	liver:	n/a	n/a
34	CEBPD	chr20:25834502-25834848	HepG2	liver:	n/a	n/a
35	CHD2	chr20:25848510-25848542	GM12878	blood:	n/a	n/a
36	CHD2	chr20:25834423-25834625	HepG2	liver:	n/a	n/a
37	CHD2	chr20:25834413-25834711	K562	blood:	n/a	n/a
38	CHD2	chr20:25848346-25848713	K562	blood:	n/a	n/a
39	CREB1	chr20:25842055-25842489	A549	lung:	n/a	n/a
40	CTBP2	chr20:25840333-25840793	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr20:25794305-25794358	Medullo	brain:	n/a	n/a
42	CTCF	chr20:25842205-25842506	HepG2	liver:	n/a	n/a
43	CTCF	chr20:25796859-25796949	GM10248	blood:	n/a	n/a
44	CTCF	chr20:25843993-25844092	GM13976	blood:	n/a	n/a
45	CTCF	chr20:25842305-25842449	MCF-7	breast:	n/a	n/a
46	CTCF	chr20:25842443-25842447	GM13976	blood:	n/a	n/a
47	CTCF	chr20:25843963-25844114	GM10248	blood:	n/a	n/a
48	CTCF	chr20:25842299-25842462	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr20:25842179-25842702	K562	blood:	n/a	n/a
50	CTCF	chr20:25843933-25844126	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:25846519-25846569	IMR90	lung:	fetal
2	chr20:25848886-25848936	AG04450	lung:	fetal
3	chr20:25848886-25848936	Hepatocyte	liver:	n/a
4	chr20:25848969-25849019	HPAEpiC	pulmonary alveolar:	n/a
5	chr20:25848969-25849019	A549	lung:	n/a
6	chr20:25846519-25846569	AG09319	gingival:	n/a
7	chr20:25848886-25848936	HCF	heart:	n/a
8	chr20:25848969-25849019	MCF10A-Er-Src	breast:	n/a
9	chr20:25834845-25834895	AG04449	skin:	fetal
10	chr20:25834845-25834895	K562	blood:	n/a
11	chr20:25834845-25834895	PANC-1	pancreas:	n/a
12	chr20:25848969-25849019	SAEC	small airway:	n/a
13	chr20:25834845-25834895	HCF	heart:	n/a
14	chr20:25846519-25846569	HUVEC	blood vessel:	n/a
15	chr20:25848969-25849019	Hela-S3	cervix:	n/a
16	chr20:25848886-25848936	IMR90	lung:	fetal
17	chr20:25848886-25848936	AG09319	gingival:	n/a
18	chr20:25834845-25834895	SK-N-SH_RA	brain:	n/a
19	chr20:25834845-25834895	AG10803	skin:	n/a
20	chr20:25834845-25834895	AG09309	skin:	n/a
21	chr20:25848886-25848936	A549	lung:	n/a
22	chr20:25846519-25846569	PrEC	prostate:	n/a
23	chr20:25848969-25849019	HEEpiC	esophagus:	n/a
24	chr20:25834845-25834895	HepG2	liver:	n/a
25	chr20:25846519-25846569	SAEC	small airway:	n/a
26	chr20:25834845-25834895	HNPCEpiC	eye:	n/a
27	chr20:25848969-25849019	HAEpiC	amniotic membrane:	n/a
28	chr20:25848969-25849019	HRPEpiC	eye:	n/a
29	chr20:25834845-25834895	BJ	skin:	n/a
30	chr20:25834845-25834895	U87	brain:	n/a
31	chr20:25848886-25848936	NHDF-neo	bronchial:	n/a
32	chr20:25848886-25848936	HRCEpiC	kidney:	n/a
33	chr20:25848886-25848936	NH-A	brain:	n/a
34	chr20:25848969-25849019	HUVEC	blood vessel:	n/a
35	chr20:25848886-25848936	BE2_C	brain:	n/a
36	chr20:25834845-25834895	HCT-116	colon:	n/a
37	chr20:25846519-25846569	Jurkat	blood:	n/a
38	chr20:25834845-25834895	A549	lung:	n/a
39	chr20:25848969-25849019	HMEC	breast:	n/a
40	chr20:25846519-25846569	HCPEpiC	choroid plexus:	n/a
41	chr20:25834845-25834895	SKMC	muscle:	n/a
42	chr20:25846519-25846569	NB4	blood:	n/a
43	chr20:25834845-25834895	ECC-1	luminal epithelium:	n/a
44	chr20:25848886-25848936	GM12878	blood:	n/a
45	chr20:25834845-25834895	HIPEpiC	eye:	n/a
46	chr20:25848969-25849019	ovcar-3	ovarian:	n/a
47	chr20:25848886-25848936	SAEC	small airway:	n/a
48	chr20:25848886-25848936	AoSMC	blood vessel:	n/a
49	chr20:25848969-25849019	GM19239	blood:	n/a
50	chr20:25846519-25846569	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25604447..25606097-chr20:25837225..25840203,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182A-9	chr20:25792905-25793903	NONHSAT079191
2	lnc-FAM182A-9	chr20:25795622-25796315	NONHSAT079191
3	lnc-FAM182B-8	chr20:25781456-25781927	NONHSAT079187
4	lnc-ZNF337-3	chr20:25816621-25816715	NONHSAT079192
5	lnc-FAM182B-8	chr20:25767381-25767624	NONHSAT079187
6	lnc-ZNF337-3	chr20:25817342-25817468	NONHSAT079192

No data

Variant related genes	Relation type
FAM182B	TF binding region
ENSG00000250090	TF binding region
FAM182B	CpG island
ENSG00000250090	CpG island
ENSG00000213742	chromatin interactions
ENSG00000170191	chromatin interactions

Extended variants
information (count: 2134 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:2134 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201213377	chr20:25767382-25767383	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs6037239	chr20:25767466-25767467	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs62212618	chr20:25767475-25767476	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs199966136	chr20:25792909-25792910	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs113837467	chr20:25793211-25793212	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs185111205	chr20:25793393-25793394	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs201286906	chr20:25795723-25795724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs202075464	chr20:25795752-25795753	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs6115308	chr20:25795774-25795775	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs28657382	chr20:25795961-25795962	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs187985259	chr20:25796027-25796028	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs6138680	chr20:25796031-25796032	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs192901198	chr20:25796094-25796095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs554027829	chr20:25817344-25817345	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs112805762	chr20:25817941-25817942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs6115316	chr20:25819122-25819123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs6115317	chr20:25819131-25819132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs112556828	chr20:25820178-25820179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs62214067	chr20:25820899-25820900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs2263729	chr20:25821018-25821019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs541853302	chr20:25821054-25821055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs188610973	chr20:25821228-25821229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs112622984	chr20:25821289-25821290	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs6132869	chr20:25824670-25824671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531741478	chr20:25824945-25824946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548753034	chr20:25825098-25825099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565674984	chr20:25825100-25825101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558801040	chr20:25825642-25825643	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs181381368	chr20:25825723-25825724	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs551472598	chr20:25825786-25825787	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs570681159	chr20:25825807-25825808	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs539669305	chr20:25825821-25825822	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs201659883	chr20:25825824-25825825	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs4281971	chr20:25825832-25825833	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs370911497	chr20:25825846-25825847	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs556422715	chr20:25825852-25825853	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs67565682	chr20:25825876-25825877	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs149487518	chr20:25825893-25825894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs369524753	chr20:25825896-25825897	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs139511645	chr20:25825918-25825919	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs555427285	chr20:25825919-25825920	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs77068631	chr20:25825920-25825921	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs572413891	chr20:25825923-25825924	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs541132002	chr20:25825926-25825927	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78544361	chr20:25825936-25825937	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs182364145	chr20:25825949-25825950	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs564633770	chr20:25825953-25825954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551490306	chr20:25825976-25825977	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs577896607	chr20:25825978-25825979	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs376060759	chr20:25825986-25825987	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
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
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1907 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25824600-25828800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr20:25825600-25825800	Active TSS	Stomach Smooth Muscle	stomach
3	chr20:25825800-25826000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr20:25825800-25826000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr20:25825800-25826000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:25825800-25826000	Enhancers	Aorta	Aorta
7	chr20:25825800-25826000	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr20:25825800-25826000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr20:25825800-25826000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr20:25825800-25826000	Enhancers	Spleen	Spleen
11	chr20:25825800-25826000	Enhancers	HSMMtube	muscle
12	chr20:25825800-25826200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr20:25825800-25826200	Enhancers	Brain Angular Gyrus	brain
14	chr20:25825800-25826200	Enhancers	Brain Anterior Caudate	brain
15	chr20:25825800-25826200	Enhancers	Brain Cingulate Gyrus	brain
16	chr20:25825800-25826200	Enhancers	Brain Hippocampus Middle	brain
17	chr20:25825800-25826200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr20:25825800-25826200	Enhancers	Brain Substantia Nigra	brain
19	chr20:25825800-25826200	Enhancers	Psoas Muscle	Psoas
20	chr20:25825800-25826200	Enhancers	Right Ventricle	heart
21	chr20:25825800-25826200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr20:25826000-25826200	Enhancers	Esophagus	oesophagus
23	chr20:25826000-25828800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr20:25826000-25829000	Weak transcription	Spleen	Spleen
25	chr20:25826000-25832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr20:25826000-25833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr20:25826000-25833600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr20:25826000-25833800	Weak transcription	Aorta	Aorta
29	chr20:25826000-25833800	Weak transcription	HSMMtube	muscle
30	chr20:25826200-25828800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr20:25826200-25829000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr20:25826200-25829000	Weak transcription	Brain Angular Gyrus	brain
33	chr20:25826200-25829000	Weak transcription	Brain Hippocampus Middle	brain
34	chr20:25826200-25829000	Weak transcription	Esophagus	oesophagus
35	chr20:25826200-25832600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr20:25826200-25833600	Weak transcription	Brain Anterior Caudate	brain
37	chr20:25826200-25833600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr20:25826200-25833600	Weak transcription	Brain Substantia Nigra	brain
39	chr20:25826200-25833600	Weak transcription	Right Ventricle	heart
40	chr20:25827800-25828800	Weak transcription	Dnd41	blood
41	chr20:25828000-25829600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr20:25828400-25833600	Weak transcription	Left Ventricle	heart
43	chr20:25828800-25829200	Strong transcription	Dnd41	blood
44	chr20:25828800-25829400	Strong transcription	Brain Cingulate Gyrus	brain
45	chr20:25828800-25829800	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr20:25828800-25829800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr20:25828800-25830600	ZNF genes & repeats	Fetal Stomach	stomach
48	chr20:25829000-25829400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr20:25829000-25829400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr20:25829000-25829400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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