Variant report

Variant	esv12597
Chromosome Location	chr20:26048097-26122308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:242)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:242 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr20:26104768-26105049	GM12878	blood:	n/a	n/a
2	BATF	chr20:26082886-26083114	GM12878	blood:	n/a	n/a
3	BATF	chr20:26086012-26086209	GM12878	blood:	n/a	n/a
4	BCL11A	chr20:26120133-26120429	GM12878	blood:	n/a	n/a
5	CEBPB	chr20:26121278-26121296	K562	blood:	n/a	chr20:26121283-26121294
6	CEBPB	chr20:26121146-26121440	HepG2	liver:	n/a	chr20:26121283-26121294 chr20:26121323-26121334 chr20:26121325-26121336
7	CEBPB	chr20:26121204-26121403	IMR90	lung:	n/a	chr20:26121283-26121294 chr20:26121323-26121334 chr20:26121325-26121336
8	CEBPB	chr20:26121211-26121451	A549	lung:	n/a	chr20:26121283-26121294 chr20:26121323-26121334 chr20:26121325-26121336
9	CEBPB	chr20:26075797-26075840	HepG2	liver:	n/a	chr20:26075803-26075816 chr20:26075804-26075815
10	CTCF	chr20:26054800-26054950	Caco-2	colon:	n/a	n/a
11	CTCF	chr20:26121880-26121912	GM20000	blood:	n/a	n/a
12	CTCF	chr20:26048294-26048345	GM13976	blood:	n/a	n/a
13	CTCF	chr20:26054740-26054890	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr20:26093095-26093155	MCF-7	breast:	n/a	n/a
15	CTCF	chr20:26079620-26079770	GM12869	blood:	n/a	n/a
16	CTCF	chr20:26084300-26084450	MCF-7	breast:	n/a	n/a
17	CTCF	chr20:26094517-26094580	MCF-7	breast:	n/a	n/a
18	CTCF	chr20:26120257-26120286	GM13976	blood:	n/a	n/a
19	EBF1	chr20:26068782-26069003	GM12878	blood:	n/a	n/a
20	EBF1	chr20:26068803-26069015	GM12878	blood:	n/a	n/a
21	EP300	chr20:26064263-26064509	GM12878	blood:	n/a	n/a
22	EP300	chr20:26080112-26080441	GM12878	blood:	n/a	n/a
23	EP300	chr20:26066269-26066547	GM12878	blood:	n/a	n/a
24	EP300	chr20:26116330-26116506	GM12878	blood:	n/a	n/a
25	EP300	chr20:26051583-26051901	GM12878	blood:	n/a	n/a
26	FOSL2	chr20:26053268-26053980	HepG2	liver:	n/a	chr20:26053272-26053279
27	FOSL2	chr20:26050765-26051452	HepG2	liver:	n/a	n/a
28	FOSL2	chr20:26066104-26066564	HepG2	liver:	n/a	n/a
29	FOSL2	chr20:26059035-26059280	HepG2	liver:	n/a	chr20:26059264-26059276
30	FOSL2	chr20:26067460-26067898	HepG2	liver:	n/a	n/a
31	FOSL2	chr20:26062023-26062296	HepG2	liver:	n/a	chr20:26062181-26062192
32	FOSL2	chr20:26060179-26060522	HepG2	liver:	n/a	n/a
33	FOSL2	chr20:26048965-26049658	HepG2	liver:	n/a	n/a
34	FOSL2	chr20:26066838-26067133	HepG2	liver:	n/a	n/a
35	FOSL2	chr20:26070394-26070634	HepG2	liver:	n/a	chr20:26070610-26070620 chr20:26070611-26070619
36	FOSL2	chr20:26051037-26051493	HepG2	liver:	n/a	n/a
37	FOSL2	chr20:26079696-26080455	HepG2	liver:	n/a	n/a
38	FOSL2	chr20:26064776-26065022	HepG2	liver:	n/a	n/a
39	FOSL2	chr20:26065344-26065905	HepG2	liver:	n/a	n/a
40	FOSL2	chr20:26048294-26048686	HepG2	liver:	n/a	n/a
41	FOSL2	chr20:26072242-26072489	HepG2	liver:	n/a	n/a
42	FOSL2	chr20:26064243-26064541	HepG2	liver:	n/a	n/a
43	FOSL2	chr20:26049701-26050038	HepG2	liver:	n/a	n/a
44	FOSL2	chr20:26078641-26078874	HepG2	liver:	n/a	n/a
45	FOSL2	chr20:26069889-26070156	HepG2	liver:	n/a	n/a
46	FOSL2	chr20:26053694-26053912	HepG2	liver:	n/a	n/a
47	FOSL2	chr20:26070749-26070966	HepG2	liver:	n/a	n/a
48	FOSL2	chr20:26068719-26068969	HepG2	liver:	n/a	n/a
49	FOSL2	chr20:26066021-26066761	HepG2	liver:	n/a	n/a
50	FOSL2	chr20:26051850-26052284	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:26062310-26062360	GM12878	blood:	n/a
2	chr20:26062310-26062360	HEK293	kidney:	embryo
3	chr20:26062310-26062360	AoSMC	blood vessel:	n/a
4	chr20:26062310-26062360	MCF-7	breast:	n/a
5	chr20:26062310-26062360	SK-N-MC	brain:	n/a
6	chr20:26062310-26062360	HUVEC	blood vessel:	n/a
7	chr20:26062310-26062360	ovcar-3	ovarian:	n/a
8	chr20:26062310-26062360	IMR90	lung:	fetal
9	chr20:26062310-26062360	HAEpiC	amniotic membrane:	n/a
10	chr20:26062310-26062360	SK-N-SH	brain:	n/a
11	chr20:26062310-26062360	HRCEpiC	kidney:	n/a
12	chr20:26062310-26062360	Hepatocyte	liver:	n/a
13	chr20:26062310-26062360	MCF10A-Er-Src	breast:	n/a
14	chr20:26062310-26062360	HL-60	blood:	n/a
15	chr20:26062310-26062360	AG04450	lung:	fetal
16	chr20:26062310-26062360	U87	brain:	n/a
17	chr20:26062310-26062360	RPTEC	kidney:	n/a
18	chr20:26062310-26062360	HCPEpiC	choroid plexus:	n/a
19	chr20:26062310-26062360	GM12892	blood:	n/a
20	chr20:26062310-26062360	NT2-D1	testis:	n/a
21	chr20:26062310-26062360	Jurkat	blood:	n/a
22	chr20:26062310-26062360	K562	blood:	n/a
23	chr20:26062310-26062360	HCT-116	colon:	n/a
24	chr20:26062310-26062360	PrEC	prostate:	n/a
25	chr20:26062310-26062360	SK-N-SH_RA	brain:	n/a
26	chr20:26062310-26062360	A549	lung:	n/a
27	chr20:26062310-26062360	BE2_C	brain:	n/a
28	chr20:26062310-26062360	HMEC	breast:	n/a
29	chr20:26062310-26062360	NH-A	brain:	n/a
30	chr20:26062310-26062360	GM12891	blood:	n/a
31	chr20:26062310-26062360	NB4	blood:	n/a
32	chr20:26062310-26062360	AG10803	skin:	n/a
33	chr20:26062310-26062360	LNCaP	prostate:	n/a
34	chr20:26062310-26062360	AG09309	skin:	n/a
35	chr20:26062310-26062360	ECC-1	luminal epithelium:	n/a
36	chr20:26062310-26062360	HPAEpiC	pulmonary alveolar:	n/a
37	chr20:26062310-26062360	HRE	kidney:	n/a
38	chr20:26062310-26062360	HEEpiC	esophagus:	n/a
39	chr20:26062310-26062360	Caco-2	colon:	n/a
40	chr20:26062310-26062360	GM06990	blood:	n/a
41	chr20:26062310-26062360	ProgFib	skin:	n/a
42	chr20:26062310-26062360	PFSK-1	brain:	n/a
43	chr20:26062310-26062360	NHBE	bronchial:	n/a
44	chr20:26062310-26062360	T-47D	breast:	n/a
45	chr20:26062310-26062360	HCF	heart:	n/a
46	chr20:26062310-26062360	SAEC	small airway:	n/a
47	chr20:26062310-26062360	CMK	blood:	n/a
48	chr20:26062310-26062360	H1-hESC	embryonic stem cell:	embryo
49	chr20:26062310-26062360	HepG2	liver:	n/a
50	chr20:26062310-26062360	PANC-1	pancreas:	n/a

No data

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182A-4	chr20:26056970-26057076	ENSG00000125804.9
2	lnc-FAM182A-4	chr20:26049573-26049840	ENSG00000125804.9
3	lnc-FAM182A-4	chr20:26054406-26054448	ENSG00000125804.9
4	lnc-FAM182B-4	chr20:26114675-26114834	XLOC_013713
5	lnc-FAM182A-4	chr20:26049553-26049840	ENSG00000125804.9
6	lnc-FAM182A-4	chr20:26049675-26049840	ENSG00000125804.9
7	lnc-FAM182A-4	chr20:26054406-26054505	ENSG00000125804.9
8	lnc-FAM182A-4	chr20:26054406-26054495	ENSG00000125804.9
9	lnc-FAM182B-4	chr20:26113523-26113633	XLOC_013713
10	lnc-FAM182A-4	chr20:26073445-26073683	ENSG00000125804.9
11	lnc-FAM182A-4	chr20:26063530-26063584	ENSG00000125804.9
12	lnc-FAM182A-4	chr20:26049553-26049796	ENSG00000125804.9
13	lnc-FAM182A-4	chr20:26061824-26062026	ENSG00000125804.9
14	lnc-FAM182A-4	chr20:26049724-26049840	ENSG00000125804.9
15	lnc-FAM182A-5	chr20:26122024-26122582	NONHSAT079227
16	lnc-FAM182A-4	chr20:26072148-26072255	ENSG00000125804.9
17	lnc-FAM182A-4	chr20:26061824-26062026	ENSG00000125804.9
18	lnc-FAM182A-5	chr20:26119625-26119691	NONHSAT079227

No data

Variant related genes	Relation type
ENSG00000230440	TF binding region
FAM182A	TF binding region
NCOR1P1	TF binding region
ENSG00000230440	CpG island
FAM182A	CpG island
NCOR1P1	CpG island

Extended variants
information (count: 795 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368469111	chr20:26049048-26049049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs542909789	chr20:26054418-26054419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs111555265	chr20:26054422-26054423	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs113568451	chr20:26054459-26054460	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs367876612	chr20:26054484-26054485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs200395067	chr20:26054604-26054605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528104864	chr20:26054623-26054624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551430868	chr20:26054634-26054635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112493849	chr20:26054643-26054644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs112241679	chr20:26054652-26054653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs111598620	chr20:26054655-26054656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112584633	chr20:26054659-26054660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112896866	chr20:26054673-26054674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564852654	chr20:26054679-26054680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs530673080	chr20:26054696-26054697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201204504	chr20:26054697-26054698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74974087	chr20:26054708-26054709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113053402	chr20:26054710-26054711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200212460	chr20:26054712-26054713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs375025708	chr20:26054713-26054714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs570274508	chr20:26054730-26054731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112484477	chr20:26054733-26054734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs201740114	chr20:26054751-26054752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs372964878	chr20:26054753-26054754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs112275163	chr20:26054763-26054764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs111381916	chr20:26054776-26054777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs202123292	chr20:26054795-26054796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs112274107	chr20:26054796-26054797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs112516094	chr20:26054803-26054804	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs113979573	chr20:26054806-26054807	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs199565704	chr20:26054826-26054827	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs112523194	chr20:26054834-26054835	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs535629264	chr20:26054840-26054841	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs113265804	chr20:26054843-26054844	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs549664794	chr20:26054850-26054851	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs111818475	chr20:26054859-26054860	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs34603329	chr20:26054883-26054884	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs78493945	chr20:26054905-26054906	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs111143870	chr20:26054920-26054921	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs200005368	chr20:26054936-26054937	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534101635	chr20:26054943-26054944	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs535302165	chr20:26054949-26054950	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs111574025	chr20:26054990-26054991	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201304326	chr20:26054996-26054997	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs368221069	chr20:26056988-26056989	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs201586587	chr20:26056990-26056991	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs75728126	chr20:26056999-26057000	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs200517812	chr20:26057018-26057019	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs371169041	chr20:26057047-26057048	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs138061078	chr20:26057065-26057066	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26054600-26055000	ZNF genes & repeats	Brain Angular Gyrus	brain
2	chr20:26054600-26055000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
3	chr20:26054600-26055000	ZNF genes & repeats	Esophagus	oesophagus
4	chr20:26054600-26055000	ZNF genes & repeats	Fetal Brain Male	brain
5	chr20:26054600-26055000	ZNF genes & repeats	Fetal Kidney	kidney
6	chr20:26054600-26055000	ZNF genes & repeats	Fetal Lung	lung
7	chr20:26054600-26055000	ZNF genes & repeats	Pancreas	Pancrea
8	chr20:26054600-26055000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
9	chr20:26054800-26055000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr20:26054800-26055000	ZNF genes & repeats	Brain Hippocampus Middle	brain
11	chr20:26054800-26055000	Active TSS	Brain Substantia Nigra	brain
12	chr20:26054800-26055000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
13	chr20:26078800-26080200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr20:26079600-26079800	ZNF genes & repeats	Gastric	stomach
15	chr20:26100800-26101400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr20:26116000-26116400	Active TSS	K562	blood
17	chr20:26116000-26116800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr20:26116800-26125400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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