Variant report

Variant	esv3410916
Chromosome Location	chr20:26046352-26061850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:26054740-26054890	HPAF	blood vessel:	n/a	n/a
2	CTCF	chr20:26054800-26054950	Caco-2	colon:	n/a	n/a
3	CTCF	chr20:26048294-26048345	GM13976	blood:	n/a	n/a
4	EP300	chr20:26051583-26051901	GM12878	blood:	n/a	n/a
5	FOSL2	chr20:26059035-26059280	HepG2	liver:	n/a	chr20:26059264-26059276
6	FOSL2	chr20:26051529-26052134	HepG2	liver:	n/a	n/a
7	FOSL2	chr20:26053694-26053912	HepG2	liver:	n/a	n/a
8	FOSL2	chr20:26053268-26053980	HepG2	liver:	n/a	chr20:26053272-26053279
9	FOSL2	chr20:26051037-26051493	HepG2	liver:	n/a	n/a
10	FOSL2	chr20:26049701-26050038	HepG2	liver:	n/a	n/a
11	FOSL2	chr20:26060179-26060522	HepG2	liver:	n/a	n/a
12	FOSL2	chr20:26048294-26048686	HepG2	liver:	n/a	n/a
13	FOSL2	chr20:26051850-26052284	HepG2	liver:	n/a	n/a
14	FOSL2	chr20:26050765-26051452	HepG2	liver:	n/a	n/a
15	FOSL2	chr20:26053355-26053574	HepG2	liver:	n/a	n/a
16	FOSL2	chr20:26048965-26049658	HepG2	liver:	n/a	n/a
17	FOXA1	chr20:26051413-26051781	HepG2	liver:	n/a	n/a
18	JUND	chr20:26050949-26051451	HepG2	liver:	n/a	n/a
19	JUND	chr20:26051662-26051849	HepG2	liver:	n/a	n/a
20	JUND	chr20:26059165-26059280	HepG2	liver:	n/a	chr20:26059264-26059276
21	JUND	chr20:26053375-26053622	HepG2	liver:	n/a	n/a
22	JUND	chr20:26060125-26060315	HepG2	liver:	n/a	n/a
23	JUND	chr20:26054944-26055203	HepG2	liver:	n/a	n/a
24	PAX5	chr20:26050160-26050341	GM12878	blood:	n/a	n/a
25	PAX5	chr20:26054780-26055220	GM12878	blood:	n/a	n/a
26	PAX5	chr20:26058970-26059286	GM12878	blood:	n/a	chr20:26059267-26059276
27	PAX5	chr20:26055373-26055798	GM12878	blood:	n/a	n/a
28	PAX5	chr20:26053182-26053710	GM12878	blood:	n/a	chr20:26053534-26053543
29	PAX5	chr20:26050690-26051398	GM12878	blood:	n/a	n/a
30	PBX3	chr20:26051165-26051318	GM12878	blood:	n/a	n/a
31	POLR2A	chr20:26054864-26055040	Gliobla	brain:	n/a	n/a
32	POLR2A	chr20:26054977-26055340	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr20:26055425-26055621	A549	lung:	n/a	n/a
34	POU2F2	chr20:26051037-26051564	GM12878	blood:	n/a	chr20:26051515-26051524 chr20:26051516-26051523 chr20:26051515-26051525 chr20:26051515-26051525
35	POU2F2	chr20:26053303-26053655	GM12878	blood:	n/a	n/a
36	RXRA	chr20:26051291-26051683	HepG2	liver:	n/a	n/a
37	RXRA	chr20:26054786-26055313	HepG2	liver:	n/a	n/a
38	RXRA	chr20:26051316-26051519	HepG2	liver:	n/a	n/a
39	RXRA	chr20:26051689-26052141	HepG2	liver:	n/a	n/a
40	RXRA	chr20:26057120-26057474	HepG2	liver:	n/a	n/a
41	SIN3AK20	chr20:26060055-26060243	HepG2	liver:	n/a	n/a
42	SIN3AK20	chr20:26054608-26054719	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr20:26050980-26051079	HepG2	liver:	n/a	n/a
44	SIX5	chr20:26055000-26055215	K562	blood:	n/a	n/a
45	SIX5	chr20:26051112-26051310	K562	blood:	n/a	chr20:26051190-26051206
46	SP1	chr20:26055211-26055285	HepG2	liver:	n/a	n/a
47	SP1	chr20:26059916-26060397	HepG2	liver:	n/a	n/a
48	SP1	chr20:26056195-26056457	HepG2	liver:	n/a	n/a
49	SP1	chr20:26054868-26055149	HepG2	liver:	n/a	chr20:26055127-26055136
50	SP1	chr20:26051149-26051417	HepG2	liver:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182A-4	chr20:26047620-26047810	ENSG00000125804.9
2	lnc-FAM182A-4	chr20:26054406-26054448	ENSG00000125804.9
3	lnc-FAM182A-4	chr20:26049553-26049840	ENSG00000125804.9
4	lnc-FAM182A-4	chr20:26054406-26054495	ENSG00000125804.9
5	lnc-FAM182A-4	chr20:26049675-26049840	ENSG00000125804.9
6	lnc-FAM182A-4	chr20:26049553-26049796	ENSG00000125804.9
7	lnc-FAM182A-4	chr20:26047198-26047273	ENSG00000125804.9
8	lnc-FAM182A-4	chr20:26054406-26054505	ENSG00000125804.9
9	lnc-FAM182A-4	chr20:26046283-26046420	ENSG00000125804.9
10	lnc-FAM182A-4	chr20:26056970-26057076	ENSG00000125804.9
11	lnc-FAM182A-4	chr20:26061824-26062026	ENSG00000125804.9
12	lnc-FAM182A-4	chr20:26049573-26049840	ENSG00000125804.9
13	lnc-FAM182A-4	chr20:26061824-26062026	ENSG00000125804.9
14	lnc-FAM182A-4	chr20:26049724-26049840	ENSG00000125804.9

No data

Variant related genes	Relation type
FAM182A	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200635903	chr20:26046379-26046380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs201507745	chr20:26046380-26046381	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs199646934	chr20:26046385-26046386	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs182129621	chr20:26046390-26046391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs186449509	chr20:26046416-26046417	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs199990892	chr20:26047634-26047635	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs200762590	chr20:26047653-26047654	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs368469111	chr20:26049048-26049049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs542909789	chr20:26054418-26054419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs111555265	chr20:26054422-26054423	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs113568451	chr20:26054459-26054460	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs367876612	chr20:26054484-26054485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs200395067	chr20:26054604-26054605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs528104864	chr20:26054623-26054624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs551430868	chr20:26054634-26054635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs112493849	chr20:26054643-26054644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112241679	chr20:26054652-26054653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111598620	chr20:26054655-26054656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs112584633	chr20:26054659-26054660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112896866	chr20:26054673-26054674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564852654	chr20:26054679-26054680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs530673080	chr20:26054696-26054697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs201204504	chr20:26054697-26054698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs74974087	chr20:26054708-26054709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs113053402	chr20:26054710-26054711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs200212460	chr20:26054712-26054713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs375025708	chr20:26054713-26054714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs570274508	chr20:26054730-26054731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs112484477	chr20:26054733-26054734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201740114	chr20:26054751-26054752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372964878	chr20:26054753-26054754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs112275163	chr20:26054763-26054764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs111381916	chr20:26054776-26054777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs202123292	chr20:26054795-26054796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112274107	chr20:26054796-26054797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112516094	chr20:26054803-26054804	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs113979573	chr20:26054806-26054807	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs199565704	chr20:26054826-26054827	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs112523194	chr20:26054834-26054835	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs535629264	chr20:26054840-26054841	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs113265804	chr20:26054843-26054844	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs549664794	chr20:26054850-26054851	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs111818475	chr20:26054859-26054860	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs34603329	chr20:26054883-26054884	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78493945	chr20:26054905-26054906	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs111143870	chr20:26054920-26054921	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs200005368	chr20:26054936-26054937	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534101635	chr20:26054943-26054944	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535302165	chr20:26054949-26054950	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs111574025	chr20:26054990-26054991	Enhancers ZNF genes & repeats Active TSS	n/a	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:12 , 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

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