Variant report

Variant	esv2494215
Chromosome Location	chr2:116196176-116197917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:116196453-116196805	GM12878	blood:	n/a	n/a
2	BCL11A	chr2:116196322-116196853	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:116196313-116196863	GM12878	blood:	n/a	n/a
4	CTCF	chr2:116196381-116196414	GM19239	blood:	n/a	n/a
5	CTCF	chr2:116196560-116196710	HMEC	breast:	n/a	n/a
6	CTCF	chr2:116196792-116196876	Medullo	brain:	n/a	n/a
7	CTCF	chr2:116196636-116196683	MCF-7	breast:	n/a	n/a
8	EBF1	chr2:116196300-116196816	GM12878	blood:	n/a	n/a
9	EP300	chr2:116196320-116196898	GM12878	blood:	n/a	n/a
10	EP300	chr2:116196659-116196901	GM12878	blood:	n/a	n/a
11	FOSL2	chr2:116196280-116196854	HepG2	liver:	n/a	n/a
12	FOSL2	chr2:116196257-116196821	HepG2	liver:	n/a	n/a
13	GABPA	chr2:116196296-116196887	HepG2	liver:	n/a	n/a
14	HEY1	chr2:116196304-116196623	K562	blood:	n/a	n/a
15	IRF4	chr2:116196213-116196806	GM12878	blood:	n/a	n/a
16	IRF4	chr2:116196179-116197041	GM12878	blood:	n/a	n/a
17	JUND	chr2:116196289-116196805	HepG2	liver:	n/a	n/a
18	JUND	chr2:116196721-116196839	HepG2	liver:	n/a	n/a
19	MAFK	chr2:116197533-116197670	HepG2	liver:	n/a	n/a
20	MYC	chr2:116196636-116196682	MCF-7	breast:	n/a	n/a
21	NR3C1	chr2:116196279-116196850	A549	lung:	n/a	n/a
22	PAX5	chr2:116196225-116196842	GM12878	blood:	n/a	n/a
23	PAX5	chr2:116196135-116196961	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:116196194-116196218	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr2:116196295-116196799	GM12878	blood:	n/a	n/a
26	POU2F2	chr2:116196176-116196936	GM12891	blood:	n/a	n/a
27	POU2F2	chr2:116196269-116196946	GM12878	blood:	n/a	n/a
28	REST	chr2:116196326-116196752	HepG2	liver:	n/a	n/a
29	RXRA	chr2:116196379-116196722	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr2:116196360-116196774	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr2:116196459-116196759	HepG2	liver:	n/a	n/a
32	SIX5	chr2:116196292-116196692	K562	blood:	n/a	n/a
33	SIX5	chr2:116196273-116196782	GM12878	blood:	n/a	n/a
34	SP1	chr2:116196453-116196940	HepG2	liver:	n/a	n/a
35	SP1	chr2:116196508-116196844	GM12878	blood:	n/a	n/a
36	SP1	chr2:116196231-116196856	GM12878	blood:	n/a	n/a
37	SPI1	chr2:116196297-116196891	GM12878	blood:	n/a	n/a
38	TAF1	chr2:116196308-116196904	HepG2	liver:	n/a	n/a
39	TCF12	chr2:116196472-116196746	GM12878	blood:	n/a	n/a
40	USF1	chr2:116196454-116196950	A549	lung:	n/a	n/a
41	USF1	chr2:116196319-116196725	HepG2	liver:	n/a	n/a
42	ZBTB33	chr2:116196451-116196924	HepG2	liver:	n/a	n/a
43	ZBTB33	chr2:116196215-116196846	GM12878	blood:	n/a	n/a
44	ZBTB33	chr2:116196519-116196932	K562	blood:	n/a	n/a
45	ZBTB33	chr2:116196375-116196963	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
DPP10	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78259760	chr2:116196183-116196184	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs556545997	chr2:116196250-116196251	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs117378642	chr2:116196273-116196274	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539147797	chr2:116196275-116196276	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs187452089	chr2:116196280-116196281	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs111330354	chr2:116196285-116196286	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs111578587	chr2:116196289-116196290	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs111876541	chr2:116196296-116196297	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs112108580	chr2:116196314-116196315	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs112422236	chr2:116196321-116196322	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs75799482	chr2:116196325-116196326	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs112658410	chr2:116196332-116196333	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs13397992	chr2:116196357-116196358	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs111948925	chr2:116196361-116196362	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs111447987	chr2:116196368-116196369	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs77027491	chr2:116196374-116196375	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111672481	chr2:116196386-116196387	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs574706623	chr2:116196388-116196389	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs61081814	chr2:116196393-116196394	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs59075983	chr2:116196397-116196398	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs76892169	chr2:116196404-116196405	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs78546591	chr2:116196410-116196411	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs543349693	chr2:116196422-116196423	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs60543060	chr2:116196429-116196430	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs111287241	chr2:116196433-116196434	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs376396656	chr2:116196434-116196435	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs34971157	chr2:116196440-116196441	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs34940083	chr2:116196446-116196447	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs563337131	chr2:116196458-116196459	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs57442248	chr2:116196465-116196466	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs34609071	chr2:116196476-116196477	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112431211	chr2:116196501-116196502	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs34464355	chr2:116196512-116196513	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs112617944	chr2:116196518-116196519	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs113129855	chr2:116196530-116196531	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs112425295	chr2:116196537-116196538	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs28488534	chr2:116196548-116196549	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs60833883	chr2:116196554-116196555	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs572843429	chr2:116196566-116196567	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs368812649	chr2:116196584-116196585	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs556070883	chr2:116196590-116196591	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs372968572	chr2:116196602-116196603	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs34110208	chr2:116196620-116196621	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs560156146	chr2:116196626-116196627	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs375112618	chr2:116196638-116196639	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs843413	chr2:116196656-116196657	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs551858224	chr2:116196657-116196658	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs55960701	chr2:116196674-116196675	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs77860391	chr2:116196692-116196693	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs77577194	chr2:116196710-116196711	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116189400-116198800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:116194400-116198800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:116195400-116196600	Weak transcription	Pancreas	Pancrea
4	chr2:116196200-116196400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:116196400-116196600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:116196600-116196800	Genic enhancers	Pancreas	Pancrea
7	chr2:116196600-116203400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:116196800-116203400	Weak transcription	Pancreas	Pancrea
9	chr2:116197400-116197800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:116197400-116197800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:116197400-116198000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr2:116197600-116197800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:116197600-116198600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr2:116197600-116198800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:116197800-116198000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr2:116197800-116198000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr2:116197800-116198400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:116197800-116198800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:116197800-116201200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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