Variant report

Variant	esv1825222
Chromosome Location	chr10:52477544-52527856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:542)
CpG islands
(count:979)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr10:52499751-52500379	K562	blood:	n/a	n/a
2	ATF2	chr10:52499576-52499831	GM12878	blood:	n/a	n/a
3	ATF2	chr10:52499272-52499770	GM12878	blood:	n/a	n/a
4	ATF3	chr10:52499803-52500110	K562	blood:	n/a	n/a
5	BACH1	chr10:52499491-52499981	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr10:52483591-52483970	GM12878	blood:	n/a	n/a
7	BATF	chr10:52500151-52500419	GM12878	blood:	n/a	chr10:52500262-52500272
8	BCL11A	chr10:52483588-52483995	GM12878	blood:	n/a	n/a
9	BCL11A	chr10:52483579-52483874	GM12878	blood:	n/a	n/a
10	BCLAF1	chr10:52499532-52500122	GM12878	blood:	n/a	n/a
11	BHLHE40	chr10:52499519-52500222	K562	blood:	n/a	n/a
12	CBX3	chr10:52499234-52500020	K562	blood:	n/a	chr10:52499590-52499601
13	CBX3	chr10:52499171-52500475	K562	blood:	n/a	chr10:52499590-52499601
14	CCNT2	chr10:52499496-52499855	K562	blood:	n/a	n/a
15	CEBPB	chr10:52498122-52498408	K562	blood:	n/a	n/a
16	CEBPB	chr10:52493141-52493341	K562	blood:	n/a	chr10:52493242-52493253 chr10:52493296-52493307 chr10:52493273-52493284
17	CEBPB	chr10:52493232-52493370	HepG2	liver:	n/a	chr10:52493242-52493253 chr10:52493296-52493307 chr10:52493273-52493284
18	CEBPB	chr10:52493265-52493366	Hela-S3	cervix:	n/a	chr10:52493296-52493307 chr10:52493273-52493284
19	CEBPD	chr10:52499531-52500112	K562	blood:	n/a	n/a
20	CEBPD	chr10:52499627-52499966	HepG2	liver:	n/a	n/a
21	CEBPD	chr10:52499550-52499777	HepG2	liver:	n/a	n/a
22	CHD1	chr10:52499351-52499514	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr10:52499507-52499707	GM12878	blood:	n/a	n/a
24	CHD2	chr10:52499605-52499971	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr10:52499326-52499791	HepG2	liver:	n/a	n/a
26	CHD2	chr10:52499343-52499986	K562	blood:	n/a	n/a
27	CHD2	chr10:52499300-52499895	GM12878	blood:	n/a	n/a
28	CHD2	chr10:52499316-52500072	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr10:52499598-52500075	A549	lung:	n/a	n/a
30	CREB1	chr10:52499434-52500215	GM12878	blood:	n/a	n/a
31	CREB1	chr10:52499492-52500259	HepG2	liver:	n/a	n/a
32	CREB1	chr10:52499487-52500248	K562	blood:	n/a	n/a
33	CREB1	chr10:52499358-52500101	A549	lung:	n/a	n/a
34	CREB1	chr10:52499362-52500274	K562	blood:	n/a	n/a
35	CREB1	chr10:52499462-52500288	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr10:52499269-52500287	HepG2	liver:	n/a	n/a
37	CREB1	chr10:52499365-52500221	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr10:52499180-52499330	HCM	heart:	n/a	n/a
39	CTCF	chr10:52499300-52499450	Caco-2	colon:	n/a	n/a
40	CTCF	chr10:52499820-52499970	HFF	foreskin:	n/a	n/a
41	CTCF	chr10:52499180-52499330	GM12865	blood:	n/a	n/a
42	CTCF	chr10:52499440-52499590	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr10:52513971-52514070	LNCaP	prostate:	n/a	chr10:52514009-52514030
44	CTCF	chr10:52499696-52499782	Spleen_OC	spleen:	n/a	n/a
45	CTCF	chr10:52517425-52517445	GM20000	blood:	n/a	n/a
46	CTCF	chr10:52499140-52499290	HMF	breast:	n/a	n/a
47	CTCF	chr10:52478684-52478689	GM10266	blood:	n/a	n/a
48	CTCF	chr10:52499740-52499890	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr10:52499760-52499910	BE2_C	brain:	n/a	n/a
50	CTCF	chr10:52495403-52495434	Lung_OC	lung:	n/a	n/a

(count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:52496341-52496391	Caco-2	colon:	n/a
2	chr10:52499562-52499612	HRCEpiC	kidney:	n/a
3	chr10:52499888-52499938	AG04449	skin:	fetal
4	chr10:52496341-52496391	Caco-2	colon:	n/a
5	chr10:52499562-52499612	HRCEpiC	kidney:	n/a
6	chr10:52499888-52499938	AG04449	skin:	fetal
7	chr10:52499568-52499618	AG09309	skin:	n/a
8	chr10:52487619-52487669	BE2_C	brain:	n/a
9	chr10:52499747-52499797	U87	brain:	n/a
10	chr10:52499888-52499938	AG09319	gingival:	n/a
11	chr10:52500020-52500070	PrEC	prostate:	n/a
12	chr10:52508516-52508566	AoSMC	blood vessel:	n/a
13	chr10:52487693-52487743	AG09319	gingival:	n/a
14	chr10:52499562-52499612	HPAEpiC	pulmonary alveolar:	n/a
15	chr10:52498929-52498979	HCT-116	colon:	n/a
16	chr10:52499568-52499618	RPTEC	kidney:	n/a
17	chr10:52500425-52500475	SK-N-SH	brain:	n/a
18	chr10:52500020-52500070	SK-N-SH	brain:	n/a
19	chr10:52499888-52499938	HIPEpiC	eye:	n/a
20	chr10:52498929-52498979	HCF	heart:	n/a
21	chr10:52499568-52499618	NH-A	brain:	n/a
22	chr10:52487619-52487669	HEK293	kidney:	embryo
23	chr10:52500020-52500070	GM12878	blood:	n/a
24	chr10:52508516-52508566	SKMC	muscle:	n/a
25	chr10:52499393-52499443	AG04449	skin:	fetal
26	chr10:52498929-52498979	MCF10A-Er-Src	breast:	n/a
27	chr10:52499568-52499618	HCT-116	colon:	n/a
28	chr10:52499568-52499618	IMR90	lung:	fetal
29	chr10:52499562-52499612	T-47D	breast:	n/a
30	chr10:52502681-52502731	HCF	heart:	n/a
31	chr10:52499393-52499443	NB4	blood:	n/a
32	chr10:52487693-52487743	NHBE	bronchial:	n/a
33	chr10:52499393-52499443	HCF	heart:	n/a
34	chr10:52500020-52500070	Hepatocyte	liver:	n/a
35	chr10:52500089-52500139	T-47D	breast:	n/a
36	chr10:52508516-52508566	GM12878	blood:	n/a
37	chr10:52499568-52499618	CMK	blood:	n/a
38	chr10:52500020-52500070	HMEC	breast:	n/a
39	chr10:52508516-52508566	NHBE	bronchial:	n/a
40	chr10:52500187-52500237	HMEC	breast:	n/a
41	chr10:52499568-52499618	HUVEC	blood vessel:	n/a
42	chr10:52500089-52500139	HEEpiC	esophagus:	n/a
43	chr10:52487619-52487669	GM12891	blood:	n/a
44	chr10:52496341-52496391	HRCEpiC	kidney:	n/a
45	chr10:52496341-52496391	AG09309	skin:	n/a
46	chr10:52487693-52487743	GM06990	blood:	n/a
47	chr10:52499568-52499618	HCPEpiC	choroid plexus:	n/a
48	chr10:52508516-52508566	RPTEC	kidney:	n/a
49	chr10:52496341-52496391	HAEpiC	amniotic membrane:	n/a
50	chr10:52499571-52499621	HNPCEpiC	eye:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52494752..52497133-chr10:52497800..52500428,2	K562	blood:
2	chr10:52382538..52386733-chr10:52497918..52501112,4	MCF-7	breast:
3	chr10:52476123..52479908-chr10:52500945..52503926,3	K562	blood:
4	chr10:52476123..52479908-chr10:52500945..52503926,3	K562	blood:
5	chr10:52489655..52491941-chr10:52496784..52498508,2	K562	blood:
6	chr10:52495633..52497465-chr10:52497957..52500428,2	K562	blood:
7	chr10:52473460..52475005-chr10:52487754..52490480,2	K562	blood:
8	chr10:52489655..52491941-chr10:52496784..52498508,2	K562	blood:

No data

Variant related genes	Relation type
PGGT1BP1	TF binding region
ASAH2B	TF binding region
PGGT1BP1	CpG island
ASAH2B	CpG island
ENSG00000226200	chromatin interactions
ENSG00000198964	chromatin interactions
ENSG00000204147	chromatin interactions

Extended variants
information (count: 833 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530780716	chr10:52483303-52483304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74131474	chr10:52483330-52483331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551206577	chr10:52483346-52483347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17498728	chr10:52483354-52483355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs530648123	chr10:52483365-52483366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143174661	chr10:52483366-52483367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185073102	chr10:52483367-52483368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114682256	chr10:52483438-52483439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546870450	chr10:52483453-52483454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148282112	chr10:52483464-52483465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538989353	chr10:52483491-52483492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs59122941	chr10:52483528-52483529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114768412	chr10:52483551-52483552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs16914974	chr10:52483569-52483570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532252255	chr10:52483584-52483585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554731756	chr10:52483646-52483647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550658777	chr10:52483713-52483714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77519330	chr10:52483741-52483742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114276511	chr10:52483759-52483760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554415575	chr10:52483762-52483763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34582283	chr10:52483763-52483764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572787847	chr10:52483809-52483810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35964247	chr10:52483811-52483812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536420856	chr10:52483847-52483848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35199462	chr10:52483852-52483853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35986711	chr10:52483873-52483874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369803735	chr10:52483883-52483884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10821661	chr10:52483893-52483894	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564879687	chr10:52483898-52483899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35129366	chr10:52483900-52483901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367953406	chr10:52483902-52483903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35382783	chr10:52483911-52483912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34250744	chr10:52483940-52483941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34927792	chr10:52483967-52483968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34626951	chr10:52483969-52483970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530622002	chr10:52483980-52483981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78379366	chr10:52483987-52483988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561067367	chr10:52484003-52484004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529887836	chr10:52484009-52484010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35286679	chr10:52484028-52484029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546932071	chr10:52484047-52484048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377330945	chr10:52484064-52484065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34008802	chr10:52484076-52484077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34037401	chr10:52484104-52484105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35905291	chr10:52484118-52484119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34337016	chr10:52484141-52484142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35563538	chr10:52484153-52484154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566743716	chr10:52484195-52484196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34289869	chr10:52484198-52484199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531876783	chr10:52485004-52485005	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52483200-52484200	Enhancers	GM12878-XiMat	blood
2	chr10:52485000-52485600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:52487800-52488000	Bivalent Enhancer	K562	blood
4	chr10:52488000-52488200	Enhancers	K562	blood
5	chr10:52492800-52493000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:52493000-52493200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:52493200-52493800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:52498200-52498800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr10:52498200-52499000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr10:52498400-52499000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:52498600-52499000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:52498800-52499000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:52498800-52499000	Enhancers	Primary B cells from peripheral blood	blood
14	chr10:52498800-52499000	Enhancers	Primary T cells from cord blood	blood
15	chr10:52498800-52499000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr10:52498800-52499000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr10:52498800-52499000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr10:52498800-52499000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr10:52498800-52499000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr10:52498800-52499000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr10:52498800-52499000	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr10:52498800-52499000	Enhancers	Fetal Stomach	stomach
23	chr10:52498800-52499000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr10:52498800-52499000	Enhancers	HepG2	liver
25	chr10:52498800-52499200	Enhancers	Gastric	stomach
26	chr10:52498800-52499200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr10:52498800-52499400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:52498800-52500600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:52498800-52500600	Active TSS	HSMM	muscle
30	chr10:52498800-52500800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr10:52499000-52499200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:52499000-52499200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr10:52499000-52499200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
34	chr10:52499000-52499200	Enhancers	Primary hematopoietic stem cells	blood
35	chr10:52499000-52499200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr10:52499000-52499200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr10:52499000-52499200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:52499000-52499200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr10:52499000-52499200	Enhancers	Fetal Brain Male	brain
40	chr10:52499000-52499200	Enhancers	Fetal Heart	heart
41	chr10:52499000-52499200	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr10:52499000-52499200	Enhancers	Fetal Lung	lung
43	chr10:52499000-52499200	Enhancers	Left Ventricle	heart
44	chr10:52499000-52499200	Enhancers	Lung	lung
45	chr10:52499000-52499200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr10:52499000-52499200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr10:52499000-52499200	Flanking Active TSS	Stomach Mucosa	stomach
48	chr10:52499000-52499200	Enhancers	Spleen	Spleen
49	chr10:52499000-52499200	Flanking Active TSS	HUVEC	blood vessel
50	chr10:52499000-52499200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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