Variant report

Variant	nsv8663
Chromosome Location	chr10:52466349-52495942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:99)
CpG islands
(count:124)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:99 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:52483591-52483970	GM12878	blood:	n/a	n/a
2	BCL11A	chr10:52483579-52483874	GM12878	blood:	n/a	n/a
3	BCL11A	chr10:52483588-52483995	GM12878	blood:	n/a	n/a
4	CEBPB	chr10:52475847-52476153	A549	lung:	n/a	chr10:52475994-52476007 chr10:52475995-52476006
5	CEBPB	chr10:52493141-52493341	K562	blood:	n/a	chr10:52493242-52493253 chr10:52493296-52493307 chr10:52493273-52493284
6	CEBPB	chr10:52493265-52493366	Hela-S3	cervix:	n/a	chr10:52493296-52493307 chr10:52493273-52493284
7	CEBPB	chr10:52475866-52476066	K562	blood:	n/a	chr10:52475994-52476007 chr10:52475995-52476006
8	CEBPB	chr10:52493232-52493370	HepG2	liver:	n/a	chr10:52493242-52493253 chr10:52493296-52493307 chr10:52493273-52493284
9	CEBPB	chr10:52475848-52476130	HepG2	liver:	n/a	chr10:52475994-52476007 chr10:52475995-52476006
10	CEBPB	chr10:52475853-52476055	IMR90	lung:	n/a	chr10:52475994-52476007 chr10:52475995-52476006
11	CTCF	chr10:52486638-52486670	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr10:52495403-52495434	Lung_OC	lung:	n/a	n/a
13	CTCF	chr10:52478684-52478689	GM10266	blood:	n/a	n/a
14	CTCF	chr10:52466497-52466500	GM13976	blood:	n/a	n/a
15	CTCF	chr10:52483805-52483858	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr10:52466451-52466489	GM13976	blood:	n/a	n/a
17	E2F6	chr10:52474606-52474779	K562	blood:	n/a	n/a
18	EBF1	chr10:52483589-52483914	GM12878	blood:	n/a	n/a
19	EBF1	chr10:52483667-52483892	GM12878	blood:	n/a	n/a
20	GABPA	chr10:52487631-52487735	Hela-S3	cervix:	n/a	n/a
21	GABPA	chr10:52487630-52487765	GM12878	blood:	n/a	n/a
22	GABPA	chr10:52487539-52487831	Hela-S3	cervix:	n/a	n/a
23	GABPA	chr10:52487623-52487781	HepG2	liver:	n/a	n/a
24	GABPA	chr10:52469492-52469728	Hela-S3	cervix:	n/a	n/a
25	GABPA	chr10:52487589-52487767	HepG2	liver:	n/a	n/a
26	GATA2	chr10:52469922-52470348	K562	blood:	n/a	chr10:52470207-52470217 chr10:52470208-52470217 chr10:52470208-52470215 chr10:52470205-52470215
27	GATA3	chr10:52469958-52470255	T-47D	breast:	n/a	chr10:52470207-52470217 chr10:52470208-52470217 chr10:52470208-52470215 chr10:52470205-52470215
28	HEY1	chr10:52487596-52487767	K562	blood:	n/a	n/a
29	HEY1	chr10:52487489-52487777	HepG2	liver:	n/a	n/a
30	HEY1	chr10:52487590-52487754	K562	blood:	n/a	n/a
31	IRF4	chr10:52483538-52484065	GM12878	blood:	n/a	n/a
32	JUN	chr10:52490288-52490322	K562	blood:	n/a	n/a
33	KAP1	chr10:52495300-52495431	K562	blood:	n/a	n/a
34	MAFK	chr10:52476878-52477010	HepG2	liver:	n/a	n/a
35	MXI1	chr10:52478824-52479031	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr10:52472408-52472432	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr10:52475977-52476167	MCF10A-Er-Src	breast:	n/a	n/a
38	PAX5	chr10:52483461-52483968	GM12878	blood:	n/a	n/a
39	PAX5	chr10:52483688-52483873	GM12878	blood:	n/a	n/a
40	PAX5	chr10:52483568-52483918	GM12878	blood:	n/a	n/a
41	PBX3	chr10:52483643-52483902	GM12878	blood:	n/a	n/a
42	PBX3	chr10:52483709-52483837	GM12878	blood:	n/a	n/a
43	PBX3	chr10:52470373-52470501	GM12878	blood:	n/a	n/a
44	POLR2A	chr10:52487676-52487808	MCF-7	breast:	n/a	n/a
45	POLR2A	chr10:52487592-52487731	GM12878	blood:	n/a	n/a
46	POLR2A	chr10:52487503-52487921	MCF-7	breast:	n/a	n/a
47	POLR2A	chr10:52469177-52470299	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr10:52469430-52470081	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr10:52487519-52487782	GM12891	blood:	n/a	n/a
50	POLR2A	chr10:52487545-52487768	Hela-S3	cervix:	n/a	n/a

(count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:52487619-52487669	AG04450	lung:	fetal
2	chr10:52487619-52487669	K562	blood:	n/a
3	chr10:52487619-52487669	AG04450	lung:	fetal
4	chr10:52487619-52487669	K562	blood:	n/a
5	chr10:52487693-52487743	NB4	blood:	n/a
6	chr10:52487693-52487743	AG10803	skin:	n/a
7	chr10:52487693-52487743	A549	lung:	n/a
8	chr10:52487693-52487743	AG09309	skin:	n/a
9	chr10:52487619-52487669	Jurkat	blood:	n/a
10	chr10:52487619-52487669	LNCaP	prostate:	n/a
11	chr10:52487619-52487669	SK-N-SH_RA	brain:	n/a
12	chr10:52487693-52487743	HIPEpiC	eye:	n/a
13	chr10:52487619-52487669	HMEC	breast:	n/a
14	chr10:52487619-52487669	HCF	heart:	n/a
15	chr10:52487619-52487669	GM19239	blood:	n/a
16	chr10:52487619-52487669	MCF-7	breast:	n/a
17	chr10:52487619-52487669	NB4	blood:	n/a
18	chr10:52487693-52487743	HPAEpiC	pulmonary alveolar:	n/a
19	chr10:52487619-52487669	A549	lung:	n/a
20	chr10:52487619-52487669	MCF10A-Er-Src	breast:	n/a
21	chr10:52487619-52487669	AG04449	skin:	fetal
22	chr10:52487693-52487743	BJ	skin:	n/a
23	chr10:52487693-52487743	HCM	heart:	n/a
24	chr10:52487693-52487743	HMEC	breast:	n/a
25	chr10:52487619-52487669	NHDF-neo	bronchial:	n/a
26	chr10:52487619-52487669	HCPEpiC	choroid plexus:	n/a
27	chr10:52487619-52487669	HCM	heart:	n/a
28	chr10:52487619-52487669	H1-hESC	embryonic stem cell:	embryo
29	chr10:52487693-52487743	HRCEpiC	kidney:	n/a
30	chr10:52487693-52487743	AG09319	gingival:	n/a
31	chr10:52487693-52487743	PANC-1	pancreas:	n/a
32	chr10:52487693-52487743	MCF-7	breast:	n/a
33	chr10:52487619-52487669	AG09309	skin:	n/a
34	chr10:52487693-52487743	PFSK-1	brain:	n/a
35	chr10:52487619-52487669	ECC-1	luminal epithelium:	n/a
36	chr10:52487693-52487743	IMR90	lung:	fetal
37	chr10:52487619-52487669	HRCEpiC	kidney:	n/a
38	chr10:52487619-52487669	HCT-116	colon:	n/a
39	chr10:52487619-52487669	IMR90	lung:	fetal
40	chr10:52487619-52487669	CMK	blood:	n/a
41	chr10:52487693-52487743	ProgFib	skin:	n/a
42	chr10:52487619-52487669	HPAEpiC	pulmonary alveolar:	n/a
43	chr10:52487693-52487743	CMK	blood:	n/a
44	chr10:52487619-52487669	SKMC	muscle:	n/a
45	chr10:52487693-52487743	AG04450	lung:	fetal
46	chr10:52487619-52487669	T-47D	breast:	n/a
47	chr10:52487693-52487743	ovcar-3	ovarian:	n/a
48	chr10:52487693-52487743	HEK293	kidney:	embryo
49	chr10:52487619-52487669	Hela-S3	cervix:	n/a
50	chr10:52487619-52487669	HRE	kidney:	n/a

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

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

No data

Variant related genes	Relation type
CTSLP4	TF binding region
PGGT1BP1	TF binding region
ASAH2B	TF binding region
CTSLP4	CpG island
PGGT1BP1	CpG island
ASAH2B	CpG island
ENSG00000204147	chromatin interactions

Extended variants
information (count: 245 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377112053	chr10:52469922-52469923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs202146199	chr10:52469952-52469953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530395231	chr10:52469975-52469976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs550650153	chr10:52469992-52469993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs376718562	chr10:52470029-52470030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs191521357	chr10:52470043-52470044	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs2495593	chr10:52470055-52470056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs536487428	chr10:52470061-52470062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs182795100	chr10:52470062-52470063	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566799580	chr10:52470067-52470068	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs538921267	chr10:52470108-52470109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs61857102	chr10:52470133-52470134	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs566541630	chr10:52470175-52470176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs534940992	chr10:52470178-52470179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs555136018	chr10:52470192-52470193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575730530	chr10:52470193-52470194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs190021242	chr10:52470197-52470198	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs61857103	chr10:52470213-52470214	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs369106301	chr10:52470226-52470227	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs377338107	chr10:52470257-52470258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs540870083	chr10:52470305-52470306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs10821611	chr10:52470348-52470349	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182180368	chr10:52470408-52470409	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs546108712	chr10:52470417-52470418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562792370	chr10:52470446-52470447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs530431679	chr10:52470449-52470450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs11598950	chr10:52470484-52470485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs562379081	chr10:52472011-52472012	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs574353455	chr10:52472032-52472033	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs530780716	chr10:52483303-52483304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74131474	chr10:52483330-52483331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551206577	chr10:52483346-52483347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17498728	chr10:52483354-52483355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs530648123	chr10:52483365-52483366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143174661	chr10:52483366-52483367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185073102	chr10:52483367-52483368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114682256	chr10:52483438-52483439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546870450	chr10:52483453-52483454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148282112	chr10:52483464-52483465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538989353	chr10:52483491-52483492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59122941	chr10:52483528-52483529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs114768412	chr10:52483551-52483552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs16914974	chr10:52483569-52483570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532252255	chr10:52483584-52483585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554731756	chr10:52483646-52483647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550658777	chr10:52483713-52483714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77519330	chr10:52483741-52483742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114276511	chr10:52483759-52483760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554415575	chr10:52483762-52483763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34582283	chr10:52483763-52483764	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:7 , 50 per page) page: 1

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

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