Variant report

Variant	nsv551037
Chromosome Location	chr10:57050110-57099471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr10:57082402-57082655	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr10:57094577-57094601	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr10:57091511-57091621	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr10:57070762-57071104	HepG2	liver:	n/a	chr10:57070961-57070978 chr10:57070962-57070973 chr10:57070830-57070841 chr10:57070932-57070945 chr10:57070932-57070943 chr10:57070963-57070975 chr10:57070828-57070841
5	CEBPB	chr10:57060433-57060785	HepG2	liver:	n/a	chr10:57060613-57060624
6	CEBPB	chr10:57060454-57060783	IMR90	lung:	n/a	chr10:57060613-57060624
7	CEBPB	chr10:57082447-57082681	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr10:57070782-57071102	IMR90	lung:	n/a	chr10:57070961-57070978 chr10:57070962-57070973 chr10:57070830-57070841 chr10:57070932-57070945 chr10:57070932-57070943 chr10:57070963-57070975 chr10:57070828-57070841
9	CEBPB	chr10:57060510-57060769	A549	lung:	n/a	chr10:57060613-57060624
10	CEBPB	chr10:57060537-57060765	K562	blood:	n/a	chr10:57060613-57060624
11	CEBPB	chr10:57090142-57090629	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr10:57060444-57060785	Hela-S3	cervix:	n/a	chr10:57060613-57060624
13	CTCF	chr10:57065080-57065230	BE2_C	brain:	n/a	n/a
14	CTCF	chr10:57068040-57068190	GM12873	blood:	n/a	n/a
15	CTCF	chr10:57098413-57098475	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F4	chr10:57095013-57095099	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr10:57053954-57053984	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr10:57071584-57071586	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr10:57071593-57071937	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr10:57090278-57090598	Hela-S3	cervix:	n/a	chr10:57090443-57090452
21	FOS	chr10:57087941-57088213	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr10:57090397-57090563	MCF10A-Er-Src	breast:	n/a	chr10:57090441-57090453 chr10:57090442-57090451 chr10:57090443-57090452
23	FOS	chr10:57071554-57071985	MCF10A-Er-Src	breast:	n/a	chr10:57071826-57071836 chr10:57071826-57071836
24	FOS	chr10:57071614-57071918	MCF10A-Er-Src	breast:	n/a	chr10:57071826-57071836 chr10:57071826-57071836
25	FOS	chr10:57071573-57072000	MCF10A-Er-Src	breast:	n/a	chr10:57071826-57071836 chr10:57071826-57071836
26	FOS	chr10:57085738-57085948	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr10:57071460-57072009	MCF10A-Er-Src	breast:	n/a	chr10:57072000-57072007 chr10:57071826-57071836 chr10:57071826-57071836
28	FOS	chr10:57090331-57090590	MCF10A-Er-Src	breast:	n/a	chr10:57090441-57090453 chr10:57090442-57090451 chr10:57090443-57090452
29	FOS	chr10:57087980-57088202	MCF10A-Er-Src	breast:	n/a	n/a
30	FOSL2	chr10:57071500-57072016	SK-N-SH	brain:	n/a	chr10:57072000-57072007 chr10:57071826-57071836 chr10:57071826-57071836
31	GATA3	chr10:57090356-57090437	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr10:57070846-57071308	SK-N-SH	brain:	n/a	chr10:57070928-57070935
33	GATA3	chr10:57070755-57071244	SH-SY5Y	brain:	n/a	chr10:57070928-57070935
34	GATA3	chr10:57071418-57072157	SK-N-SH	brain:	n/a	chr10:57071825-57071834
35	GATA3	chr10:57085437-57086066	SK-N-SH	brain:	n/a	n/a
36	GATA3	chr10:57070809-57071306	SK-N-SH	brain:	n/a	chr10:57070928-57070935
37	GATA3	chr10:57060407-57060652	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr10:57085736-57085851	SH-SY5Y	brain:	n/a	n/a
39	IRF1	chr10:57090201-57090219	K562	blood:	n/a	n/a
40	IRF3	chr10:57086846-57086850	GM12878	blood:	n/a	n/a
41	IRF3	chr10:57060923-57060949	GM12878	blood:	n/a	n/a
42	JUN	chr10:57090337-57090558	HepG2	liver:	n/a	chr10:57090441-57090453 chr10:57090442-57090451 chr10:57090443-57090452
43	JUND	chr10:57090257-57090652	Hela-S3	cervix:	n/a	chr10:57090441-57090452 chr10:57090441-57090453 chr10:57090442-57090451 chr10:57090443-57090452
44	JUND	chr10:57090282-57090583	HepG2	liver:	n/a	chr10:57090441-57090452 chr10:57090441-57090453 chr10:57090442-57090451 chr10:57090443-57090452
45	JUND	chr10:57071556-57071952	Hela-S3	cervix:	n/a	chr10:57071826-57071836 chr10:57071826-57071836
46	JUND	chr10:57090238-57090759	SK-N-SH	brain:	n/a	chr10:57090441-57090452 chr10:57090441-57090453 chr10:57090442-57090451 chr10:57090443-57090452
47	KAP1	chr10:57052836-57053249	HEK293	kidney:	n/a	n/a
48	MAFF	chr10:57069967-57070188	HepG2	liver:	n/a	chr10:57070099-57070113 chr10:57070100-57070118
49	MAFF	chr10:57069995-57070241	K562	blood:	n/a	chr10:57070099-57070113 chr10:57070100-57070118
50	MAFF	chr10:57075925-57076062	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:57070275..57072956-chr10:57073924..57076698,2	K562	blood:
2	chr10:57070275..57072956-chr10:57073924..57076698,2	K562	blood:
3	chr10:57063877..57064377-chr19:2475827..2476338,2	HCT-116	colon:
4	chr10:57077687..57079914-chr10:57092227..57093981,2	K562	blood:

Variant related genes	Relation type
PCDH15	TF binding region
ENSG00000099860	chromatin interactions
ENSG00000150275	chromatin interactions

Extended variants
information (count: 613 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80308800	chr10:57055803-57055804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76427320	chr10:57055872-57055873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76984045	chr10:57055873-57055874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78462248	chr10:57055874-57055875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375885810	chr10:57055892-57055893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558472795	chr10:57055904-57055905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138165487	chr10:57055922-57055923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77595067	chr10:57055936-57055937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557045802	chr10:57056012-57056013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141790190	chr10:57056032-57056033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150578944	chr10:57056037-57056038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559400269	chr10:57056042-57056043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572741827	chr10:57056166-57056167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544834994	chr10:57056177-57056178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139471962	chr10:57056218-57056219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530687034	chr10:57056266-57056267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149659721	chr10:57056292-57056293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560753519	chr10:57056293-57056294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369914509	chr10:57056308-57056309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546766516	chr10:57056319-57056320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184353530	chr10:57056376-57056377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528690438	chr10:57063904-57063905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551904162	chr10:57063906-57063907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76067988	chr10:57063956-57063957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531076308	chr10:57063972-57063973	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550849072	chr10:57063995-57063996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567367897	chr10:57064030-57064031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190888289	chr10:57064073-57064074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs74486189	chr10:57064099-57064100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566910473	chr10:57064140-57064141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538474809	chr10:57064224-57064225	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558682323	chr10:57064242-57064243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs180800615	chr10:57064249-57064250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186663128	chr10:57064322-57064323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201526302	chr10:57064366-57064367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543042308	chr10:57065001-57065002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116979946	chr10:57065015-57065016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561335262	chr10:57065051-57065052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528974202	chr10:57065084-57065085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552680750	chr10:57065119-57065120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569121228	chr10:57065139-57065140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538030760	chr10:57065166-57065167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7897484	chr10:57065195-57065196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574738218	chr10:57065250-57065251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563689990	chr10:57065267-57065268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143967034	chr10:57065370-57065371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574109194	chr10:57065392-57065393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533577543	chr10:57065396-57065397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115378079	chr10:57065410-57065411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148633394	chr10:57065424-57065425	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Obesity	21956041	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
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57055800-57056400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:57065000-57065600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:57068000-57068600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr10:57069800-57070800	Weak transcription	Fetal Brain Male	brain
5	chr10:57070800-57072600	Enhancers	Fetal Brain Male	brain
6	chr10:57071000-57072400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:57071400-57072400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr10:57072000-57072600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:57079400-57079600	Enhancers	Right Atrium	heart
10	chr10:57079400-57082600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr10:57079600-57079800	Weak transcription	Right Atrium	heart
12	chr10:57079800-57080000	ZNF genes & repeats	Right Atrium	heart
13	chr10:57079800-57080200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:57080200-57080600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:57082600-57083200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr10:57085600-57086000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:57090600-57091000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr10:57091000-57094800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr10:57094800-57096800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr10:57096400-57097200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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