Variant report

Variant	nsv508578
Chromosome Location	chr10:42688605-42719087
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	BATF	chr10:42704531-42704782	GM12878	blood:	n/a	chr10:42704640-42704651
2	BATF	chr10:42696631-42696866	GM12878	blood:	n/a	n/a
3	BATF	chr10:42704442-42704772	GM12878	blood:	n/a	chr10:42704640-42704651
4	BATF	chr10:42691041-42691261	GM12878	blood:	n/a	n/a
5	BATF	chr10:42697926-42698033	GM12878	blood:	n/a	n/a
6	BCL11A	chr10:42705685-42705867	GM12878	blood:	n/a	n/a
7	BCL11A	chr10:42703088-42703254	GM12878	blood:	n/a	n/a
8	BCL11A	chr10:42704506-42704681	GM12878	blood:	n/a	n/a
9	BCL11A	chr10:42698731-42698923	GM12878	blood:	n/a	n/a
10	BCL11A	chr10:42704553-42704791	GM12878	blood:	n/a	n/a
11	BHLHE40	chr10:42693752-42693966	HepG2	liver:	n/a	n/a
12	CTCF	chr10:42692494-42692546	LNCaP	prostate:	n/a	n/a
13	CTCF	chr10:42699760-42699849	HepG2	liver:	n/a	n/a
14	CTCF	chr10:42707158-42707199	Medullo	brain:	n/a	n/a
15	CTCF	chr10:42715167-42715245	Lung_OC	lung:	n/a	n/a
16	CTCF	chr10:42697032-42697129	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr10:42707141-42707146	Medullo	brain:	n/a	n/a
18	EBF1	chr10:42689438-42689663	GM12878	blood:	n/a	n/a
19	EBF1	chr10:42704567-42704741	GM12878	blood:	n/a	n/a
20	EP300	chr10:42698328-42698772	GM12878	blood:	n/a	n/a
21	EP300	chr10:42700875-42701090	GM12878	blood:	n/a	n/a
22	EP300	chr10:42693629-42693876	GM12878	blood:	n/a	n/a
23	EP300	chr10:42702850-42703432	GM12878	blood:	n/a	n/a
24	EP300	chr10:42705401-42705917	GM12878	blood:	n/a	chr10:42705842-42705851
25	EP300	chr10:42688811-42689139	GM12878	blood:	n/a	n/a
26	EP300	chr10:42707242-42707687	GM12878	blood:	n/a	n/a
27	EP300	chr10:42702656-42702840	GM12878	blood:	n/a	n/a
28	EP300	chr10:42689201-42689655	GM12878	blood:	n/a	n/a
29	EP300	chr10:42705641-42705786	GM12878	blood:	n/a	n/a
30	EP300	chr10:42689151-42689312	GM12878	blood:	n/a	n/a
31	FOSL2	chr10:42705602-42706000	HepG2	liver:	n/a	chr10:42705842-42705850 chr10:42705841-42705851 chr10:42705839-42705850 chr10:42705841-42705851 chr10:42705841-42705851 chr10:42705842-42705849 chr10:42705842-42705850 chr10:42705841-42705851
32	FOSL2	chr10:42707034-42707684	HepG2	liver:	n/a	n/a
33	FOSL2	chr10:42690921-42691289	HepG2	liver:	n/a	n/a
34	FOSL2	chr10:42688818-42689525	HepG2	liver:	n/a	n/a
35	FOSL2	chr10:42693748-42693979	HepG2	liver:	n/a	n/a
36	FOSL2	chr10:42693555-42693971	HepG2	liver:	n/a	n/a
37	FOSL2	chr10:42698398-42698640	HepG2	liver:	n/a	n/a
38	FOSL2	chr10:42711095-42711424	HepG2	liver:	n/a	n/a
39	FOSL2	chr10:42691042-42691297	HepG2	liver:	n/a	n/a
40	FOSL2	chr10:42701151-42701623	HepG2	liver:	n/a	n/a
41	FOSL2	chr10:42707177-42707505	HepG2	liver:	n/a	n/a
42	FOSL2	chr10:42697582-42697871	HepG2	liver:	n/a	n/a
43	FOSL2	chr10:42694664-42694878	HepG2	liver:	n/a	n/a
44	FOSL2	chr10:42688819-42689141	HepG2	liver:	n/a	n/a
45	FOSL2	chr10:42712235-42713112	HepG2	liver:	n/a	chr10:42712948-42712956 chr10:42712946-42712958 chr10:42712947-42712957 chr10:42712947-42712957
46	FOSL2	chr10:42712582-42713199	HepG2	liver:	n/a	chr10:42712948-42712956 chr10:42712946-42712958 chr10:42712947-42712957 chr10:42712947-42712957
47	FOSL2	chr10:42705599-42706109	HepG2	liver:	n/a	chr10:42705842-42705850 chr10:42705841-42705851 chr10:42705839-42705850 chr10:42705841-42705851 chr10:42705841-42705851 chr10:42705842-42705849 chr10:42705842-42705850 chr10:42705841-42705851
48	FOSL2	chr10:42712179-42712561	HepG2	liver:	n/a	n/a
49	FOXA1	chr10:42699386-42699719	HepG2	liver:	n/a	n/a
50	FOXA1	chr10:42712201-42712668	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-8	chr10:42705438-42705831	NONHSAT012856
2	lnc-BMS1-9	chr10:42687963-42689514	NONHSAT012855

Variant related genes	Relation type
ENSG00000271650	TF binding region

Extended variants
information (count: 334 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79404313	chr10:42688628-42688629	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs375390396	chr10:42688650-42688651	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs56908850	chr10:42688651-42688652	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs189910339	chr10:42688666-42688667	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs570326556	chr10:42688695-42688696	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs372528391	chr10:42688717-42688718	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs549772589	chr10:42688723-42688724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs12260937	chr10:42688804-42688805	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527815776	chr10:42688864-42688865	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs566026781	chr10:42688870-42688871	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs12257517	chr10:42688911-42688912	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554723862	chr10:42688947-42688948	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs574607029	chr10:42688963-42688964	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs543523050	chr10:42688968-42688969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs189264519	chr10:42688982-42688983	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs59955462	chr10:42688983-42688984	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs530186852	chr10:42689008-42689009	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs181905150	chr10:42689030-42689031	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs559732425	chr10:42689056-42689057	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs570218130	chr10:42689072-42689073	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs542081121	chr10:42689081-42689082	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs561831415	chr10:42689125-42689126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs12253125	chr10:42689150-42689151	Inactive region	lncRNA	n/a	Overlapped CNVs	mRNA abundance
24	rs551913641	chr10:42689174-42689175	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs558856583	chr10:42689192-42689193	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs61844884	chr10:42689205-42689206	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs10450505	chr10:42689245-42689246	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs565661187	chr10:42689253-42689254	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs61844885	chr10:42689276-42689277	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs61844886	chr10:42689288-42689289	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs4603255	chr10:42689340-42689341	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs534746761	chr10:42689346-42689347	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs532831987	chr10:42689347-42689348	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs546164434	chr10:42689348-42689349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs77573451	chr10:42689399-42689400	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs147136633	chr10:42689400-42689401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs566063739	chr10:42689401-42689402	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs4609562	chr10:42689427-42689428	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs139902714	chr10:42689452-42689453	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs61844887	chr10:42689466-42689467	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs71503956	chr10:42689469-42689470	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs60422630	chr10:42689478-42689479	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs568263423	chr10:42689489-42689490	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs141752734	chr10:42689499-42689500	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs34671281	chr10:42689500-42689501	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs398013268	chr10:42689513-42689514	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs181495466	chr10:42700816-42700817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs546031898	chr10:42700825-42700826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs553086082	chr10:42700827-42700828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs11238449	chr10:42700831-42700832	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Lung cancer	18438408	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
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	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
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42712200-42712400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:42712200-42712800	Enhancers	HepG2	liver
3	chr10:42712400-42712800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:42712400-42712800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:42712400-42712800	Enhancers	Adipose Nuclei	Adipose
6	chr10:42712400-42712800	Enhancers	Aorta	Aorta
7	chr10:42712400-42712800	Enhancers	Hela-S3	cervix

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