Variant report

Variant	esv3527081
Chromosome Location	chr10:42701240-42717120
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	chr10:42704442-42704772	GM12878	blood:	n/a	chr10:42704640-42704651
2	BATF	chr10:42704531-42704782	GM12878	blood:	n/a	chr10:42704640-42704651
3	BCL11A	chr10:42704506-42704681	GM12878	blood:	n/a	n/a
4	BCL11A	chr10:42703088-42703254	GM12878	blood:	n/a	n/a
5	BCL11A	chr10:42705685-42705867	GM12878	blood:	n/a	n/a
6	BCL11A	chr10:42704553-42704791	GM12878	blood:	n/a	n/a
7	CTCF	chr10:42715167-42715245	Lung_OC	lung:	n/a	n/a
8	CTCF	chr10:42707158-42707199	Medullo	brain:	n/a	n/a
9	CTCF	chr10:42707141-42707146	Medullo	brain:	n/a	n/a
10	EBF1	chr10:42704567-42704741	GM12878	blood:	n/a	n/a
11	EP300	chr10:42705641-42705786	GM12878	blood:	n/a	n/a
12	EP300	chr10:42707242-42707687	GM12878	blood:	n/a	n/a
13	EP300	chr10:42705401-42705917	GM12878	blood:	n/a	chr10:42705842-42705851
14	EP300	chr10:42702850-42703432	GM12878	blood:	n/a	n/a
15	EP300	chr10:42702656-42702840	GM12878	blood:	n/a	n/a
16	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
17	FOSL2	chr10:42712235-42713112	HepG2	liver:	n/a	chr10:42712948-42712956 chr10:42712946-42712958 chr10:42712947-42712957 chr10:42712947-42712957
18	FOSL2	chr10:42707034-42707684	HepG2	liver:	n/a	n/a
19	FOSL2	chr10:42712179-42712561	HepG2	liver:	n/a	n/a
20	FOSL2	chr10:42707177-42707505	HepG2	liver:	n/a	n/a
21	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
22	FOSL2	chr10:42712582-42713199	HepG2	liver:	n/a	chr10:42712948-42712956 chr10:42712946-42712958 chr10:42712947-42712957 chr10:42712947-42712957
23	FOSL2	chr10:42701151-42701623	HepG2	liver:	n/a	n/a
24	FOSL2	chr10:42711095-42711424	HepG2	liver:	n/a	n/a
25	FOXA1	chr10:42712201-42712668	HepG2	liver:	n/a	n/a
26	FOXA1	chr10:42712723-42713086	HepG2	liver:	n/a	n/a
27	FOXA2	chr10:42712300-42713169	A549	lung:	n/a	n/a
28	FOXA2	chr10:42712374-42713020	A549	lung:	n/a	n/a
29	GABPA	chr10:42702969-42703187	Hela-S3	cervix:	n/a	n/a
30	GABPA	chr10:42701649-42701772	Hela-S3	cervix:	n/a	n/a
31	GABPA	chr10:42711178-42711350	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr10:42712239-42712938	Hela-S3	cervix:	n/a	n/a
33	GABPA	chr10:42711235-42711439	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr10:42712671-42712898	Hela-S3	cervix:	n/a	n/a
35	GATA2	chr10:42712986-42713231	K562	blood:	n/a	n/a
36	HEY1	chr10:42712730-42712933	HepG2	liver:	n/a	n/a
37	IRF4	chr10:42701557-42701862	GM12878	blood:	n/a	n/a
38	IRF4	chr10:42703008-42703453	GM12878	blood:	n/a	n/a
39	IRF4	chr10:42705678-42706033	GM12878	blood:	n/a	n/a
40	IRF4	chr10:42704393-42704883	GM12878	blood:	n/a	n/a
41	IRF4	chr10:42707271-42707698	GM12878	blood:	n/a	n/a
42	IRF4	chr10:42702956-42703496	GM12878	blood:	n/a	n/a
43	IRF4	chr10:42711122-42711549	GM12878	blood:	n/a	n/a
44	JUND	chr10:42705758-42705888	HepG2	liver:	n/a	chr10:42705842-42705850 chr10:42705841-42705851 chr10:42705841-42705851 chr10:42705841-42705851 chr10:42705842-42705849 chr10:42705842-42705850 chr10:42705841-42705851
45	JUND	chr10:42712741-42712955	HepG2	liver:	n/a	n/a
46	JUND	chr10:42712594-42713065	HepG2	liver:	n/a	chr10:42712948-42712956 chr10:42712946-42712958 chr10:42712947-42712957 chr10:42712947-42712957
47	JUND	chr10:42712499-42713032	A549	lung:	n/a	chr10:42712948-42712956 chr10:42712946-42712958 chr10:42712947-42712957 chr10:42712947-42712957
48	JUND	chr10:42712206-42712453	HepG2	liver:	n/a	n/a
49	JUND	chr10:42707092-42707547	HepG2	liver:	n/a	n/a
50	JUND	chr10:42705459-42705628	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-8	chr10:42705438-42705831	NONHSAT012856

Variant related genes	Relation type
ENSG00000271650	TF binding region

Extended variants
information (count: 264 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370070725	chr10:42701241-42701242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs201222658	chr10:42701289-42701290	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs202120545	chr10:42701298-42701299	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs78341379	chr10:42701340-42701341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs374488074	chr10:42701344-42701345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs375191863	chr10:42701349-42701350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs74933149	chr10:42701350-42701351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs74991004	chr10:42701359-42701360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs9971235	chr10:42701370-42701371	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs367799187	chr10:42701379-42701380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs78900382	chr10:42701381-42701382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs77972125	chr10:42701414-42701415	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs72468174	chr10:42701419-42701420	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs373493172	chr10:42701422-42701423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs79422905	chr10:42701441-42701442	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs75614965	chr10:42701444-42701445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs9971236	chr10:42701449-42701450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs373750632	chr10:42701461-42701462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs557353259	chr10:42701469-42701470	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs75625896	chr10:42701487-42701488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs11238454	chr10:42701489-42701490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs201272310	chr10:42701515-42701516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs369895168	chr10:42701524-42701525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs552905256	chr10:42701534-42701535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs372379928	chr10:42701540-42701541	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs144898609	chr10:42701565-42701566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs9971349	chr10:42701569-42701570	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs61853392	chr10:42701573-42701574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs142009891	chr10:42701582-42701583	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs374853920	chr10:42701586-42701587	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs61853393	chr10:42701618-42701619	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs201827352	chr10:42701652-42701653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs149587899	chr10:42701661-42701662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs146509140	chr10:42701672-42701673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs573028038	chr10:42701680-42701681	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs61853394	chr10:42701686-42701687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs61061954	chr10:42701721-42701722	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs147048588	chr10:42701730-42701731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs555087781	chr10:42701763-42701764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201301344	chr10:42701767-42701768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs9971049	chr10:42701776-42701777	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs111406951	chr10:42701777-42701778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs9971333	chr10:42701778-42701779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs149517198	chr10:42701800-42701801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs9971372	chr10:42701806-42701807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs150965600	chr10:42701809-42701810	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs200822506	chr10:42701830-42701831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201844556	chr10:42701831-42701832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs72639599	chr10:42701838-42701839	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs370937270	chr10:42701839-42701840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	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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