Variant report

Variant	esv3399257
Chromosome Location	chr10:42680300-42687747
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	chr10:42683465-42683803	GM12878	blood:	n/a	n/a
2	BATF	chr10:42684802-42685128	GM12878	blood:	n/a	n/a
3	BATF	chr10:42684889-42685225	GM12878	blood:	n/a	n/a
4	BATF	chr10:42684572-42684848	GM12878	blood:	n/a	n/a
5	BATF	chr10:42681006-42681427	GM12878	blood:	n/a	n/a
6	BATF	chr10:42681054-42681429	GM12878	blood:	n/a	n/a
7	BATF	chr10:42683418-42684038	GM12878	blood:	n/a	n/a
8	BCL11A	chr10:42682187-42682422	GM12878	blood:	n/a	n/a
9	BCL11A	chr10:42681257-42681446	GM12878	blood:	n/a	n/a
10	BCL11A	chr10:42680920-42681123	GM12878	blood:	n/a	n/a
11	BCL11A	chr10:42684825-42685022	GM12878	blood:	n/a	n/a
12	BCL11A	chr10:42683453-42683798	GM12878	blood:	n/a	n/a
13	BCL11A	chr10:42684721-42685144	GM12878	blood:	n/a	n/a
14	BCL11A	chr10:42681018-42681251	GM12878	blood:	n/a	n/a
15	BHLHE40	chr10:42684973-42685189	HepG2	liver:	n/a	n/a
16	CTCF	chr10:42687685-42687709	LNCaP	prostate:	n/a	n/a
17	CTCF	chr10:42687480-42687630	NHLF	lung:	n/a	n/a
18	CTCF	chr10:42687580-42687730	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr10:42684368-42684433	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr10:42687420-42687570	HEK293	kidney:	n/a	n/a
21	EBF1	chr10:42684812-42685126	GM12878	blood:	n/a	n/a
22	EBF1	chr10:42681243-42681627	GM12878	blood:	n/a	n/a
23	EBF1	chr10:42683523-42683922	GM12878	blood:	n/a	n/a
24	EBF1	chr10:42681742-42681974	GM12878	blood:	n/a	n/a
25	EBF1	chr10:42682967-42683208	GM12878	blood:	n/a	n/a
26	EBF1	chr10:42684175-42684389	GM12878	blood:	n/a	n/a
27	EBF1	chr10:42683591-42683922	GM12878	blood:	n/a	n/a
28	EBF1	chr10:42684552-42684747	GM12878	blood:	n/a	n/a
29	EBF1	chr10:42681063-42681306	GM12878	blood:	n/a	n/a
30	EP300	chr10:42683173-42683959	GM12878	blood:	n/a	n/a
31	EP300	chr10:42680454-42681875	GM12878	blood:	n/a	chr10:42681470-42681484
32	EP300	chr10:42680550-42680726	GM12878	blood:	n/a	n/a
33	EP300	chr10:42684541-42685308	GM12878	blood:	n/a	n/a
34	EP300	chr10:42686955-42687269	GM12878	blood:	n/a	n/a
35	EP300	chr10:42681000-42681186	GM12878	blood:	n/a	n/a
36	FOSL2	chr10:42682045-42682351	HepG2	liver:	n/a	chr10:42682195-42682206
37	FOSL2	chr10:42684452-42685316	HepG2	liver:	n/a	n/a
38	FOSL2	chr10:42680474-42680955	HepG2	liver:	n/a	chr10:42680528-42680537 chr10:42680735-42680746
39	FOSL2	chr10:42683010-42683225	HepG2	liver:	n/a	n/a
40	FOSL2	chr10:42682853-42683275	HepG2	liver:	n/a	n/a
41	FOSL2	chr10:42684512-42685203	HepG2	liver:	n/a	n/a
42	FOSL2	chr10:42680730-42681032	HepG2	liver:	n/a	chr10:42680735-42680746
43	FOSL2	chr10:42683366-42683998	HepG2	liver:	n/a	chr10:42683640-42683651 chr10:42683585-42683596
44	FOSL2	chr10:42680966-42681350	HepG2	liver:	n/a	n/a
45	FOSL2	chr10:42683340-42683867	HepG2	liver:	n/a	chr10:42683640-42683651 chr10:42683585-42683596
46	FOXA1	chr10:42681015-42681341	HepG2	liver:	n/a	n/a
47	FOXA1	chr10:42683472-42683855	HepG2	liver:	n/a	n/a
48	FOXA2	chr10:42683336-42683894	A549	lung:	n/a	n/a
49	GABPA	chr10:42684551-42684929	Hela-S3	cervix:	n/a	n/a
50	GABPA	chr10:42683085-42683250	Hela-S3	cervix:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-9	chr10:42686975-42687136	NONHSAT012855

Variant related genes	Relation type
IGKV1OR10-1	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535708936	chr10:42680454-42680455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs549594774	chr10:42680455-42680456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs75970074	chr10:42680466-42680467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs569402484	chr10:42680489-42680490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs9664027	chr10:42680504-42680505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs538326236	chr10:42680508-42680509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs73251718	chr10:42680520-42680521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs558195144	chr10:42680524-42680525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577927733	chr10:42680530-42680531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs10751396	chr10:42680568-42680569	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs553740677	chr10:42680575-42680576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs573871089	chr10:42680604-42680605	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs9971230	chr10:42680605-42680606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs9971231	chr10:42680622-42680623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs542463059	chr10:42680627-42680628	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs79427939	chr10:42680635-42680636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs562324205	chr10:42680663-42680664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs9971182	chr10:42680669-42680670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs9971232	chr10:42680673-42680674	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs575767428	chr10:42680674-42680675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs76631038	chr10:42680691-42680692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs9971200	chr10:42680708-42680709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs4345917	chr10:42680722-42680723	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs527247086	chr10:42680739-42680740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs4617540	chr10:42680745-42680746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs58564410	chr10:42680756-42680757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs4506596	chr10:42680768-42680769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs9971253	chr10:42680774-42680775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs78473109	chr10:42687055-42687056	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs572040421	chr10:42687061-42687062	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs534628163	chr10:42687072-42687073	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs554587981	chr10:42687073-42687074	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs117750073	chr10:42687095-42687096	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs184925088	chr10:42687096-42687097	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs543314426	chr10:42687135-42687136	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links