Variant report

Variant	esv2617490
Chromosome Location	chr10:42649214-42649214
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	chr10:42648769-42649302	GM12878	blood:	n/a	n/a
2	BATF	chr10:42648710-42649578	GM12878	blood:	n/a	n/a
3	BCL11A	chr10:42648959-42649302	GM12878	blood:	n/a	n/a
4	BCL11A	chr10:42648740-42649373	GM12878	blood:	n/a	n/a
5	EBF1	chr10:42648616-42649692	GM12878	blood:	n/a	n/a
6	EP300	chr10:42648098-42649428	GM12878	blood:	n/a	n/a
7	EP300	chr10:42648764-42649350	GM12878	blood:	n/a	n/a
8	FOSL2	chr10:42648124-42649334	HepG2	liver:	n/a	chr10:42648422-42648434
9	FOSL2	chr10:42648103-42649443	HepG2	liver:	n/a	chr10:42648422-42648434
10	FOXA1	chr10:42648061-42649396	HepG2	liver:	n/a	n/a
11	GABPA	chr10:42649105-42649242	Hela-S3	cervix:	n/a	n/a
12	GABPA	chr10:42648113-42649577	Hela-S3	cervix:	n/a	n/a
13	GATA2	chr10:42648818-42649257	K562	blood:	n/a	n/a
14	HEY1	chr10:42648086-42649251	K562	blood:	n/a	n/a
15	HEY1	chr10:42649095-42649255	HepG2	liver:	n/a	n/a
16	IRF4	chr10:42648648-42649443	GM12878	blood:	n/a	n/a
17	IRF4	chr10:42648092-42649524	GM12878	blood:	n/a	n/a
18	JUND	chr10:42648678-42649377	HepG2	liver:	n/a	n/a
19	PAX5	chr10:42648099-42649471	GM12878	blood:	n/a	n/a
20	PAX5	chr10:42648706-42649279	GM12878	blood:	n/a	n/a
21	PBX3	chr10:42649023-42649348	GM12878	blood:	n/a	n/a
22	POLR2A	chr10:42649027-42649292	Hela-S3	cervix:	n/a	n/a
23	POU2F2	chr10:42648081-42649704	GM12878	blood:	n/a	chr10:42649339-42649349
24	RXRA	chr10:42648114-42649786	HepG2	liver:	n/a	n/a
25	RXRA	chr10:42648953-42649418	HepG2	liver:	n/a	n/a
26	SIN3AK20	chr10:42648415-42649566	HepG2	liver:	n/a	n/a
27	SIN3AK20	chr10:42648751-42649272	HepG2	liver:	n/a	n/a
28	SIX5	chr10:42648815-42649856	GM12878	blood:	n/a	chr10:42649296-42649310
29	SIX5	chr10:42648108-42649597	K562	blood:	n/a	chr10:42649296-42649310
30	SIX5	chr10:42648111-42649575	K562	blood:	n/a	chr10:42649296-42649310
31	SP1	chr10:42648143-42650993	GM12878	blood:	n/a	chr10:42650169-42650176
32	SP1	chr10:42649134-42649290	HepG2	liver:	n/a	n/a
33	SP1	chr10:42648070-42649674	HepG2	liver:	n/a	n/a
34	SP1	chr10:42648790-42649389	GM12878	blood:	n/a	n/a
35	SPI1	chr10:42648624-42649347	GM12878	blood:	n/a	n/a
36	TAF1	chr10:42649116-42649369	Hela-S3	cervix:	n/a	n/a
37	TAF1	chr10:42648688-42649356	Hela-S3	cervix:	n/a	n/a
38	TCF12	chr10:42648700-42649341	GM12878	blood:	n/a	chr10:42649328-42649335
39	TCF12	chr10:42648763-42649368	HepG2	liver:	n/a	chr10:42649328-42649335
40	TCF3	chr10:42648749-42649662	GM12878	blood:	n/a	n/a
41	USF1	chr10:42648410-42649250	GM12878	blood:	n/a	n/a
42	USF1	chr10:42648637-42649300	HepG2	liver:	n/a	n/a
43	USF1	chr10:42648973-42649296	HepG2	liver:	n/a	n/a
44	ZBTB33	chr10:42648123-42649364	GM12878	blood:	n/a	n/a
45	ZBTB33	chr10:42648723-42649339	HepG2	liver:	n/a	n/a
46	ZBTB33	chr10:42648125-42649624	HepG2	liver:	n/a	n/a
47	ZBTB33	chr10:42648113-42649443	GM12878	blood:	n/a	n/a
48	ZBTB33	chr10:42648107-42649423	K562	blood:	n/a	n/a
49	ZBTB33	chr10:42648087-42649677	K562	blood:	n/a	n/a

Variant related genes	Relation type
KSR1P1	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 55 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4579888	chr10:42649214-42649215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

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

No data

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

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