Variant report

Variant	esv3414301
Chromosome Location	chr10:42649167-42650895
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:129)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:129 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42648710-42649578	GM12878	blood:	n/a	n/a
2	BATF	chr10:42650381-42650675	GM12878	blood:	n/a	chr10:42650535-42650546
3	BATF	chr10:42650167-42650682	GM12878	blood:	n/a	chr10:42650535-42650546
4	BATF	chr10:42648769-42649302	GM12878	blood:	n/a	n/a
5	BCL11A	chr10:42650006-42650744	GM12878	blood:	n/a	n/a
6	BCL11A	chr10:42650057-42650664	GM12878	blood:	n/a	n/a
7	BCL11A	chr10:42648959-42649302	GM12878	blood:	n/a	n/a
8	BCL11A	chr10:42648740-42649373	GM12878	blood:	n/a	n/a
9	BHLHE40	chr10:42649382-42649598	HepG2	liver:	n/a	n/a
10	BHLHE40	chr10:42650564-42650834	HepG2	liver:	n/a	n/a
11	EBF1	chr10:42650364-42650669	GM12878	blood:	n/a	n/a
12	EBF1	chr10:42648616-42649692	GM12878	blood:	n/a	n/a
13	EBF1	chr10:42650029-42650689	GM12878	blood:	n/a	n/a
14	EP300	chr10:42649401-42649798	GM12878	blood:	n/a	n/a
15	EP300	chr10:42650171-42650647	GM12878	blood:	n/a	n/a
16	EP300	chr10:42648098-42649428	GM12878	blood:	n/a	n/a
17	EP300	chr10:42648764-42649350	GM12878	blood:	n/a	n/a
18	EP300	chr10:42650000-42650759	GM12878	blood:	n/a	n/a
19	FOSL2	chr10:42648103-42649443	HepG2	liver:	n/a	chr10:42648422-42648434
20	FOSL2	chr10:42648124-42649334	HepG2	liver:	n/a	chr10:42648422-42648434
21	FOSL2	chr10:42650027-42650796	HepG2	liver:	n/a	chr10:42650228-42650239
22	FOSL2	chr10:42650269-42650687	HepG2	liver:	n/a	n/a
23	FOXA1	chr10:42648061-42649396	HepG2	liver:	n/a	n/a
24	FOXA1	chr10:42650010-42650498	HepG2	liver:	n/a	n/a
25	GABPA	chr10:42649105-42649242	Hela-S3	cervix:	n/a	n/a
26	GABPA	chr10:42648113-42649577	Hela-S3	cervix:	n/a	n/a
27	GABPA	chr10:42650073-42650746	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr10:42650406-42650676	Hela-S3	cervix:	n/a	n/a
29	GATA2	chr10:42648818-42649257	K562	blood:	n/a	n/a
30	GATA2	chr10:42649377-42649626	K562	blood:	n/a	n/a
31	GATA2	chr10:42650030-42650687	K562	blood:	n/a	n/a
32	HEY1	chr10:42650138-42650678	K562	blood:	n/a	n/a
33	HEY1	chr10:42648086-42649251	K562	blood:	n/a	n/a
34	HEY1	chr10:42649095-42649255	HepG2	liver:	n/a	n/a
35	HEY1	chr10:42650501-42650629	HepG2	liver:	n/a	n/a
36	IRF4	chr10:42650124-42650693	GM12878	blood:	n/a	n/a
37	IRF4	chr10:42648092-42649524	GM12878	blood:	n/a	n/a
38	IRF4	chr10:42648648-42649443	GM12878	blood:	n/a	n/a
39	IRF4	chr10:42649954-42650760	GM12878	blood:	n/a	n/a
40	JUND	chr10:42648678-42649377	HepG2	liver:	n/a	n/a
41	JUND	chr10:42650396-42650652	HepG2	liver:	n/a	n/a
42	JUND	chr10:42650410-42650644	HepG2	liver:	n/a	n/a
43	PAX5	chr10:42650421-42650650	GM12878	blood:	n/a	n/a
44	PAX5	chr10:42650007-42650337	GM12878	blood:	n/a	n/a
45	PAX5	chr10:42650378-42650680	GM12878	blood:	n/a	n/a
46	PAX5	chr10:42650353-42650680	GM12878	blood:	n/a	n/a
47	PAX5	chr10:42649928-42650798	GM12878	blood:	n/a	n/a
48	PAX5	chr10:42650224-42650384	GM12878	blood:	n/a	n/a
49	PAX5	chr10:42648706-42649279	GM12878	blood:	n/a	n/a
50	PAX5	chr10:42648099-42649471	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42649823-42649873	AG04449	skin:	fetal
2	chr10:42649823-42649873	T-47D	breast:	n/a
3	chr10:42649823-42649873	NH-A	brain:	n/a
4	chr10:42649823-42649873	LNCaP	prostate:	n/a
5	chr10:42649823-42649873	HRPEpiC	eye:	n/a
6	chr10:42649823-42649873	GM12892	blood:	n/a
7	chr10:42649823-42649873	PFSK-1	brain:	n/a
8	chr10:42649823-42649873	MCF10A-Er-Src	breast:	n/a
9	chr10:42649823-42649873	RPTEC	kidney:	n/a
10	chr10:42649823-42649873	GM06990	blood:	n/a
11	chr10:42649823-42649873	HepG2	liver:	n/a
12	chr10:42649823-42649873	PANC-1	pancreas:	n/a
13	chr10:42649823-42649873	SKMC	muscle:	n/a
14	chr10:42649823-42649873	MCF-7	breast:	n/a
15	chr10:42649823-42649873	HL-60	blood:	n/a
16	chr10:42649823-42649873	HCPEpiC	choroid plexus:	n/a
17	chr10:42649823-42649873	ECC-1	luminal epithelium:	n/a
18	chr10:42649823-42649873	HIPEpiC	eye:	n/a
19	chr10:42649823-42649873	HUVEC	blood vessel:	n/a
20	chr10:42649823-42649873	HRE	kidney:	n/a
21	chr10:42649823-42649873	NHBE	bronchial:	n/a
22	chr10:42649823-42649873	HEEpiC	esophagus:	n/a
23	chr10:42649823-42649873	HMEC	breast:	n/a
24	chr10:42649823-42649873	AoSMC	blood vessel:	n/a
25	chr10:42649823-42649873	SK-N-SH_RA	brain:	n/a
26	chr10:42649823-42649873	HEK293	kidney:	embryo
27	chr10:42649823-42649873	SK-N-SH	brain:	n/a
28	chr10:42649823-42649873	Caco-2	colon:	n/a
29	chr10:42649823-42649873	H1-hESC	embryonic stem cell:	embryo
30	chr10:42649823-42649873	GM12891	blood:	n/a
31	chr10:42649823-42649873	K562	blood:	n/a
32	chr10:42649823-42649873	NB4	blood:	n/a
33	chr10:42649823-42649873	HCM	heart:	n/a
34	chr10:42649823-42649873	AG09319	gingival:	n/a
35	chr10:42649823-42649873	BJ	skin:	n/a
36	chr10:42649823-42649873	U87	brain:	n/a
37	chr10:42649823-42649873	BE2_C	brain:	n/a
38	chr10:42649823-42649873	AG10803	skin:	n/a
39	chr10:42649823-42649873	HRCEpiC	kidney:	n/a
40	chr10:42649823-42649873	ProgFib	skin:	n/a
41	chr10:42649823-42649873	AG09309	skin:	n/a
42	chr10:42649823-42649873	HCT-116	colon:	n/a
43	chr10:42649823-42649873	A549	lung:	n/a
44	chr10:42649823-42649873	Hepatocyte	liver:	n/a
45	chr10:42649823-42649873	HCF	heart:	n/a
46	chr10:42649823-42649873	IMR90	lung:	fetal
47	chr10:42649823-42649873	Hela-S3	cervix:	n/a
48	chr10:42649823-42649873	AG04450	lung:	fetal
49	chr10:42649823-42649873	PrEC	prostate:	n/a
50	chr10:42649823-42649873	GM12878	blood:	n/a

No data

Variant related genes	Relation type
KSR1P1	TF binding region
KSR1P1	CpG island

Extended variants
information (count: 209 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554471892	chr10:42649167-42649168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs147160313	chr10:42649175-42649176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs112284894	chr10:42649176-42649177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111691627	chr10:42649190-42649191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs371359158	chr10:42649194-42649195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs77867703	chr10:42649195-42649196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs568285123	chr10:42649205-42649206	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs376055525	chr10:42649206-42649207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs4579888	chr10:42649214-42649215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371442897	chr10:42649215-42649216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs536833038	chr10:42649218-42649219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs77436416	chr10:42649219-42649220	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs12161664	chr10:42649221-42649222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs556665942	chr10:42649240-42649241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs368317068	chr10:42649253-42649254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs576501950	chr10:42649262-42649263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs74874482	chr10:42649269-42649270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs113512789	chr10:42649279-42649280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs75133732	chr10:42649282-42649283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs545407755	chr10:42649284-42649285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs74907326	chr10:42649285-42649286	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs372370476	chr10:42649302-42649303	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs371599002	chr10:42649303-42649304	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs79295935	chr10:42649309-42649310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs10444174	chr10:42649311-42649312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs572651423	chr10:42649321-42649322	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs4418753	chr10:42649331-42649332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs4526730	chr10:42649347-42649348	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs541755415	chr10:42649368-42649369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs4453189	chr10:42649375-42649376	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs35291316	chr10:42649395-42649396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs561415844	chr10:42649400-42649401	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530354209	chr10:42649404-42649405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs4350322	chr10:42649422-42649423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs75772473	chr10:42649433-42649434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544012555	chr10:42649442-42649443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs113758825	chr10:42649445-42649446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs113581872	chr10:42649449-42649450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs563797513	chr10:42649453-42649454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs4561155	chr10:42649457-42649458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs201993805	chr10:42649458-42649459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs79256790	chr10:42649461-42649462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs4561158	chr10:42649471-42649472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs374370379	chr10:42649477-42649478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs552299801	chr10:42649487-42649488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs75866223	chr10:42649488-42649489	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs199646050	chr10:42649494-42649495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs61847219	chr10:42649500-42649501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs61847220	chr10:42649508-42649509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs528465369	chr10:42649525-42649526	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42649600-42651200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:42650800-42651000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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