Variant report

Variant	esv3497431
Chromosome Location	chr10:42609334-42647086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:480)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42611560-42611800	GM12878	blood:	n/a	n/a
2	BATF	chr10:42611063-42611437	GM12878	blood:	n/a	n/a
3	BATF	chr10:42611144-42611526	GM12878	blood:	n/a	n/a
4	BATF	chr10:42612767-42613144	GM12878	blood:	n/a	n/a
5	BATF	chr10:42610777-42611041	GM12878	blood:	n/a	n/a
6	BATF	chr10:42643179-42643456	GM12878	blood:	n/a	n/a
7	BATF	chr10:42610545-42610776	GM12878	blood:	n/a	n/a
8	BATF	chr10:42643277-42643477	GM12878	blood:	n/a	n/a
9	BATF	chr10:42610090-42610374	GM12878	blood:	n/a	n/a
10	BATF	chr10:42614232-42614528	GM12878	blood:	n/a	n/a
11	BATF	chr10:42614296-42614594	GM12878	blood:	n/a	n/a
12	BCL11A	chr10:42614300-42614515	GM12878	blood:	n/a	n/a
13	BCL11A	chr10:42614236-42614524	GM12878	blood:	n/a	n/a
14	BCL11A	chr10:42612765-42613115	GM12878	blood:	n/a	n/a
15	BCL11A	chr10:42612561-42612758	GM12878	blood:	n/a	n/a
16	BCL11A	chr10:42611136-42611522	GM12878	blood:	n/a	n/a
17	BCL11A	chr10:42611244-42611474	GM12878	blood:	n/a	n/a
18	BCL11A	chr10:42647046-42647301	GM12878	blood:	n/a	n/a
19	BCL11A	chr10:42610547-42611235	GM12878	blood:	n/a	n/a
20	BCL11A	chr10:42610842-42611038	GM12878	blood:	n/a	n/a
21	BCL11A	chr10:42612506-42613155	GM12878	blood:	n/a	n/a
22	BCL11A	chr10:42641003-42641194	GM12878	blood:	n/a	n/a
23	BHLHE40	chr10:42613143-42613395	HepG2	liver:	n/a	n/a
24	BHLHE40	chr10:42612899-42613141	HepG2	liver:	n/a	n/a
25	CEBPB	chr10:42641534-42642046	A549	lung:	n/a	chr10:42641770-42641781 chr10:42641856-42641867
26	CEBPB	chr10:42641534-42642046	HepG2	liver:	n/a	chr10:42641770-42641781 chr10:42641856-42641867
27	CEBPB	chr10:42641657-42641971	IMR90	lung:	n/a	chr10:42641770-42641781 chr10:42641856-42641867
28	CTCF	chr10:42643580-42643730	GM12871	blood:	n/a	n/a
29	CTCF	chr10:42640780-42640930	GM12869	blood:	n/a	n/a
30	CTCF	chr10:42632340-42632490	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr10:42640740-42640890	GM12864	blood:	n/a	n/a
32	CTCF	chr10:42640740-42640890	HAc	cerebellar:	n/a	n/a
33	CTCF	chr10:42621161-42621206	GM13976	blood:	n/a	n/a
34	CTCF	chr10:42640700-42640850	GM12875	blood:	n/a	n/a
35	CTCF	chr10:42640720-42640870	GM12868	blood:	n/a	n/a
36	CTCF	chr10:42641120-42641270	HMEC	breast:	n/a	n/a
37	EBF1	chr10:42610572-42610776	GM12878	blood:	n/a	n/a
38	EBF1	chr10:42612307-42612504	GM12878	blood:	n/a	n/a
39	EBF1	chr10:42611140-42611404	GM12878	blood:	n/a	n/a
40	EBF1	chr10:42612632-42612789	GM12878	blood:	n/a	n/a
41	EBF1	chr10:42646996-42647288	GM12878	blood:	n/a	n/a
42	EBF1	chr10:42610556-42610957	GM12878	blood:	n/a	n/a
43	EBF1	chr10:42612831-42613144	GM12878	blood:	n/a	n/a
44	EBF1	chr10:42612815-42613172	GM12878	blood:	n/a	n/a
45	EBF1	chr10:42614227-42614524	GM12878	blood:	n/a	n/a
46	EBF1	chr10:42632298-42632581	GM12878	blood:	n/a	n/a
47	EBF1	chr10:42610990-42611485	GM12878	blood:	n/a	n/a
48	EBF1	chr10:42611803-42612050	GM12878	blood:	n/a	n/a
49	ELF1	chr10:42645170-42645537	GM12878	blood:	n/a	n/a
50	EP300	chr10:42624178-42624582	GM12878	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42646111-42646161	SK-N-SH	brain:	n/a
2	chr10:42633181-42633231	NT2-D1	testis:	n/a
3	chr10:42641430-42641480	HEK293	kidney:	embryo
4	chr10:42633559-42633609	HUVEC	blood vessel:	n/a
5	chr10:42645466-42645516	Jurkat	blood:	n/a
6	chr10:42642959-42643009	A549	lung:	n/a
7	chr10:42633181-42633231	AG04450	lung:	fetal
8	chr10:42644887-42644937	HRPEpiC	eye:	n/a
9	chr10:42633181-42633231	K562	blood:	n/a
10	chr10:42644887-42644937	ProgFib	skin:	n/a
11	chr10:42645466-42645516	HepG2	liver:	n/a
12	chr10:42644887-42644937	HEEpiC	esophagus:	n/a
13	chr10:42644887-42644937	GM12892	blood:	n/a
14	chr10:42646111-42646161	NHDF-neo	bronchial:	n/a
15	chr10:42642959-42643009	PANC-1	pancreas:	n/a
16	chr10:42633559-42633609	Hela-S3	cervix:	n/a
17	chr10:42645466-42645516	H1-hESC	embryonic stem cell:	embryo
18	chr10:42646111-42646161	RPTEC	kidney:	n/a
19	chr10:42633559-42633609	H1-hESC	embryonic stem cell:	embryo
20	chr10:42633559-42633609	HCF	heart:	n/a
21	chr10:42633559-42633609	RPTEC	kidney:	n/a
22	chr10:42644887-42644937	Caco-2	colon:	n/a
23	chr10:42633559-42633609	NHBE	bronchial:	n/a
24	chr10:42646111-42646161	A549	lung:	n/a
25	chr10:42633559-42633609	Jurkat	blood:	n/a
26	chr10:42633559-42633609	PrEC	prostate:	n/a
27	chr10:42645466-42645516	HEK293	kidney:	embryo
28	chr10:42633181-42633231	HIPEpiC	eye:	n/a
29	chr10:42646111-42646161	HEEpiC	esophagus:	n/a
30	chr10:42644887-42644937	SK-N-SH	brain:	n/a
31	chr10:42633559-42633609	LNCaP	prostate:	n/a
32	chr10:42641430-42641480	HUVEC	blood vessel:	n/a
33	chr10:42633559-42633609	AG04450	lung:	fetal
34	chr10:42641430-42641480	SKMC	muscle:	n/a
35	chr10:42644887-42644937	GM12878	blood:	n/a
36	chr10:42645466-42645516	BE2_C	brain:	n/a
37	chr10:42641430-42641480	ProgFib	skin:	n/a
38	chr10:42633181-42633231	GM12892	blood:	n/a
39	chr10:42646111-42646161	HepG2	liver:	n/a
40	chr10:42633181-42633231	HCPEpiC	choroid plexus:	n/a
41	chr10:42644887-42644937	HUVEC	blood vessel:	n/a
42	chr10:42633181-42633231	HCM	heart:	n/a
43	chr10:42646111-42646161	BE2_C	brain:	n/a
44	chr10:42644887-42644937	T-47D	breast:	n/a
45	chr10:42645466-42645516	HCF	heart:	n/a
46	chr10:42633181-42633231	HPAEpiC	pulmonary alveolar:	n/a
47	chr10:42642959-42643009	HEK293	kidney:	embryo
48	chr10:42644887-42644937	HRCEpiC	kidney:	n/a
49	chr10:42641430-42641480	H1-hESC	embryonic stem cell:	embryo
50	chr10:42645466-42645516	NT2-D1	testis:	n/a

No data

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

Extended variants
information (count: 1166 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1166 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536899909	chr10:42614413-42614414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs372218674	chr10:42614417-42614418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200002395	chr10:42614422-42614423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556912222	chr10:42614429-42614430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs113152150	chr10:42614430-42614431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs576552478	chr10:42614434-42614435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs199687357	chr10:42614435-42614436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs78774136	chr10:42614443-42614444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs371298429	chr10:42614445-42614446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs77876495	chr10:42614464-42614465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191169066	chr10:42614467-42614468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572489212	chr10:42614472-42614473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs541026249	chr10:42614476-42614477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs200048897	chr10:42614483-42614484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs560903639	chr10:42614489-42614490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs75272629	chr10:42614491-42614492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs75150111	chr10:42614498-42614499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs574504914	chr10:42614501-42614502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs543276512	chr10:42614505-42614506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs75012004	chr10:42614508-42614509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs563454191	chr10:42614521-42614522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs542355554	chr10:42614523-42614524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs28407966	chr10:42614538-42614539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78791704	chr10:42614539-42614540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs559387753	chr10:42614553-42614554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs4509708	chr10:42614561-42614562	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs77985082	chr10:42614572-42614573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs34239581	chr10:42614589-42614590	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79618615	chr10:42614591-42614592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs568018497	chr10:42614608-42614609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs537065668	chr10:42614610-42614611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs375455840	chr10:42614612-42614613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs76701867	chr10:42614613-42614614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs369699630	chr10:42614643-42614644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs76857345	chr10:42614644-42614645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112803207	chr10:42614661-42614662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs558934223	chr10:42614662-42614663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs572606569	chr10:42614665-42614666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534756886	chr10:42614667-42614668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs78155731	chr10:42614668-42614669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs554656229	chr10:42614678-42614679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs28592910	chr10:42614687-42614688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs543438096	chr10:42614690-42614691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs11238769	chr10:42614691-42614692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs577102324	chr10:42614692-42614693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs368522098	chr10:42614700-42614701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs373538124	chr10:42614713-42614714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs78326833	chr10:42614741-42614742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs79323211	chr10:42614758-42614759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559236185	chr10:42614762-42614763	ZNF genes & repeats	n/a	n/a	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
small cell lung cancer	20016488	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42614400-42614800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr10:42638400-42638800	Active TSS	Fetal Heart	heart
3	chr10:42639400-42639600	Weak transcription	Fetal Heart	heart
4	chr10:42640000-42644600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr10:42640200-42640800	Active TSS	Fetal Heart	heart
6	chr10:42640400-42641800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr10:42640400-42642400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:42640400-42644800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr10:42640600-42641000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr10:42640600-42641200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:42640600-42641200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr10:42640600-42641200	ZNF genes & repeats	Lung	lung
13	chr10:42640600-42641200	ZNF genes & repeats	Pancreas	Pancrea
14	chr10:42640600-42641400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:42640600-42641400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:42640600-42641600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:42640600-42646400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:42640800-42641400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr10:42640800-42641400	ZNF genes & repeats	Gastric	stomach
20	chr10:42640800-42641800	Weak transcription	Fetal Heart	heart
21	chr10:42641000-42645400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr10:42641600-42643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:42641800-42642200	Active TSS	Fetal Heart	heart
24	chr10:42643400-42645200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:42643400-42645800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr10:42643600-42645000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr10:42643600-42645200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr10:42643600-42646000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:42643600-42646000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:42643600-42646200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:42643800-42646400	ZNF genes & repeats	Fetal Stomach	stomach
32	chr10:42644000-42645400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr10:42644000-42646000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:42644000-42646600	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr10:42644200-42644600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
36	chr10:42644200-42644800	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr10:42644200-42645200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
38	chr10:42644200-42645400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr10:42644200-42645600	ZNF genes & repeats	Thymus	Thymus
40	chr10:42644200-42646000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr10:42644200-42646200	ZNF genes & repeats	Lung	lung
42	chr10:42644200-42646400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:42644400-42645400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr10:42644400-42645600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr10:42644400-42645800	ZNF genes & repeats	Colonic Mucosa	Colon
46	chr10:42644400-42645800	ZNF genes & repeats	Spleen	Spleen
47	chr10:42644400-42646600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:42644400-42646600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
49	chr10:42644400-42646600	ZNF genes & repeats	Pancreas	Pancrea
50	chr10:42644600-42645800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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