Variant report

Variant	esv3369778
Chromosome Location	chr10:42715168-42739271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:427)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42734245-42734464	GM12878	blood:	n/a	n/a
2	BCL11A	chr10:42738846-42739017	GM12878	blood:	n/a	n/a
3	BCL11A	chr10:42734310-42734513	GM12878	blood:	n/a	n/a
4	CTCF	chr10:42738192-42738227	GM13976	blood:	n/a	n/a
5	CTCF	chr10:42728616-42728667	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr10:42715167-42715245	Lung_OC	lung:	n/a	n/a
7	CTCF	chr10:42735572-42735624	GM10248	blood:	n/a	n/a
8	E2F6	chr10:42738080-42738316	K562	blood:	n/a	n/a
9	E2F6	chr10:42738671-42738830	K562	blood:	n/a	n/a
10	EP300	chr10:42735325-42735602	GM12878	blood:	n/a	n/a
11	EP300	chr10:42728422-42728691	GM12878	blood:	n/a	n/a
12	EP300	chr10:42734289-42734554	GM12878	blood:	n/a	n/a
13	FOSL2	chr10:42734198-42734547	HepG2	liver:	n/a	n/a
14	FOSL2	chr10:42728425-42728846	HepG2	liver:	n/a	n/a
15	GABPA	chr10:42737010-42737146	Hela-S3	cervix:	n/a	n/a
16	GABPA	chr10:42728463-42728840	Hela-S3	cervix:	n/a	n/a
17	GABPA	chr10:42726134-42726345	Hela-S3	cervix:	n/a	n/a
18	GATA2	chr10:42721801-42722052	K562	blood:	n/a	n/a
19	GATA2	chr10:42734261-42734565	K562	blood:	n/a	n/a
20	GATA2	chr10:42721304-42721659	K562	blood:	n/a	n/a
21	GATA2	chr10:42722708-42724145	K562	blood:	n/a	n/a
22	GATA2	chr10:42722294-42722540	K562	blood:	n/a	n/a
23	JUND	chr10:42737052-42737207	HepG2	liver:	n/a	n/a
24	JUND	chr10:42735360-42735531	HepG2	liver:	n/a	n/a
25	JUND	chr10:42737234-42737434	K562	blood:	n/a	n/a
26	JUND	chr10:42734304-42734520	HepG2	liver:	n/a	n/a
27	JUND	chr10:42738839-42738996	HepG2	liver:	n/a	n/a
28	MAX	chr10:42738041-42738298	K562	blood:	n/a	chr10:42738227-42738236 chr10:42738226-42738237 chr10:42738225-42738238
29	MAX	chr10:42737948-42738380	K562	blood:	n/a	chr10:42738227-42738236 chr10:42738226-42738237 chr10:42738225-42738238
30	MYC	chr10:42732472-42732524	MCF-7	breast:	n/a	n/a
31	PAX5	chr10:42734333-42734526	GM12878	blood:	n/a	n/a
32	PAX5	chr10:42726176-42726428	GM12878	blood:	n/a	n/a
33	PAX5	chr10:42736989-42737201	GM12878	blood:	n/a	n/a
34	PBX3	chr10:42734305-42734448	GM12878	blood:	n/a	n/a
35	PBX3	chr10:42737047-42737140	GM12878	blood:	n/a	n/a
36	PBX3	chr10:42733996-42734146	GM12878	blood:	n/a	n/a
37	POLR2A	chr10:42730003-42730193	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr10:42728872-42729008	Gliobla	brain:	n/a	n/a
39	POU2F2	chr10:42726118-42726531	GM12878	blood:	n/a	n/a
40	POU2F2	chr10:42734288-42734539	GM12878	blood:	n/a	n/a
41	POU2F2	chr10:42717797-42718055	GM12891	blood:	n/a	n/a
42	POU2F2	chr10:42728401-42728793	GM12878	blood:	n/a	n/a
43	REST	chr10:42738860-42738991	PANC-1	pancreas:	n/a	n/a
44	REST	chr10:42730078-42730565	PANC-1	pancreas:	n/a	n/a
45	RFX5	chr10:42737258-42737267	K562	blood:	n/a	n/a
46	RXRA	chr10:42734271-42734536	HepG2	liver:	n/a	n/a
47	RXRA	chr10:42733972-42734281	GM12878	blood:	n/a	n/a
48	SIX5	chr10:42736791-42737094	K562	blood:	n/a	n/a
49	SIX5	chr10:42734303-42734537	K562	blood:	n/a	n/a
50	SIX5	chr10:42736721-42737114	K562	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	chr10:42738815-42738865	HEEpiC	esophagus:	n/a
2	chr10:42738239-42738289	HCPEpiC	choroid plexus:	n/a
3	chr10:42737139-42737189	NB4	blood:	n/a
4	chr10:42739066-42739116	AG09319	gingival:	n/a
5	chr10:42737139-42737189	SK-N-MC	brain:	n/a
6	chr10:42737139-42737189	SK-N-SH_RA	brain:	n/a
7	chr10:42738538-42738588	Jurkat	blood:	n/a
8	chr10:42737139-42737189	NT2-D1	testis:	n/a
9	chr10:42738815-42738865	MCF10A-Er-Src	breast:	n/a
10	chr10:42739066-42739116	HCPEpiC	choroid plexus:	n/a
11	chr10:42738538-42738588	ProgFib	skin:	n/a
12	chr10:42737139-42737189	SK-N-SH	brain:	n/a
13	chr10:42738538-42738588	AG09309	skin:	n/a
14	chr10:42738538-42738588	SKMC	muscle:	n/a
15	chr10:42737139-42737189	GM19239	blood:	n/a
16	chr10:42737139-42737189	T-47D	breast:	n/a
17	chr10:42738239-42738289	HepG2	liver:	n/a
18	chr10:42737322-42737372	A549	lung:	n/a
19	chr10:42738538-42738588	HRCEpiC	kidney:	n/a
20	chr10:42737139-42737189	ECC-1	luminal epithelium:	n/a
21	chr10:42737322-42737372	ECC-1	luminal epithelium:	n/a
22	chr10:42737582-42737632	AG09309	skin:	n/a
23	chr10:42738538-42738588	IMR90	lung:	fetal
24	chr10:42737322-42737372	AG04450	lung:	fetal
25	chr10:42738815-42738865	Hepatocyte	liver:	n/a
26	chr10:42738538-42738588	A549	lung:	n/a
27	chr10:42738538-42738588	H1-hESC	embryonic stem cell:	embryo
28	chr10:42738815-42738865	HRE	kidney:	n/a
29	chr10:42738538-42738588	HUVEC	blood vessel:	n/a
30	chr10:42738239-42738289	Hela-S3	cervix:	n/a
31	chr10:42738538-42738588	GM12891	blood:	n/a
32	chr10:42738239-42738289	NB4	blood:	n/a
33	chr10:42737582-42737632	PFSK-1	brain:	n/a
34	chr10:42737582-42737632	HepG2	liver:	n/a
35	chr10:42738239-42738289	AG04450	lung:	fetal
36	chr10:42737139-42737189	HCPEpiC	choroid plexus:	n/a
37	chr10:42738538-42738588	HNPCEpiC	eye:	n/a
38	chr10:42737139-42737189	HCF	heart:	n/a
39	chr10:42737139-42737189	AG09309	skin:	n/a
40	chr10:42737322-42737372	MCF-7	breast:	n/a
41	chr10:42737322-42737372	LNCaP	prostate:	n/a
42	chr10:42738538-42738588	CMK	blood:	n/a
43	chr10:42738239-42738289	Caco-2	colon:	n/a
44	chr10:42739066-42739116	PrEC	prostate:	n/a
45	chr10:42738538-42738588	SK-N-MC	brain:	n/a
46	chr10:42737139-42737189	GM12878	blood:	n/a
47	chr10:42738815-42738865	AG10803	skin:	n/a
48	chr10:42737582-42737632	HMEC	breast:	n/a
49	chr10:42737139-42737189	IMR90	lung:	fetal
50	chr10:42738815-42738865	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:42739123..42739644-chr10:101379768..101380454,2	HCT-116	colon:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-7	chr10:42737930-42738014	NONHSAT012859

No data

Variant related genes	Relation type
ENSG00000264398	TF binding region
ENSG00000264398	CpG island
ENSG00000155287	chromatin interactions

Extended variants
information (count: 789 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:789 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369625273	chr10:42725600-42725601	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111788266	chr10:42725628-42725629	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9665306	chr10:42725663-42725664	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571367716	chr10:42725689-42725690	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138083139	chr10:42725701-42725702	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553716560	chr10:42725712-42725713	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188841645	chr10:42725740-42725741	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536578173	chr10:42725810-42725811	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556182793	chr10:42725811-42725812	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77396437	chr10:42725820-42725821	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545185932	chr10:42725888-42725889	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202038059	chr10:42725926-42725927	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564978133	chr10:42725935-42725936	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572140907	chr10:42725949-42725950	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541041045	chr10:42725981-42725982	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560971569	chr10:42726001-42726002	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529634137	chr10:42726040-42726041	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75302631	chr10:42726068-42726069	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77591107	chr10:42726073-42726074	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549695619	chr10:42726080-42726081	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528638130	chr10:42726091-42726092	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144338581	chr10:42726093-42726094	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377141847	chr10:42726104-42726105	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180671938	chr10:42726137-42726138	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35767676	chr10:42726145-42726146	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74230800	chr10:42726225-42726226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs372371936	chr10:42726233-42726234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571424519	chr10:42726235-42726236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs79015042	chr10:42726256-42726257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs199542962	chr10:42726272-42726273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs112283349	chr10:42726295-42726296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs202031673	chr10:42726308-42726309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs534062428	chr10:42726309-42726310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs547464659	chr10:42726313-42726314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs76043651	chr10:42726349-42726350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs78324735	chr10:42726368-42726369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs567700553	chr10:42726378-42726379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs74230801	chr10:42726404-42726405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs193082178	chr10:42726418-42726419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs536243973	chr10:42726440-42726441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs370258441	chr10:42726443-42726444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs184740018	chr10:42726469-42726470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs74947556	chr10:42726470-42726471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541839106	chr10:42726475-42726476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375123094	chr10:42726476-42726477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs538855967	chr10:42726479-42726480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs558748714	chr10:42726481-42726482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs369333752	chr10:42726496-42726497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs372739443	chr10:42726510-42726511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs572251939	chr10:42726522-42726523	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
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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42725600-42726200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:42725600-42726200	Enhancers	Pancreas	Pancrea
3	chr10:42725600-42726800	ZNF genes & repeats	Esophagus	oesophagus
4	chr10:42726200-42726800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:42726800-42728200	Weak transcription	Esophagus	oesophagus
6	chr10:42728200-42730600	Enhancers	Esophagus	oesophagus
7	chr10:42728800-42729400	ZNF genes & repeats	Spleen	Spleen
8	chr10:42728800-42730400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:42729000-42729400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:42729400-42732200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:42732200-42732400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:42732200-42732400	Enhancers	Gastric	stomach
13	chr10:42732400-42742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:42736600-42737000	Weak transcription	HSMMtube	muscle
15	chr10:42737000-42737200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
16	chr10:42737000-42737200	Active TSS	HSMM	muscle
17	chr10:42737000-42737400	Enhancers	Primary hematopoietic stem cells	blood
18	chr10:42737000-42737400	Active TSS	HMEC	breast
19	chr10:42737000-42737400	ZNF genes & repeats	HSMMtube	muscle
20	chr10:42737000-42737400	Bivalent Enhancer	NHEK	skin
21	chr10:42737000-42737600	Enhancers	Osteobl	bone
22	chr10:42737000-42738400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:42737000-42738400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:42737200-42737400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr10:42737200-42737400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr10:42737200-42737400	Enhancers	Brain Substantia Nigra	brain
27	chr10:42737200-42737400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr10:42737200-42737400	Flanking Active TSS	HSMM	muscle
29	chr10:42737200-42737400	ZNF genes & repeats	NH-A	brain
30	chr10:42737200-42737600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr10:42737200-42738200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
32	chr10:42737400-42738000	Weak transcription	HSMM	muscle
33	chr10:42737400-42739000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr10:42737600-42737800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:42737600-42737800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:42737600-42738000	Active TSS	Esophagus	oesophagus
37	chr10:42737600-42738000	Active TSS	Pancreas	Pancrea
38	chr10:42737600-42738000	Bivalent/Poised TSS	Right Ventricle	heart
39	chr10:42737600-42738000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr10:42737600-42738400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr10:42737600-42738400	Active TSS	Colon Smooth Muscle	Colon
42	chr10:42737600-42738800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:42737600-42739200	Active TSS	Ovary	ovary
44	chr10:42737800-42738000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr10:42737800-42738000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:42737800-42739200	Active TSS	Aorta	Aorta
47	chr10:42737800-42739200	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr10:42737800-42739200	Active TSS	Right Atrium	heart
49	chr10:42738000-42738200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr10:42738000-42738200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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