Variant report

Variant	nsv1003845
Chromosome Location	chr4:10689262-10738618
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	ATF2	chr4:10705663-10706102	GM12878	blood:	n/a	n/a
2	ATF2	chr4:10731477-10734481	GM12878	blood:	n/a	n/a
3	ATF2	chr4:10691679-10692211	GM12878	blood:	n/a	n/a
4	ATF2	chr4:10724600-10725075	GM12878	blood:	n/a	n/a
5	ATF2	chr4:10691734-10692245	GM12878	blood:	n/a	n/a
6	ATF2	chr4:10730950-10733674	GM12878	blood:	n/a	n/a
7	ATF2	chr4:10689657-10690132	GM12878	blood:	n/a	n/a
8	ATF2	chr4:10705626-10706076	GM12878	blood:	n/a	n/a
9	ATF2	chr4:10728633-10729568	GM12878	blood:	n/a	n/a
10	ATF2	chr4:10689554-10690195	GM12878	blood:	n/a	n/a
11	ATF2	chr4:10733686-10734613	GM12878	blood:	n/a	n/a
12	BACH1	chr4:10736526-10736543	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr4:10689708-10690056	GM12878	blood:	n/a	chr4:10689900-10689911
14	BATF	chr4:10731565-10732571	GM12878	blood:	n/a	n/a
15	BATF	chr4:10705800-10706001	GM12878	blood:	n/a	chr4:10705928-10705939
16	BATF	chr4:10689724-10690095	GM12878	blood:	n/a	chr4:10689900-10689911
17	BATF	chr4:10733927-10734280	GM12878	blood:	n/a	chr4:10734076-10734087
18	BATF	chr4:10732194-10732597	GM12878	blood:	n/a	n/a
19	BATF	chr4:10731603-10732135	GM12878	blood:	n/a	n/a
20	BATF	chr4:10733818-10734308	GM12878	blood:	n/a	chr4:10734076-10734087
21	BCL11A	chr4:10689653-10690001	GM12878	blood:	n/a	chr4:10689939-10689948
22	BCL11A	chr4:10731525-10732638	GM12878	blood:	n/a	n/a
23	BCL11A	chr4:10732145-10732528	GM12878	blood:	n/a	n/a
24	BCL11A	chr4:10733816-10734325	GM12878	blood:	n/a	n/a
25	BCL11A	chr4:10705695-10705986	GM12878	blood:	n/a	chr4:10705931-10705940 chr4:10705932-10705941
26	BCL11A	chr4:10689580-10690022	GM12878	blood:	n/a	chr4:10689939-10689948
27	BCL11A	chr4:10733900-10734185	GM12878	blood:	n/a	n/a
28	BCL3	chr4:10733935-10734297	GM12878	blood:	n/a	n/a
29	BCL3	chr4:10689621-10690203	GM12878	blood:	n/a	chr4:10689939-10689948
30	BCL3	chr4:10731600-10732713	GM12878	blood:	n/a	n/a
31	BCL3	chr4:10732154-10732562	GM12878	blood:	n/a	n/a
32	BCL3	chr4:10732854-10733672	GM12878	blood:	n/a	n/a
33	BCL3	chr4:10705669-10706067	GM12878	blood:	n/a	chr4:10705931-10705940 chr4:10705932-10705941
34	BCLAF1	chr4:10689631-10690058	GM12878	blood:	n/a	chr4:10689939-10689948
35	BCLAF1	chr4:10733795-10734296	GM12878	blood:	n/a	n/a
36	BCLAF1	chr4:10731555-10732711	GM12878	blood:	n/a	n/a
37	BCLAF1	chr4:10731561-10732687	GM12878	blood:	n/a	n/a
38	BCLAF1	chr4:10733776-10734500	GM12878	blood:	n/a	n/a
39	BHLHE40	chr4:10691996-10692106	GM12878	blood:	n/a	n/a
40	BHLHE40	chr4:10690536-10691759	GM12878	blood:	n/a	n/a
41	BHLHE40	chr4:10734872-10734912	GM12878	blood:	n/a	n/a
42	BHLHE40	chr4:10736374-10736728	GM12878	blood:	n/a	n/a
43	BHLHE40	chr4:10731000-10734533	GM12878	blood:	n/a	n/a
44	CEBPB	chr4:10705579-10706206	GM12878	blood:	n/a	n/a
45	CEBPB	chr4:10733721-10734883	GM12878	blood:	n/a	n/a
46	CEBPB	chr4:10696123-10696420	IMR90	lung:	n/a	n/a
47	CEBPB	chr4:10729707-10729968	HepG2	liver:	n/a	chr4:10729899-10729910 chr4:10729850-10729861
48	CEBPB	chr4:10731681-10733118	GM12878	blood:	n/a	chr4:10732213-10732226 chr4:10732845-10732856
49	CHD1	chr4:10691960-10692183	GM12878	blood:	n/a	n/a
50	CHD1	chr4:10724857-10725057	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:10689022..10690915-chr4:10701948..10704455,2	K562	blood:
2	chr4:10731672..10733412-chr4:10734355..10736990,2	MCF-7	breast:
3	chr4:10624055..10624663-chr4:10717565..10718180,2	MCF-7	breast:
4	chr4:10731672..10733412-chr4:10734355..10736990,2	MCF-7	breast:
5	chr4:10689022..10690915-chr4:10701948..10704455,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRD5-5	chr4:10698747-10699285	XLOC_003452
2	lnc-DRD5-5	chr4:10693689-10693730	XLOC_003452
3	lnc-DRD5-5	chr4:10698747-10699189	NONHSAT095508

Variant related genes	Relation type
CLNK	TF binding region
AKT3	miRNA target sites

Extended variants
information (count: 2243 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2243 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4501214	chr4:10689262-10689263	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369218971	chr4:10689272-10689273	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553377059	chr4:10689278-10689279	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs117412335	chr4:10689287-10689288	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs4550919	chr4:10689292-10689293	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs138235862	chr4:10689315-10689316	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs73216749	chr4:10689316-10689317	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545669650	chr4:10689320-10689321	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs149503736	chr4:10689341-10689342	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs4501215	chr4:10689344-10689345	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs539862238	chr4:10689375-10689376	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs28736361	chr4:10689479-10689480	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs561310832	chr4:10689495-10689496	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573082078	chr4:10689577-10689578	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs375827272	chr4:10689599-10689600	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs540218677	chr4:10689603-10689604	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs528865327	chr4:10689616-10689617	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs144745094	chr4:10689672-10689673	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs568853245	chr4:10689703-10689704	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs561705622	chr4:10689704-10689705	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs531146231	chr4:10689745-10689746	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190439108	chr4:10689763-10689764	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs118150746	chr4:10689764-10689765	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs182632193	chr4:10689765-10689766	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs115068817	chr4:10689775-10689776	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs544276215	chr4:10689785-10689786	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs115326576	chr4:10689786-10689787	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs557468952	chr4:10689819-10689820	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs575608508	chr4:10689885-10689886	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs187007636	chr4:10689892-10689893	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs545594626	chr4:10689896-10689897	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs373074586	chr4:10689945-10689946	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs572814102	chr4:10689985-10689986	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs192482130	chr4:10689990-10689991	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs540167850	chr4:10689991-10689992	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs201669731	chr4:10690009-10690010	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs74589730	chr4:10690019-10690020	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs12510590	chr4:10690043-10690044	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543822434	chr4:10690044-10690045	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs562608324	chr4:10690065-10690066	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs527441895	chr4:10690102-10690103	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs78057640	chr4:10690103-10690104	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs138686360	chr4:10690108-10690109	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs372710411	chr4:10690109-10690110	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs552821572	chr4:10690143-10690144	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs141802869	chr4:10690147-10690148	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs376103449	chr4:10690149-10690150	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs564781601	chr4:10690171-10690172	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs528833140	chr4:10690244-10690245	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs182884403	chr4:10690301-10690302	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10683600-10691600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:10686600-10690600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr4:10686600-10690800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:10686600-10692800	Enhancers	Primary B cells from peripheral blood	blood
5	chr4:10686800-10690800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:10686800-10691000	Weak transcription	Spleen	Spleen
7	chr4:10688200-10689600	Weak transcription	Primary B cells from cord blood	blood
8	chr4:10688200-10690000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:10688200-10690000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:10688200-10690600	Weak transcription	Thymus	Thymus
11	chr4:10688400-10690800	Weak transcription	Fetal Thymus	thymus
12	chr4:10688800-10693400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:10689000-10689600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:10689000-10689800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:10689000-10689800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:10689200-10689600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr4:10689200-10689600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:10689200-10689800	Flanking Active TSS	GM12878-XiMat	blood
19	chr4:10689200-10689800	Enhancers	HMEC	breast
20	chr4:10689200-10693600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:10689400-10689600	Enhancers	Ovary	ovary
22	chr4:10689400-10689800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:10689600-10692600	Enhancers	Primary B cells from cord blood	blood
24	chr4:10689600-10693400	Weak transcription	Ovary	ovary
25	chr4:10689800-10690800	Enhancers	GM12878-XiMat	blood
26	chr4:10690000-10692600	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:10690000-10692600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:10690600-10692000	Enhancers	Thymus	Thymus
29	chr4:10690600-10692800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr4:10690800-10691000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:10690800-10691000	Flanking Active TSS	GM12878-XiMat	blood
32	chr4:10690800-10691200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr4:10690800-10691600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr4:10690800-10692000	Enhancers	Fetal Thymus	thymus
35	chr4:10691000-10691400	Enhancers	GM12878-XiMat	blood
36	chr4:10691000-10691600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr4:10691000-10691800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:10691000-10691800	Enhancers	Stomach Mucosa	stomach
39	chr4:10691000-10691800	Enhancers	Spleen	Spleen
40	chr4:10691200-10692400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:10691400-10692000	Flanking Active TSS	GM12878-XiMat	blood
42	chr4:10691600-10692000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr4:10691600-10692000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr4:10691800-10692000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:10691800-10692000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:10691800-10693000	Weak transcription	Stomach Mucosa	stomach
47	chr4:10692000-10692600	Enhancers	GM12878-XiMat	blood
48	chr4:10692000-10692600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr4:10692000-10693200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr4:10692000-10697200	Weak transcription	Fetal Thymus	thymus

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