Variant report

Variant	esv992869
Chromosome Location	chr3:101348433-101360316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:568)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:101355201-101355517	K562	blood:	n/a	n/a
2	ARID3A	chr3:101354207-101354432	K562	blood:	n/a	n/a
3	ARID3A	chr3:101359815-101359913	K562	blood:	n/a	n/a
4	ARID3A	chr3:101355267-101355349	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:101356991-101357339	K562	blood:	n/a	n/a
6	ARID3A	chr3:101351004-101351245	K562	blood:	n/a	n/a
7	ARID3A	chr3:101359236-101359436	K562	blood:	n/a	n/a
8	ATF1	chr3:101350961-101351288	K562	blood:	n/a	n/a
9	ATF1	chr3:101359225-101359625	K562	blood:	n/a	n/a
10	ATF3	chr3:101354149-101354566	K562	blood:	n/a	n/a
11	BACH1	chr3:101354206-101354221	K562	blood:	n/a	n/a
12	BHLHE40	chr3:101357627-101357689	K562	blood:	n/a	n/a
13	BHLHE40	chr3:101355011-101355208	K562	blood:	n/a	n/a
14	BHLHE40	chr3:101356930-101357299	K562	blood:	n/a	n/a
15	BHLHE40	chr3:101356400-101356547	K562	blood:	n/a	n/a
16	BHLHE40	chr3:101353500-101353958	K562	blood:	n/a	n/a
17	CEBPB	chr3:101355123-101355372	K562	blood:	n/a	n/a
18	CEBPB	chr3:101359827-101359896	K562	blood:	n/a	n/a
19	CEBPB	chr3:101360213-101360686	K562	blood:	n/a	n/a
20	CEBPD	chr3:101360267-101360795	K562	blood:	n/a	n/a
21	CTCF	chr3:101355080-101355230	GM12873	blood:	n/a	n/a
22	CTCF	chr3:101355080-101355230	NHEK	skin:	n/a	n/a
23	CTCF	chr3:101355180-101355330	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr3:101355153-101355319	A549	lung:	n/a	n/a
25	CTCF	chr3:101355107-101355369	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr3:101355068-101355384	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr3:101355200-101355350	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr3:101355080-101355230	AG09319	gingival:	n/a	n/a
29	CTCF	chr3:101355063-101355360	K562	blood:	n/a	n/a
30	CTCF	chr3:101357040-101357190	GM12865	blood:	n/a	n/a
31	CTCF	chr3:101356980-101357130	GM12869	blood:	n/a	n/a
32	CTCF	chr3:101355102-101355373	A549	lung:	n/a	n/a
33	CTCF	chr3:101355100-101355250	GM12872	blood:	n/a	n/a
34	CTCF	chr3:101357120-101357270	Caco-2	colon:	n/a	n/a
35	CTCF	chr3:101355140-101355290	GM12875	blood:	n/a	n/a
36	CTCF	chr3:101355097-101355356	MCF-7	breast:	n/a	n/a
37	CTCF	chr3:101357120-101357233	GM10266	blood:	n/a	n/a
38	CTCF	chr3:101355300-101355450	WI-38	lung:	n/a	n/a
39	CTCF	chr3:101357100-101357250	MCF-7	breast:	n/a	n/a
40	CTCF	chr3:101357120-101357270	HVMF	connective:	n/a	n/a
41	CTCF	chr3:101355080-101355230	BE2_C	brain:	n/a	n/a
42	CTCF	chr3:101357137-101357238	GM13976	blood:	n/a	n/a
43	CTCF	chr3:101355107-101355400	LNCaP	prostate:	n/a	n/a
44	CTCF	chr3:101355120-101355270	NB4	blood:	n/a	n/a
45	CTCF	chr3:101355091-101355379	MCF-7	breast:	n/a	n/a
46	CTCF	chr3:101355139-101355367	GM13976	blood:	n/a	n/a
47	CTCF	chr3:101356980-101357130	RPTEC	kidney:	n/a	n/a
48	CTCF	chr3:101357020-101357170	K562	blood:	n/a	n/a
49	CTCF	chr3:101357020-101357170	GM06990	blood:	n/a	n/a
50	CTCF	chr3:101357060-101357210	GM12873	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101356897..101358626-chr3:101404065..101405889,2	K562	blood:
2	chr3:101354862..101356465-chr3:101408456..101410903,2	K562	blood:
3	chr3:101292768..101294361-chr3:101357910..101360353,2	K562	blood:
4	chr3:101303692..101306501-chr3:101349229..101351407,2	K562	blood:
5	chr3:101100587..101101297-chr3:101356616..101357604,3	MCF-7	breast:
6	chr3:101353618..101355118-chr3:101363975..101366974,2	MCF-7	breast:
7	chr3:101354125..101359417-chr3:101402279..101407297,7	K562	blood:
8	chr3:101290744..101293723-chr3:101348752..101353109,4	K562	blood:
9	chr3:101279160..101282179-chr3:101355141..101357890,3	MCF-7	breast:
10	chr3:101291285..101293708-chr3:101352977..101355933,2	MCF-7	breast:
11	chr3:101290744..101294519-chr3:101349897..101353536,8	K562	blood:
12	chr3:101343899..101346704-chr3:101352292..101354517,2	K562	blood:
13	chr3:100948344..100949129-chr3:101356737..101357345,3	MCF-7	breast:
14	chr3:101291801..101292869-chr3:101354955..101356014,3	MCF-7	breast:
15	chr3:101330944..101333451-chr3:101352917..101354894,2	K562	blood:
16	chr3:101357931..101359900-chr3:101366433..101368278,2	K562	blood:
17	chr3:101290462..101294650-chr3:101353869..101359325,5	MCF-7	breast:
18	chr3:101354125..101356574-chr3:101403705..101405900,2	K562	blood:
19	chr3:101359985..101362723-chr3:101395223..101396875,2	K562	blood:
20	chr3:101290829..101293797-chr3:101356493..101360609,3	K562	blood:
21	chr3:101292975..101294521-chr3:101350316..101352906,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212319	TF binding region
ENSG00000114391	chromatin interactions
ENSG00000081154	chromatin interactions
ENSG00000201511	chromatin interactions
ENSG00000066422	chromatin interactions
ENSG00000256628	chromatin interactions
ENSG00000174173	chromatin interactions

Extended variants
information (count: 414 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141007682	chr3:101348453-101348454	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs534667226	chr3:101348457-101348458	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs555775515	chr3:101348510-101348511	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs150238833	chr3:101348557-101348558	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs139288949	chr3:101348565-101348566	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113330958	chr3:101348574-101348575	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs578141610	chr3:101348614-101348615	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs202210442	chr3:101348662-101348663	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577021813	chr3:101348663-101348664	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs545718857	chr3:101348665-101348666	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188830016	chr3:101348668-101348669	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs118003207	chr3:101348686-101348687	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs546842587	chr3:101348697-101348698	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561359533	chr3:101348711-101348712	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs574326599	chr3:101348833-101348834	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528815433	chr3:101348883-101348884	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73157368	chr3:101348936-101348937	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568654871	chr3:101348938-101348939	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539506047	chr3:101348946-101348947	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs116303055	chr3:101348951-101348952	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567027588	chr3:101348955-101348956	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112761197	chr3:101348988-101348989	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147117294	chr3:101349020-101349021	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574085563	chr3:101349084-101349085	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369522417	chr3:101349169-101349170	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs199573475	chr3:101349180-101349181	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4683937	chr3:101349181-101349182	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs201397022	chr3:101349186-101349187	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183202516	chr3:101349188-101349189	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199796125	chr3:101349190-101349191	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201970642	chr3:101349193-101349194	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142711523	chr3:101349255-101349256	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200696309	chr3:101349264-101349265	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564145211	chr3:101349279-101349280	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572955741	chr3:101349281-101349282	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs115236263	chr3:101349312-101349313	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111574312	chr3:101349334-101349335	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187133255	chr3:101349345-101349346	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529143684	chr3:101349408-101349409	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550196946	chr3:101349411-101349412	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71315245	chr3:101349499-101349500	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532908485	chr3:101349502-101349503	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs369078087	chr3:101349507-101349508	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs566961661	chr3:101349606-101349607	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs6441620	chr3:101349644-101349645	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191650943	chr3:101349660-101349661	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77541082	chr3:101349678-101349679	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538522710	chr3:101349697-101349698	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568406841	chr3:101349699-101349700	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148003819	chr3:101349721-101349722	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101344000-101348800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:101348400-101350000	Active TSS	K562	blood
3	chr3:101350000-101350400	Transcr. at gene 5' and 3'	K562	blood
4	chr3:101350400-101352600	Active TSS	K562	blood
5	chr3:101350600-101366800	Weak transcription	Fetal Brain Female	brain
6	chr3:101351200-101351400	Bivalent Enhancer	HepG2	liver
7	chr3:101351200-101353400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:101351400-101352200	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr3:101352200-101352600	Bivalent Enhancer	HepG2	liver
10	chr3:101352600-101354200	Transcr. at gene 5' and 3'	K562	blood
11	chr3:101353200-101355200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:101353400-101354000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:101353600-101354200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:101353600-101355200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:101353600-101355200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:101353800-101354200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:101354000-101356400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:101354000-101356800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:101354200-101354600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:101354200-101355000	Enhancers	NH-A	brain
21	chr3:101354200-101355400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:101354200-101355600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:101354200-101356600	Active TSS	K562	blood
24	chr3:101354200-101357000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:101354400-101355200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:101354600-101354800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:101354600-101354800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:101354600-101354800	Enhancers	Fetal Muscle Leg	muscle
29	chr3:101354600-101355200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:101354600-101355200	Bivalent/Poised TSS	HepG2	liver
31	chr3:101354800-101355000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr3:101354800-101355000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:101354800-101355000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:101354800-101355000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:101354800-101355000	Flanking Active TSS	Osteobl	bone
36	chr3:101354800-101355200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr3:101354800-101355200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:101354800-101355200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:101354800-101355200	Enhancers	Fetal Thymus	thymus
40	chr3:101354800-101355200	Enhancers	Right Atrium	heart
41	chr3:101354800-101355400	Active TSS	NHLF	lung
42	chr3:101354800-101355600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:101354800-101355600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr3:101354800-101355600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:101354800-101355600	Enhancers	Primary B cells from peripheral blood	blood
46	chr3:101354800-101355600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:101354800-101355600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:101354800-101355600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:101354800-101355600	Enhancers	GM12878-XiMat	blood
50	chr3:101354800-101356400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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