Variant report

Variant	nsv591064
Chromosome Location	chr3:97931105-97958280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr3:97952380-97952574	GM12878	blood:	n/a	n/a
2	BCL11A	chr3:97952351-97952515	GM12878	blood:	n/a	n/a
3	BCL11A	chr3:97951400-97951563	GM12878	blood:	n/a	n/a
4	BHLHE40	chr3:97943474-97943485	GM12878	blood:	n/a	n/a
5	BHLHE40	chr3:97951405-97952685	GM12878	blood:	n/a	n/a
6	BRCA1	chr3:97939937-97940001	GM12878	blood:	n/a	n/a
7	CHD1	chr3:97942962-97942975	GM12878	blood:	n/a	n/a
8	CHD1	chr3:97952484-97952829	GM12878	blood:	n/a	n/a
9	CHD2	chr3:97952077-97952654	GM12878	blood:	n/a	n/a
10	CTCF	chr3:97952380-97952530	GM12878	blood:	n/a	n/a
11	CTCF	chr3:97952340-97952490	GM06990	blood:	n/a	n/a
12	CTCF	chr3:97952360-97952510	GM12873	blood:	n/a	n/a
13	CTCF	chr3:97952400-97952550	GM12868	blood:	n/a	n/a
14	CTCF	chr3:97957348-97957372	GM13977	blood:	n/a	n/a
15	CTCF	chr3:97952320-97952470	GM12872	blood:	n/a	n/a
16	CTCF	chr3:97952340-97952490	GM12873	blood:	n/a	n/a
17	CUX1	chr3:97954941-97955041	GM12878	blood:	n/a	n/a
18	CUX1	chr3:97952186-97952580	GM12878	blood:	n/a	n/a
19	CUX1	chr3:97950242-97950304	GM12878	blood:	n/a	n/a
20	CUX1	chr3:97951097-97951764	GM12878	blood:	n/a	n/a
21	E2F4	chr3:97956249-97956436	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F6	chr3:97945258-97945608	H1-hESC	embryonic stem cell:	n/a	n/a
23	EBF1	chr3:97955751-97955777	GM12878	blood:	n/a	n/a
24	EBF1	chr3:97950253-97951851	GM12878	blood:	n/a	n/a
25	EBF1	chr3:97953388-97953441	GM12878	blood:	n/a	n/a
26	EBF1	chr3:97952207-97952623	GM12878	blood:	n/a	n/a
27	EBF1	chr3:97942889-97943689	GM12878	blood:	n/a	n/a
28	EBF1	chr3:97954436-97955224	GM12878	blood:	n/a	chr3:97954988-97954999 chr3:97954989-97954999 chr3:97954988-97955001 chr3:97954990-97954999
29	EBF1	chr3:97952104-97952725	GM12878	blood:	n/a	n/a
30	EBF1	chr3:97952295-97952631	GM12878	blood:	n/a	n/a
31	ELK1	chr3:97950909-97950973	GM12878	blood:	n/a	n/a
32	EP300	chr3:97943284-97943397	GM12878	blood:	n/a	n/a
33	EP300	chr3:97950308-97950601	GM12878	blood:	n/a	chr3:97950574-97950588
34	EP300	chr3:97942865-97943065	GM12878	blood:	n/a	chr3:97942875-97942884 chr3:97942874-97942883
35	EP300	chr3:97951405-97951686	GM12878	blood:	n/a	n/a
36	EP300	chr3:97952127-97952625	GM12878	blood:	n/a	n/a
37	EP300	chr3:97942493-97942522	GM12878	blood:	n/a	n/a
38	FOS	chr3:97945322-97945450	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr3:97942825-97942886	MCF10A-Er-Src	breast:	n/a	chr3:97942875-97942883 chr3:97942876-97942883 chr3:97942875-97942884 chr3:97942874-97942883
40	IKZF1	chr3:97952407-97952731	GM12878	blood:	n/a	n/a
41	MAFK	chr3:97937766-97937953	IMR90	lung:	n/a	n/a
42	MAX	chr3:97952237-97952646	GM12878	blood:	n/a	n/a
43	MAX	chr3:97950305-97950329	GM12878	blood:	n/a	n/a
44	MAZ	chr3:97934266-97934355	HepG2	liver:	n/a	n/a
45	MXI1	chr3:97952265-97952626	GM12878	blood:	n/a	n/a
46	MYC	chr3:97952344-97952556	GM12878	blood:	n/a	n/a
47	PAX5	chr3:97952314-97952593	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:97952323-97952758	GM12878	blood:	n/a	n/a
49	POLR2A	chr3:97933427-97933577	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr3:97952376-97952664	GM12892	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MINA-2	chr3:97956121-97956211	XLOC_003187
2	lnc-OR5H6-1	chr3:97952495-97952520	ENSG00000251088.1
3	lnc-MINA-2	chr3:97949910-97950089	XLOC_003187
4	lnc-MINA-2	chr3:97954345-97954692	XLOC_003187
5	lnc-MINA-2	chr3:97955718-97955882	XLOC_003187
6	lnc-MINA-2	chr3:97954530-97954692	XLOC_003187
7	lnc-MINA-2	chr3:97949910-97950089	XLOC_003187
8	lnc-MINA-2	chr3:97956121-97956217	XLOC_003187
9	lnc-MINA-2	chr3:97955718-97955882	XLOC_003187
10	lnc-MINA-2	chr3:97956121-97956219	XLOC_003187
11	lnc-MINA-2	chr3:97955718-97955882	XLOC_003187

No data

Variant related genes	Relation type
ENSG00000251088	TF binding region
OR5H7P	TF binding region
OR5H4P	TF binding region
POU2F1	miRNA target sites

Extended variants
information (count: 965 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:965 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4334683	chr3:97931105-97931106	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4295199	chr3:97931120-97931121	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190688025	chr3:97931143-97931144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574064148	chr3:97931187-97931188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201266126	chr3:97931199-97931200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202023550	chr3:97931200-97931201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200357616	chr3:97931204-97931205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183398405	chr3:97931214-97931215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141093299	chr3:97931221-97931222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7628787	chr3:97931223-97931224	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs545286065	chr3:97931249-97931250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544283606	chr3:97931266-97931267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371027946	chr3:97931316-97931317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575285610	chr3:97931328-97931329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187934755	chr3:97931384-97931385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193200062	chr3:97931479-97931480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529779002	chr3:97931500-97931501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182860745	chr3:97931508-97931509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559736921	chr3:97931511-97931512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374452969	chr3:97931527-97931528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187930075	chr3:97931537-97931538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7629122	chr3:97931552-97931553	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571626612	chr3:97931623-97931624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7636916	chr3:97931624-97931625	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115916668	chr3:97931653-97931654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536389365	chr3:97931660-97931661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553443793	chr3:97931676-97931677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377227512	chr3:97931677-97931678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538858360	chr3:97931680-97931681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558857345	chr3:97931713-97931714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7629314	chr3:97931784-97931785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7615614	chr3:97931805-97931806	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7627018	chr3:97931808-97931809	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546830448	chr3:97931810-97931811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201279914	chr3:97931817-97931818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199826434	chr3:97931833-97931834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183876160	chr3:97931868-97931869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528630673	chr3:97931879-97931880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551571906	chr3:97931933-97931934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565221402	chr3:97931986-97931987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56318537	chr3:97931989-97931990	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550946174	chr3:97932001-97932002	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567515315	chr3:97932030-97932031	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs6771271	chr3:97932053-97932054	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532860420	chr3:97932063-97932064	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs6795155	chr3:97932081-97932082	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs6786518	chr3:97932095-97932096	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189569135	chr3:97932098-97932099	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs558816414	chr3:97932101-97932102	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs569168747	chr3:97932140-97932141	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97928200-97932200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:97928200-97936800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:97928400-97932200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:97928800-97934000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:97930000-97932000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:97931000-97932800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:97931800-97932000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:97932000-97932200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr3:97932000-97932200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:97932000-97932800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr3:97932200-97932600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr3:97932200-97932600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr3:97932200-97932600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr3:97932200-97932600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:97932200-97932800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr3:97932600-97932800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:97932600-97932800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:97932600-97933800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:97932800-97933600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:97932800-97933800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:97932800-97936200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:97933800-97934000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:97933800-97934200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:97933800-97938000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:97934000-97934400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:97936200-97936800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:97936800-97937600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:97936800-97937800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:97937600-97938000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:97937800-97942400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:97938000-97938200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr3:97942400-97943400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:97943400-97944000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:97944000-97944200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:97945200-97945600	Active TSS	Esophagus	oesophagus
36	chr3:97951200-97952800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:97951400-97952200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:97951600-97952800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr3:97951800-97952200	Enhancers	Primary hematopoietic stem cells	blood
40	chr3:97952200-97952600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr3:97952200-97952600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:97952600-97953400	Enhancers	Primary hematopoietic stem cells	blood
43	chr3:97952600-97953600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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