Variant report

Variant	nsv1008569
Chromosome Location	chr3:97937168-97983117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:270)
CpG islands
(count:123)
Chromatin interactive
region (count:3)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:97962650-97963075	HepG2	liver:	n/a	n/a
2	BATF	chr3:97959089-97959288	GM12878	blood:	n/a	chr3:97959202-97959213
3	BATF	chr3:97952380-97952574	GM12878	blood:	n/a	n/a
4	BCL11A	chr3:97952351-97952515	GM12878	blood:	n/a	n/a
5	BCL11A	chr3:97951400-97951563	GM12878	blood:	n/a	n/a
6	BHLHE40	chr3:97951405-97952685	GM12878	blood:	n/a	n/a
7	BHLHE40	chr3:97943474-97943485	GM12878	blood:	n/a	n/a
8	BHLHE40	chr3:97962720-97963131	HepG2	liver:	n/a	n/a
9	BRCA1	chr3:97939937-97940001	GM12878	blood:	n/a	n/a
10	CEBPB	chr3:97962794-97963080	HepG2	liver:	n/a	n/a
11	CHD1	chr3:97959991-97960022	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr3:97942962-97942975	GM12878	blood:	n/a	n/a
13	CHD1	chr3:97952484-97952829	GM12878	blood:	n/a	n/a
14	CHD2	chr3:97952077-97952654	GM12878	blood:	n/a	n/a
15	CTCF	chr3:97978740-97978890	GM12872	blood:	n/a	n/a
16	CTCF	chr3:97978680-97978830	GM12872	blood:	n/a	n/a
17	CTCF	chr3:97978740-97978890	GM12866	blood:	n/a	n/a
18	CTCF	chr3:97978720-97978870	GM12868	blood:	n/a	n/a
19	CTCF	chr3:97978700-97978850	HVMF	connective:	n/a	n/a
20	CTCF	chr3:97978760-97978910	GM12865	blood:	n/a	n/a
21	CTCF	chr3:97978740-97978890	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr3:97978740-97978890	HL-60	blood:	n/a	n/a
23	CTCF	chr3:97978675-97978877	GM12878	blood:	n/a	n/a
24	CTCF	chr3:97957348-97957372	GM13977	blood:	n/a	n/a
25	CTCF	chr3:97978660-97978810	MCF-7	breast:	n/a	n/a
26	CTCF	chr3:97978753-97978801	GM10248	blood:	n/a	n/a
27	CTCF	chr3:97978713-97978847	GM20000	blood:	n/a	n/a
28	CTCF	chr3:97978680-97978830	GM12871	blood:	n/a	n/a
29	CTCF	chr3:97978742-97978765	Fibrobl	skin:	n/a	n/a
30	CTCF	chr3:97978640-97978790	HRE	kidney:	n/a	n/a
31	CTCF	chr3:97978700-97978850	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr3:97952360-97952510	GM12873	blood:	n/a	n/a
33	CTCF	chr3:97978700-97978850	HEK293	kidney:	n/a	n/a
34	CTCF	chr3:97978700-97978850	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr3:97978900-97979050	GM12870	blood:	n/a	n/a
36	CTCF	chr3:97978720-97978870	HMF	breast:	n/a	n/a
37	CTCF	chr3:97978660-97978810	HCFaa	heart:	n/a	n/a
38	CTCF	chr3:97978675-97978874	GM19239	blood:	n/a	n/a
39	CTCF	chr3:97978720-97978870	GM12870	blood:	n/a	n/a
40	CTCF	chr3:97978720-97978870	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr3:97978900-97979050	Caco-2	colon:	n/a	n/a
42	CTCF	chr3:97978540-97978690	AG04450	lung:	n/a	n/a
43	CTCF	chr3:97978690-97978878	GM13977	blood:	n/a	n/a
44	CTCF	chr3:97978599-97978946	GM12878	blood:	n/a	n/a
45	CTCF	chr3:97978660-97978810	NHEK	skin:	n/a	n/a
46	CTCF	chr3:97978440-97978509	GM19240	blood:	n/a	n/a
47	CTCF	chr3:97958660-97958810	GM12871	blood:	n/a	n/a
48	CTCF	chr3:97978707-97978838	K562	blood:	n/a	n/a
49	CTCF	chr3:97978720-97978870	GM12878	blood:	n/a	n/a
50	CTCF	chr3:97978640-97978790	HRPEpiC	eye:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:97982397-97982447	ECC-1	luminal epithelium:	n/a
2	chr3:97982397-97982447	ECC-1	luminal epithelium:	n/a
3	chr3:97982397-97982447	SK-N-MC	brain:	n/a
4	chr3:97982397-97982447	HAEpiC	amniotic membrane:	n/a
5	chr3:97982830-97982880	GM19239	blood:	n/a
6	chr3:97982397-97982447	NHDF-neo	bronchial:	n/a
7	chr3:97982397-97982447	AoSMC	blood vessel:	n/a
8	chr3:97982397-97982447	MCF10A-Er-Src	breast:	n/a
9	chr3:97982830-97982880	PrEC	prostate:	n/a
10	chr3:97982830-97982880	GM12878	blood:	n/a
11	chr3:97982397-97982447	SK-N-SH	brain:	n/a
12	chr3:97982830-97982880	SK-N-SH_RA	brain:	n/a
13	chr3:97982830-97982880	HCM	heart:	n/a
14	chr3:97982830-97982880	HepG2	liver:	n/a
15	chr3:97982830-97982880	LNCaP	prostate:	n/a
16	chr3:97982830-97982880	GM06990	blood:	n/a
17	chr3:97982397-97982447	HEK293	kidney:	embryo
18	chr3:97982397-97982447	RPTEC	kidney:	n/a
19	chr3:97982397-97982447	NHBE	bronchial:	n/a
20	chr3:97982830-97982880	HPAEpiC	pulmonary alveolar:	n/a
21	chr3:97982397-97982447	BJ	skin:	n/a
22	chr3:97982830-97982880	GM12891	blood:	n/a
23	chr3:97982397-97982447	PFSK-1	brain:	n/a
24	chr3:97982397-97982447	HCM	heart:	n/a
25	chr3:97982397-97982447	SKMC	muscle:	n/a
26	chr3:97982830-97982880	A549	lung:	n/a
27	chr3:97982830-97982880	NHDF-neo	bronchial:	n/a
28	chr3:97982830-97982880	ProgFib	skin:	n/a
29	chr3:97982397-97982447	HRE	kidney:	n/a
30	chr3:97982830-97982880	U87	brain:	n/a
31	chr3:97982830-97982880	ECC-1	luminal epithelium:	n/a
32	chr3:97982397-97982447	NT2-D1	testis:	n/a
33	chr3:97982830-97982880	HRCEpiC	kidney:	n/a
34	chr3:97982397-97982447	GM12891	blood:	n/a
35	chr3:97982830-97982880	HEK293	kidney:	embryo
36	chr3:97982830-97982880	AoSMC	blood vessel:	n/a
37	chr3:97982830-97982880	SK-N-SH	brain:	n/a
38	chr3:97982830-97982880	NH-A	brain:	n/a
39	chr3:97982830-97982880	HCT-116	colon:	n/a
40	chr3:97982830-97982880	HRPEpiC	eye:	n/a
41	chr3:97982830-97982880	H1-hESC	embryonic stem cell:	embryo
42	chr3:97982397-97982447	K562	blood:	n/a
43	chr3:97982830-97982880	HCPEpiC	choroid plexus:	n/a
44	chr3:97982830-97982880	HUVEC	blood vessel:	n/a
45	chr3:97982830-97982880	ovcar-3	ovarian:	n/a
46	chr3:97982830-97982880	BE2_C	brain:	n/a
47	chr3:97982830-97982880	HL-60	blood:	n/a
48	chr3:97982830-97982880	MCF-7	breast:	n/a
49	chr3:97982830-97982880	NHBE	bronchial:	n/a
50	chr3:97982830-97982880	Jurkat	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:97977847..97980147-chr3:97980537..97982058,2	MCF-7	breast:
2	chr3:97977847..97980147-chr3:97980537..97982058,2	MCF-7	breast:
3	chr3:97978738..97980851-chr3:98012803..98015207,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
OR5H6	TF binding region
OR5H7P	TF binding region
OR5H4P	TF binding region
ENSG00000251088	TF binding region
OR5H6	CpG island
OR5H7P	CpG island
OR5H4P	CpG island
ENSG00000251088	CpG island
POU2F1	miRNA target sites

Extended variants
information (count: 1229 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1229 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5000372	chr3:97937168-97937169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs201236928	chr3:97937189-97937190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190804257	chr3:97937246-97937247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560545861	chr3:97937248-97937249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532697154	chr3:97937297-97937298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552075300	chr3:97937299-97937300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183033006	chr3:97937300-97937301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372585138	chr3:97937329-97937330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77887788	chr3:97937338-97937339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72929044	chr3:97937354-97937355	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554652419	chr3:97937361-97937362	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs568029759	chr3:97937373-97937374	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs7645384	chr3:97937374-97937375	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73853747	chr3:97937400-97937401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7645400	chr3:97937408-97937409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544147540	chr3:97937419-97937420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7634043	chr3:97937456-97937457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555990234	chr3:97937484-97937485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569408138	chr3:97937512-97937513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538072876	chr3:97937536-97937537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7634063	chr3:97937545-97937546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs115552307	chr3:97937546-97937547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189076337	chr3:97937579-97937580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7647986	chr3:97937656-97937657	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs191832628	chr3:97937689-97937690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577318387	chr3:97937698-97937699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7634274	chr3:97937715-97937716	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562863157	chr3:97937743-97937744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369281188	chr3:97937775-97937776	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs531498152	chr3:97937791-97937792	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs11914600	chr3:97937821-97937822	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561625920	chr3:97937852-97937853	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs62267184	chr3:97937904-97937905	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547298848	chr3:97937922-97937923	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs143546838	chr3:97937942-97937943	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs62267185	chr3:97937964-97937965	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549815951	chr3:97937977-97937978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569687560	chr3:97937984-97937985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538415224	chr3:97938033-97938034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555246820	chr3:97938046-97938047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576844346	chr3:97938049-97938050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13088168	chr3:97938050-97938051	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs534451825	chr3:97938086-97938087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182924437	chr3:97938087-97938088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577140108	chr3:97938102-97938103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34706139	chr3:97938106-97938107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397962933	chr3:97938107-97938108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373868064	chr3:97938108-97938109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62267186	chr3:97938120-97938121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs78486414	chr3:97938154-97938155	Weak transcription Enhancers	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
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97933800-97938000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:97936800-97937600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:97936800-97937800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:97937600-97938000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:97937800-97942400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:97938000-97938200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:97942400-97943400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:97943400-97944000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:97944000-97944200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:97945200-97945600	Active TSS	Esophagus	oesophagus
11	chr3:97951200-97952800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:97951400-97952200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:97951600-97952800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr3:97951800-97952200	Enhancers	Primary hematopoietic stem cells	blood
15	chr3:97952200-97952600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr3:97952200-97952600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:97952600-97953400	Enhancers	Primary hematopoietic stem cells	blood
18	chr3:97952600-97953600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:97958600-97959400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:97959000-97959600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:97959000-97961600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:97959200-97960600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr3:97959200-97961400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:97959200-97961400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:97959200-97961800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:97959400-97961400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:97959600-97960000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:97959800-97960400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:97959800-97960600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr3:97959800-97962000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr3:97960000-97961800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:97962600-97964000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:97970200-97973400	Weak transcription	Fetal Heart	heart
34	chr3:97974200-97974400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr3:97974400-97975000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:97974600-97975400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:97974600-97975800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr3:97974600-97975800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr3:97974800-97975400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr3:97974800-97975400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:97975000-97975600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr3:97975200-97975600	Enhancers	HUES64 Cell Line	embryonic stem cell

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