Variant report

Variant	esv3399236
Chromosome Location	chr3:97977397-97988329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:131)
CpG islands
(count:245)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:131 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:97984146-97984209	HepG2	liver:	n/a	chr3:97984150-97984161
2	CTCF	chr3:97978747-97978818	K562	blood:	n/a	n/a
3	CTCF	chr3:97978720-97978870	HMEC	breast:	n/a	n/a
4	CTCF	chr3:97978700-97978850	HEEpiC	esophagus:	n/a	n/a
5	CTCF	chr3:97978940-97979090	GM12866	blood:	n/a	n/a
6	CTCF	chr3:97978680-97978830	GM12866	blood:	n/a	n/a
7	CTCF	chr3:97978724-97978827	LNCaP	prostate:	n/a	n/a
8	CTCF	chr3:97978720-97978870	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr3:97978420-97978570	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr3:97978720-97978870	GM12870	blood:	n/a	n/a
11	CTCF	chr3:97978720-97978870	GM12869	blood:	n/a	n/a
12	CTCF	chr3:97978720-97978870	NHEK	skin:	n/a	n/a
13	CTCF	chr3:97978300-97978450	GM12871	blood:	n/a	n/a
14	CTCF	chr3:97978710-97978873	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr3:97978760-97978910	GM06990	blood:	n/a	n/a
16	CTCF	chr3:97978700-97978850	GM12868	blood:	n/a	n/a
17	CTCF	chr3:97978620-97978770	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr3:97978684-97978865	HepG2	liver:	n/a	n/a
19	CTCF	chr3:97978753-97978801	GM10248	blood:	n/a	n/a
20	CTCF	chr3:97978660-97978810	GM12874	blood:	n/a	n/a
21	CTCF	chr3:97978700-97978850	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr3:97978682-97978873	NHEK	skin:	n/a	n/a
23	CTCF	chr3:97978675-97978874	GM19239	blood:	n/a	n/a
24	CTCF	chr3:97978740-97978890	HEEpiC	esophagus:	n/a	n/a
25	CTCF	chr3:97978726-97978848	GM10266	blood:	n/a	n/a
26	CTCF	chr3:97978680-97978830	GM12869	blood:	n/a	n/a
27	CTCF	chr3:97978700-97978850	RPTEC	kidney:	n/a	n/a
28	CTCF	chr3:97978700-97978850	A549	lung:	n/a	n/a
29	CTCF	chr3:97978660-97978810	HCT-116	colon:	n/a	n/a
30	CTCF	chr3:97978751-97978794	ProgFib	skin:	n/a	n/a
31	CTCF	chr3:97978670-97978895	Gliobla	brain:	n/a	n/a
32	CTCF	chr3:97978700-97978850	HVMF	connective:	n/a	n/a
33	CTCF	chr3:97978690-97978822	LNCaP	prostate:	n/a	n/a
34	CTCF	chr3:97978740-97978890	GM12865	blood:	n/a	n/a
35	CTCF	chr3:97978686-97978852	MCF-7	breast:	n/a	n/a
36	CTCF	chr3:97978720-97978870	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr3:97978660-97978810	MCF-7	breast:	n/a	n/a
38	CTCF	chr3:97978700-97978850	Caco-2	colon:	n/a	n/a
39	CTCF	chr3:97978700-97978850	AG04449	skin:	n/a	n/a
40	CTCF	chr3:97978707-97978838	K562	blood:	n/a	n/a
41	CTCF	chr3:97978720-97978870	SAEC	small airway:	n/a	n/a
42	CTCF	chr3:97978720-97978870	HepG2	liver:	n/a	n/a
43	CTCF	chr3:97978695-97978847	MCF-7	breast:	n/a	n/a
44	CTCF	chr3:97978660-97978810	Caco-2	colon:	n/a	n/a
45	CTCF	chr3:97978677-97978902	GM19240	blood:	n/a	n/a
46	CTCF	chr3:97978720-97978870	GM12875	blood:	n/a	n/a
47	CTCF	chr3:97978680-97978830	GM12871	blood:	n/a	n/a
48	CTCF	chr3:97978440-97978590	GM12872	blood:	n/a	n/a
49	CTCF	chr3:97978700-97978850	HCT-116	colon:	n/a	n/a
50	CTCF	chr3:97978742-97978765	Fibrobl	skin:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:97983253-97983303	SK-N-SH_RA	brain:	n/a
2	chr3:97983253-97983303	SK-N-SH_RA	brain:	n/a
3	chr3:97982397-97982447	HEK293	kidney:	embryo
4	chr3:97983253-97983303	HRE	kidney:	n/a
5	chr3:97983253-97983303	HCT-116	colon:	n/a
6	chr3:97982397-97982447	AG04449	skin:	fetal
7	chr3:97983540-97983590	HCF	heart:	n/a
8	chr3:97982397-97982447	HIPEpiC	eye:	n/a
9	chr3:97983540-97983590	BE2_C	brain:	n/a
10	chr3:97983253-97983303	HL-60	blood:	n/a
11	chr3:97983540-97983590	RPTEC	kidney:	n/a
12	chr3:97982830-97982880	HMEC	breast:	n/a
13	chr3:97982397-97982447	HUVEC	blood vessel:	n/a
14	chr3:97982830-97982880	RPTEC	kidney:	n/a
15	chr3:97982397-97982447	Hela-S3	cervix:	n/a
16	chr3:97983253-97983303	Hela-S3	cervix:	n/a
17	chr3:97983540-97983590	Jurkat	blood:	n/a
18	chr3:97983253-97983303	PrEC	prostate:	n/a
19	chr3:97982397-97982447	NHDF-neo	bronchial:	n/a
20	chr3:97983253-97983303	GM06990	blood:	n/a
21	chr3:97982397-97982447	GM06990	blood:	n/a
22	chr3:97983253-97983303	PFSK-1	brain:	n/a
23	chr3:97983253-97983303	NB4	blood:	n/a
24	chr3:97983540-97983590	T-47D	breast:	n/a
25	chr3:97983253-97983303	HCF	heart:	n/a
26	chr3:97982397-97982447	GM19239	blood:	n/a
27	chr3:97982397-97982447	AG04450	lung:	fetal
28	chr3:97982397-97982447	T-47D	breast:	n/a
29	chr3:97982830-97982880	PANC-1	pancreas:	n/a
30	chr3:97982397-97982447	IMR90	lung:	fetal
31	chr3:97982397-97982447	AG09319	gingival:	n/a
32	chr3:97983253-97983303	NHDF-neo	bronchial:	n/a
33	chr3:97982397-97982447	MCF-7	breast:	n/a
34	chr3:97982397-97982447	A549	lung:	n/a
35	chr3:97982830-97982880	IMR90	lung:	fetal
36	chr3:97983253-97983303	HepG2	liver:	n/a
37	chr3:97982830-97982880	MCF-7	breast:	n/a
38	chr3:97982830-97982880	SK-N-SH	brain:	n/a
39	chr3:97982830-97982880	AoSMC	blood vessel:	n/a
40	chr3:97983540-97983590	NT2-D1	testis:	n/a
41	chr3:97982397-97982447	HAEpiC	amniotic membrane:	n/a
42	chr3:97983253-97983303	HCPEpiC	choroid plexus:	n/a
43	chr3:97982397-97982447	HCF	heart:	n/a
44	chr3:97982830-97982880	SK-N-MC	brain:	n/a
45	chr3:97982397-97982447	MCF10A-Er-Src	breast:	n/a
46	chr3:97983540-97983590	MCF10A-Er-Src	breast:	n/a
47	chr3:97982830-97982880	NT2-D1	testis:	n/a
48	chr3:97983253-97983303	ECC-1	luminal epithelium:	n/a
49	chr3:97983253-97983303	K562	blood:	n/a
50	chr3:97983540-97983590	SK-N-SH	brain:	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:

No data

Variant related genes	Relation type
OR5H6	TF binding region
OR5H6	CpG island

Extended variants
information (count: 81 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187938384	chr3:97978164-97978165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs542183112	chr3:97978221-97978222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs34532306	chr3:97978269-97978270	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571903315	chr3:97978291-97978292	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs192181534	chr3:97978296-97978297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs73854585	chr3:97978324-97978325	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143628021	chr3:97978326-97978327	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs563753155	chr3:97978344-97978345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370717401	chr3:97978345-97978346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs372218126	chr3:97978346-97978347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs375498194	chr3:97978347-97978348	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs548427494	chr3:97978351-97978352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs568744411	chr3:97978362-97978363	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs565235920	chr3:97978370-97978371	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs35315439	chr3:97978387-97978388	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148061584	chr3:97978392-97978393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs541530633	chr3:97978400-97978401	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs12638827	chr3:97978408-97978409	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35288084	chr3:97978469-97978470	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs371926506	chr3:97978470-97978471	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs35831406	chr3:97978472-97978473	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570824368	chr3:97978502-97978503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555335199	chr3:97978515-97978516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs572322644	chr3:97978517-97978518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs112554948	chr3:97978522-97978523	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs34541751	chr3:97978537-97978538	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs75755235	chr3:97978538-97978539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs34931219	chr3:97978547-97978548	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34690476	chr3:97978550-97978551	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs372085576	chr3:97978575-97978576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs12633366	chr3:97978579-97978580	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576189192	chr3:97978590-97978591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs184001579	chr3:97978593-97978594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113867087	chr3:97978600-97978601	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs547085690	chr3:97978601-97978602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs368786312	chr3:97978646-97978647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs62268863	chr3:97978679-97978680	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562214646	chr3:97978695-97978696	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs143776846	chr3:97978702-97978703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs398106200	chr3:97978703-97978704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs528014536	chr3:97978719-97978720	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs187013506	chr3:97978736-97978737	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs564542136	chr3:97978800-97978801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375804467	chr3:97978810-97978811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs533460283	chr3:97978817-97978818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs550254852	chr3:97978822-97978823	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs62268864	chr3:97978845-97978846	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs77427399	chr3:97978847-97978848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs192263597	chr3:97978859-97978860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs565816233	chr3:97978874-97978875	Inactive region	TF binding region	1 gene(s)	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:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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