Variant report

Variant	nsv877213
Chromosome Location	chr3:97973670-97992964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:140)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:140 , 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	chr3:97978680-97978830	GM12873	blood:	n/a	n/a
3	CTCF	chr3:97978980-97979130	A549	lung:	n/a	n/a
4	CTCF	chr3:97978700-97978850	GM12868	blood:	n/a	n/a
5	CTCF	chr3:97978680-97978830	K562	blood:	n/a	n/a
6	CTCF	chr3:97978740-97978890	BE2_C	brain:	n/a	n/a
7	CTCF	chr3:97978675-97978874	GM19239	blood:	n/a	n/a
8	CTCF	chr3:97978720-97978870	HMEC	breast:	n/a	n/a
9	CTCF	chr3:97978300-97978450	GM12871	blood:	n/a	n/a
10	CTCF	chr3:97978695-97978847	MCF-7	breast:	n/a	n/a
11	CTCF	chr3:97978640-97978790	GM12878	blood:	n/a	n/a
12	CTCF	chr3:97978720-97978870	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr3:97978683-97978863	GM12891	blood:	n/a	n/a
14	CTCF	chr3:97978740-97978890	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr3:97978700-97978850	GM12867	blood:	n/a	n/a
16	CTCF	chr3:97978740-97978890	GM12872	blood:	n/a	n/a
17	CTCF	chr3:97978640-97978790	GM06990	blood:	n/a	n/a
18	CTCF	chr3:97978720-97978870	GM12871	blood:	n/a	n/a
19	CTCF	chr3:97978740-97978890	GM12875	blood:	n/a	n/a
20	CTCF	chr3:97978900-97979050	Caco-2	colon:	n/a	n/a
21	CTCF	chr3:97978680-97978830	GM12866	blood:	n/a	n/a
22	CTCF	chr3:97978708-97978833	MCF-7	breast:	n/a	n/a
23	CTCF	chr3:97978440-97978590	GM12872	blood:	n/a	n/a
24	CTCF	chr3:97978720-97978870	GM12864	blood:	n/a	n/a
25	CTCF	chr3:97978720-97978870	GM12874	blood:	n/a	n/a
26	CTCF	chr3:97978640-97978790	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr3:97978680-97978830	GM12869	blood:	n/a	n/a
28	CTCF	chr3:97978599-97978946	GM12878	blood:	n/a	n/a
29	CTCF	chr3:97978660-97978810	GM12873	blood:	n/a	n/a
30	CTCF	chr3:97978680-97978830	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr3:97978686-97978852	MCF-7	breast:	n/a	n/a
32	CTCF	chr3:97978700-97978850	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr3:97978700-97978850	AG04449	skin:	n/a	n/a
34	CTCF	chr3:97978726-97978848	GM10266	blood:	n/a	n/a
35	CTCF	chr3:97978660-97978810	BE2_C	brain:	n/a	n/a
36	CTCF	chr3:97978720-97978870	HMF	breast:	n/a	n/a
37	CTCF	chr3:97978620-97978770	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr3:97978720-97978870	GM12869	blood:	n/a	n/a
39	CTCF	chr3:97978580-97978730	WI-38	lung:	n/a	n/a
40	CTCF	chr3:97978594-97978885	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr3:97978751-97978794	ProgFib	skin:	n/a	n/a
42	CTCF	chr3:97978686-97978866	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr3:97978732-97978804	GM13976	blood:	n/a	n/a
44	CTCF	chr3:97978672-97978836	HepG2	liver:	n/a	n/a
45	CTCF	chr3:97978660-97978810	Caco-2	colon:	n/a	n/a
46	CTCF	chr3:97978677-97978902	GM19240	blood:	n/a	n/a
47	CTCF	chr3:97978760-97978910	GM12865	blood:	n/a	n/a
48	CTCF	chr3:97978760-97978910	HVMF	connective:	n/a	n/a
49	CTCF	chr3:97978740-97978890	GM12866	blood:	n/a	n/a
50	CTCF	chr3:97978742-97978765	Fibrobl	skin:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:97983540-97983590	CMK	blood:	n/a
2	chr3:97982830-97982880	AG09319	gingival:	n/a
3	chr3:97982830-97982880	U87	brain:	n/a
4	chr3:97982397-97982447	GM12892	blood:	n/a
5	chr3:97983540-97983590	PANC-1	pancreas:	n/a
6	chr3:97982397-97982447	HEK293	kidney:	embryo
7	chr3:97983253-97983303	NHBE	bronchial:	n/a
8	chr3:97983253-97983303	T-47D	breast:	n/a
9	chr3:97982830-97982880	HCT-116	colon:	n/a
10	chr3:97983540-97983590	PFSK-1	brain:	n/a
11	chr3:97983540-97983590	AG10803	skin:	n/a
12	chr3:97983253-97983303	AG09319	gingival:	n/a
13	chr3:97982397-97982447	ProgFib	skin:	n/a
14	chr3:97983540-97983590	Hela-S3	cervix:	n/a
15	chr3:97983253-97983303	SK-N-MC	brain:	n/a
16	chr3:97982397-97982447	BE2_C	brain:	n/a
17	chr3:97983253-97983303	HPAEpiC	pulmonary alveolar:	n/a
18	chr3:97982397-97982447	GM06990	blood:	n/a
19	chr3:97982830-97982880	HMEC	breast:	n/a
20	chr3:97982397-97982447	GM12891	blood:	n/a
21	chr3:97983253-97983303	HCM	heart:	n/a
22	chr3:97982397-97982447	HUVEC	blood vessel:	n/a
23	chr3:97983253-97983303	HNPCEpiC	eye:	n/a
24	chr3:97982830-97982880	RPTEC	kidney:	n/a
25	chr3:97983540-97983590	HRE	kidney:	n/a
26	chr3:97982830-97982880	A549	lung:	n/a
27	chr3:97982830-97982880	ProgFib	skin:	n/a
28	chr3:97983253-97983303	Hepatocyte	liver:	n/a
29	chr3:97983253-97983303	AG09309	skin:	n/a
30	chr3:97983253-97983303	GM06990	blood:	n/a
31	chr3:97983253-97983303	Hela-S3	cervix:	n/a
32	chr3:97983540-97983590	GM12878	blood:	n/a
33	chr3:97982830-97982880	GM19239	blood:	n/a
34	chr3:97983540-97983590	U87	brain:	n/a
35	chr3:97983540-97983590	Jurkat	blood:	n/a
36	chr3:97982830-97982880	Hela-S3	cervix:	n/a
37	chr3:97982397-97982447	SKMC	muscle:	n/a
38	chr3:97982830-97982880	LNCaP	prostate:	n/a
39	chr3:97983253-97983303	SK-N-SH_RA	brain:	n/a
40	chr3:97982830-97982880	HIPEpiC	eye:	n/a
41	chr3:97983253-97983303	HEEpiC	esophagus:	n/a
42	chr3:97982397-97982447	HRE	kidney:	n/a
43	chr3:97982830-97982880	PFSK-1	brain:	n/a
44	chr3:97982397-97982447	HEEpiC	esophagus:	n/a
45	chr3:97982830-97982880	K562	blood:	n/a
46	chr3:97982830-97982880	HNPCEpiC	eye:	n/a
47	chr3:97982397-97982447	H1-hESC	embryonic stem cell:	embryo
48	chr3:97982397-97982447	Hepatocyte	liver:	n/a
49	chr3:97982830-97982880	PrEC	prostate:	n/a
50	chr3:97983253-97983303	BE2_C	brain:	n/a

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

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

No data

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

Extended variants
information (count: 254 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556338123	chr3:97974205-97974206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570170089	chr3:97974219-97974220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34105874	chr3:97974248-97974249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535608542	chr3:97974257-97974258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189825155	chr3:97974287-97974288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138893542	chr3:97974289-97974290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539695328	chr3:97974313-97974314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540999482	chr3:97974316-97974317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558125586	chr3:97974332-97974333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181872505	chr3:97974367-97974368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572874971	chr3:97974391-97974392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543408607	chr3:97974413-97974414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563010901	chr3:97974434-97974435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528978229	chr3:97974455-97974456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541998239	chr3:97974459-97974460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561980020	chr3:97974475-97974476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527970902	chr3:97974510-97974511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547824939	chr3:97974528-97974529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9829822	chr3:97974549-97974550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs9833818	chr3:97974553-97974554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79896859	chr3:97974571-97974572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9829977	chr3:97974643-97974644	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186889311	chr3:97974650-97974651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6809869	chr3:97974674-97974675	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115601541	chr3:97974742-97974743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565922542	chr3:97974743-97974744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80338223	chr3:97974757-97974758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534797858	chr3:97974763-97974764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188841216	chr3:97974784-97974785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369940506	chr3:97974797-97974798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577885622	chr3:97974815-97974816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543022973	chr3:97974825-97974826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556568717	chr3:97974845-97974846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181942079	chr3:97974854-97974855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542356857	chr3:97974855-97974856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561943836	chr3:97974894-97974895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6772436	chr3:97974896-97974897	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs150767676	chr3:97974906-97974907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138842428	chr3:97974933-97974934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533697219	chr3:97974940-97974941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149483508	chr3:97974966-97974967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369076488	chr3:97974974-97974975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186107198	chr3:97974991-97974992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563705185	chr3:97975037-97975038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189733847	chr3:97975038-97975039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72932843	chr3:97975046-97975047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143915705	chr3:97975057-97975058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534477908	chr3:97975069-97975070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6764268	chr3:97975108-97975109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571429883	chr3:97975121-97975122	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97974200-97974400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr3:97974400-97975000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:97974600-97975400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:97974600-97975800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:97974600-97975800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:97974800-97975400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr3:97974800-97975400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:97975000-97975600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:97975200-97975600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:97989600-97990000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr3:97990000-97991000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:97990400-97991600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:97991000-97991200	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links