Variant report

Variant	nsv877832
Chromosome Location	chr3:163714630-163735214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr3:163722192-163722316	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr3:163722123-163722274	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr3:163722101-163722388	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr3:163722178-163722338	K562	blood:	n/a	chr3:163722244-163722257
5	CTCF	chr3:163729568-163729594	MCF-7	breast:	n/a	n/a
6	CTCF	chr3:163722040-163722190	HCT-116	colon:	n/a	n/a
7	CTCF	chr3:163722106-163722410	H1-hESC	embryonic stem cell:	n/a	chr3:163722244-163722257
8	CTCF	chr3:163722250-163722265	MCF-7	breast:	n/a	n/a
9	CTCF	chr3:163729009-163729072	LNCaP	prostate:	n/a	n/a
10	CTCF	chr3:163722146-163722360	H1-hESC	embryonic stem cell:	n/a	chr3:163722244-163722257
11	CTCF	chr3:163721960-163722110	GM12869	blood:	n/a	n/a
12	CTCF	chr3:163722192-163722314	MCF-7	breast:	n/a	chr3:163722244-163722257
13	CTCF	chr3:163722200-163722350	K562	blood:	n/a	chr3:163722244-163722257
14	CTCF	chr3:163729030-163729112	GM20000	blood:	n/a	n/a
15	CTCF	chr3:163722240-163722390	NB4	blood:	n/a	chr3:163722244-163722257
16	CTCF	chr3:163722126-163722337	K562	blood:	n/a	chr3:163722244-163722257
17	CTCF	chr3:163722080-163722370	HCT-116	colon:	n/a	chr3:163722244-163722257
18	CTCF	chr3:163722086-163722401	H1-hESC	embryonic stem cell:	n/a	chr3:163722244-163722257
19	CTCF	chr3:163722220-163722370	GM12872	blood:	n/a	chr3:163722244-163722257
20	CTCF	chr3:163722140-163722290	GM12865	blood:	n/a	chr3:163722244-163722257
21	CTCF	chr3:163722060-163722210	HFF-Myc	foreskin:	n/a	n/a
22	CTCF	chr3:163722120-163722270	GM12866	blood:	n/a	chr3:163722244-163722257
23	CTCF	chr3:163722180-163722330	Hela-S3	cervix:	n/a	chr3:163722244-163722257
24	CTCF	chr3:163722160-163722310	BE2_C	brain:	n/a	chr3:163722244-163722257
25	CTCF	chr3:163722140-163722290	HEK293	kidney:	n/a	chr3:163722244-163722257
26	CTCF	chr3:163722154-163722352	K562	blood:	n/a	chr3:163722244-163722257
27	CTCF	chr3:163722140-163722290	WERI-Rb-1	eye:	n/a	chr3:163722244-163722257
28	E2F4	chr3:163715293-163715411	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F6	chr3:163722069-163722222	K562	blood:	n/a	chr3:163722135-163722147 chr3:163722136-163722151
30	E2F6	chr3:163722012-163722332	H1-hESC	embryonic stem cell:	n/a	chr3:163722135-163722147 chr3:163722136-163722151
31	FAM48A	chr3:163725464-163725528	GM12878	blood:	n/a	n/a
32	FOS	chr3:163725606-163725629	MCF10A-Er-Src	breast:	n/a	n/a
33	GABPA	chr3:163722068-163722366	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr3:163722177-163722252	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr3:163722027-163722446	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr3:163722072-163722359	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr3:163729024-163729088	MCF-7	breast:	n/a	n/a
38	MYC	chr3:163720936-163721106	MCF-7	breast:	n/a	n/a
39	MYC	chr3:163722233-163722246	MCF-7	breast:	n/a	n/a
40	MYC	chr3:163724645-163724682	MCF-7	breast:	n/a	n/a
41	MYC	chr3:163722197-163722209	MCF-7	breast:	n/a	n/a
42	MYC	chr3:163729552-163729603	MCF-7	breast:	n/a	n/a
43	MYC	chr3:163722161-163722168	MCF-7	breast:	n/a	n/a
44	POLR2A	chr3:163731147-163731235	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr3:163724636-163724691	MCF-7	breast:	n/a	n/a
46	POLR2A	chr3:163725535-163725944	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr3:163725568-163725951	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr3:163734125-163734451	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr3:163717752-163717845	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr3:163732218-163732457	MCF10A-Er-Src	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:163722294-163722344	HEEpiC	esophagus:	n/a
2	chr3:163722208-163722258	HAEpiC	amniotic membrane:	n/a
3	chr3:163722208-163722258	T-47D	breast:	n/a
4	chr3:163719236-163719286	MCF10A-Er-Src	breast:	n/a
5	chr3:163722208-163722258	SK-N-SH_RA	brain:	n/a
6	chr3:163722051-163722101	HRE	kidney:	n/a
7	chr3:163719428-163719478	SKMC	muscle:	n/a
8	chr3:163719236-163719286	Hepatocyte	liver:	n/a
9	chr3:163722294-163722344	Caco-2	colon:	n/a
10	chr3:163719428-163719478	SAEC	small airway:	n/a
11	chr3:163719236-163719286	PFSK-1	brain:	n/a
12	chr3:163722051-163722101	NH-A	brain:	n/a
13	chr3:163719236-163719286	MCF-7	breast:	n/a
14	chr3:163719236-163719286	HCPEpiC	choroid plexus:	n/a
15	chr3:163719236-163719286	NHDF-neo	bronchial:	n/a
16	chr3:163722208-163722258	AG10803	skin:	n/a
17	chr3:163722208-163722258	HCPEpiC	choroid plexus:	n/a
18	chr3:163719428-163719478	HCT-116	colon:	n/a
19	chr3:163722051-163722101	T-47D	breast:	n/a
20	chr3:163719428-163719478	GM19239	blood:	n/a
21	chr3:163719236-163719286	HRPEpiC	eye:	n/a
22	chr3:163719236-163719286	AG09309	skin:	n/a
23	chr3:163722294-163722344	PANC-1	pancreas:	n/a
24	chr3:163722294-163722344	U87	brain:	n/a
25	chr3:163722294-163722344	CMK	blood:	n/a
26	chr3:163722294-163722344	ovcar-3	ovarian:	n/a
27	chr3:163722208-163722258	HMEC	breast:	n/a
28	chr3:163722294-163722344	HL-60	blood:	n/a
29	chr3:163719236-163719286	A549	lung:	n/a
30	chr3:163722294-163722344	T-47D	breast:	n/a
31	chr3:163722208-163722258	RPTEC	kidney:	n/a
32	chr3:163722051-163722101	SAEC	small airway:	n/a
33	chr3:163719236-163719286	LNCaP	prostate:	n/a
34	chr3:163722294-163722344	NB4	blood:	n/a
35	chr3:163722294-163722344	HCT-116	colon:	n/a
36	chr3:163719236-163719286	IMR90	lung:	fetal
37	chr3:163719428-163719478	NHDF-neo	bronchial:	n/a
38	chr3:163719236-163719286	SKMC	muscle:	n/a
39	chr3:163722208-163722258	SKMC	muscle:	n/a
40	chr3:163719236-163719286	RPTEC	kidney:	n/a
41	chr3:163722208-163722258	HCM	heart:	n/a
42	chr3:163719236-163719286	ECC-1	luminal epithelium:	n/a
43	chr3:163722208-163722258	Hepatocyte	liver:	n/a
44	chr3:163722294-163722344	HNPCEpiC	eye:	n/a
45	chr3:163722051-163722101	PFSK-1	brain:	n/a
46	chr3:163719428-163719478	ProgFib	skin:	n/a
47	chr3:163722208-163722258	NHDF-neo	bronchial:	n/a
48	chr3:163722051-163722101	HEEpiC	esophagus:	n/a
49	chr3:163719236-163719286	BJ	skin:	n/a
50	chr3:163719236-163719286	AG04449	skin:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SI-6	chr3:163719394-163720253	NONHSAT093045

No data

Variant related genes	Relation type
ENSG00000214210	TF binding region
ENSG00000214210	CpG island

Extended variants
information (count: 313 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533077162	chr3:163719229-163719230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34968380	chr3:163719236-163719237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376139413	chr3:163719237-163719238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566676494	chr3:163719271-163719272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535686428	chr3:163719278-163719279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79337210	chr3:163719294-163719295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370458202	chr3:163719303-163719304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201555058	chr3:163719323-163719324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs36074517	chr3:163719325-163719326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs35777982	chr3:163719327-163719328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397698871	chr3:163719328-163719329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565657371	chr3:163719341-163719342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537034076	chr3:163719358-163719359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368071281	chr3:163719377-163719378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146666655	chr3:163719382-163719383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576895177	chr3:163719394-163719395	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs541852327	chr3:163719410-163719411	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs202208053	chr3:163719428-163719429	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs573094956	chr3:163719429-163719430	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs374514412	chr3:163719442-163719443	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs542457697	chr3:163719578-163719579	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs540565515	chr3:163719579-163719580	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs148843918	chr3:163719604-163719605	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs575930170	chr3:163719626-163719627	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs186733319	chr3:163719713-163719714	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs192345241	chr3:163719716-163719717	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs533012872	chr3:163719753-163719754	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs546728119	chr3:163719757-163719758	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs533203915	chr3:163719763-163719764	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs76509988	chr3:163719808-163719809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs201261256	chr3:163719819-163719820	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs549194596	chr3:163719837-163719838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs551098309	chr3:163719841-163719842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs569019991	chr3:163719884-163719885	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs375154989	chr3:163719906-163719907	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs569622969	chr3:163719917-163719918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs183270727	chr3:163719923-163719924	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs35457968	chr3:163719924-163719925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs536792067	chr3:163719948-163719949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs186887475	chr3:163720011-163720012	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs555488069	chr3:163720026-163720027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs553049456	chr3:163720041-163720042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs573031832	chr3:163720054-163720055	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs535659253	chr3:163720055-163720056	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs555943905	chr3:163720063-163720064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs575820371	chr3:163720074-163720075	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs544893266	chr3:163720076-163720077	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs567336645	chr3:163720081-163720082	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs189967004	chr3:163720098-163720099	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs577707645	chr3:163720120-163720121	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163719200-163719800	Enhancers	Fetal Stomach	stomach
2	chr3:163720600-163721200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:163721200-163721800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:163721800-163722000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:163722000-163722200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:163722200-163724600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:163724800-163727000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links