Variant report

Variant	nsv1013501
Chromosome Location	chr3:163166926-163204516
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:163194056-163194256	K562	blood:	n/a	n/a
2	CEBPB	chr3:163171743-163171942	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr3:163171743-163171956	MCF-7	breast:	n/a	n/a
4	CTCF	chr3:163194084-163194170	Spleen_OC	spleen:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
5	CTCF	chr3:163194020-163194170	SK-N-SH_RA	brain:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
6	CTCF	chr3:163194088-163194213	Gliobla	brain:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
7	CTCF	chr3:163194116-163194165	MCF-7	breast:	n/a	chr3:163194147-163194160 chr3:163194144-163194162
8	CTCF	chr3:163194080-163194230	Caco-2	colon:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
9	CTCF	chr3:163194034-163194261	MCF-7	breast:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
10	CTCF	chr3:163194100-163194250	SAEC	small airway:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
11	CTCF	chr3:163194030-163194227	SK-N-SH_RA	brain:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
12	CTCF	chr3:163194083-163194194	HepG2	liver:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
13	CTCF	chr3:163194120-163194270	HCFaa	heart:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
14	CTCF	chr3:163194060-163194210	HRPEpiC	eye:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
15	CTCF	chr3:163194098-163194201	HepG2	liver:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
16	CTCF	chr3:163194060-163194210	RPTEC	kidney:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
17	CTCF	chr3:163193999-163194304	K562	blood:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
18	CTCF	chr3:163194040-163194190	Caco-2	colon:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
19	CTCF	chr3:163194080-163194230	Hela-S3	cervix:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
20	CTCF	chr3:163194060-163194210	HA-sp	spinal cord:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
21	CTCF	chr3:163194040-163194190	HCT-116	colon:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
22	CTCF	chr3:163194040-163194190	WERI-Rb-1	eye:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
23	CTCF	chr3:163194056-163194190	SK-N-SH_RA	brain:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
24	CTCF	chr3:163194066-163194212	K562	blood:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
25	CTCF	chr3:163194080-163194230	BE2_C	brain:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
26	CTCF	chr3:163194100-163194250	HPAF	blood vessel:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
27	CTCF	chr3:163171827-163171898	GM20000	blood:	n/a	n/a
28	CTCF	chr3:163194040-163194190	SK-N-SH_RA	brain:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
29	CTCF	chr3:163194040-163194190	HAc	cerebellar:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
30	CTCF	chr3:163194120-163194270	HBMEC	blood vessel:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
31	CTCF	chr3:163194039-163194266	Medullo	brain:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
32	CTCF	chr3:163194060-163194210	HEEpiC	esophagus:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
33	CTCF	chr3:163193899-163194405	MCF-7	breast:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
34	CTCF	chr3:163194100-163194250	HepG2	liver:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
35	CTCF	chr3:163194129-163194159	ProgFib	skin:	n/a	n/a
36	CTCF	chr3:163194133-163194226	Pancreas_OC	pancreas:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
37	CTCF	chr3:163194059-163194246	MCF-7	breast:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
38	CTCF	chr3:163194100-163194250	MCF-7	breast:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
39	CTCF	chr3:163194080-163194230	HEK293	kidney:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
40	CTCF	chr3:163194060-163194210	HCT-116	colon:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
41	CTCF	chr3:163194040-163194190	HBMEC	blood vessel:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
42	CTCF	chr3:163194100-163194250	NB4	blood:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
43	CTCF	chr3:163190545-163190595	GM10266	blood:	n/a	n/a
44	CTCF	chr3:163194000-163194150	HMEC	breast:	n/a	n/a
45	CTCF	chr3:163194120-163194270	HEEpiC	esophagus:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
46	CTCF	chr3:163194014-163194254	LNCaP	prostate:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
47	CTCF	chr3:163194060-163194210	HCPEpiC	choroid plexus:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
48	CTCF	chr3:163194040-163194190	HPAF	blood vessel:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167
49	CTCF	chr3:163194113-163194141	GM10266	blood:	n/a	n/a
50	CTCF	chr3:163194120-163194270	HRE	kidney:	n/a	chr3:163194147-163194160 chr3:163194144-163194162 chr3:163194146-163194167

No.	Distal block	Cell Line	Cell type
1	chr3:163193915..163194594-chr3:163339922..163340818,3	MCF-7	breast:
2	chr3:163193836..163194683-chr3:163339947..163340824,6	MCF-7	breast:
3	chr3:163193734..163194832-chr3:163207697..163208413,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-3	chr3:163192855-163192939	XLOC_002898
2	lnc-OTOL1-3	chr3:163196490-163197153	XLOC_002898

Variant related genes	Relation type
ENSG00000240792	TF binding region
MEOX2	miRNA target sites

Extended variants
information (count: 483 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115761484	chr3:163166930-163166931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62293527	chr3:163166933-163166934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538200251	chr3:163166982-163166983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189886054	chr3:163166988-163166989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62293528	chr3:163166991-163166992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545723352	chr3:163167058-163167059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545730186	chr3:163167063-163167064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73025239	chr3:163167161-163167162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541556484	chr3:163167211-163167212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561773561	chr3:163167227-163167228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78269895	chr3:163167231-163167232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544158537	chr3:163167339-163167340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7616344	chr3:163167419-163167420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533645711	chr3:163167438-163167439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77042472	chr3:163167471-163167472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139350137	chr3:163167529-163167530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182416517	chr3:163167553-163167554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6769750	chr3:163167754-163167755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35960674	chr3:163167811-163167812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187027077	chr3:163167839-163167840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2711750	chr3:163167880-163167881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549322694	chr3:163167888-163167889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569300553	chr3:163167904-163167905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537975383	chr3:163168016-163168017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs63444162	chr3:163168033-163168034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541448807	chr3:163168038-163168039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190866549	chr3:163168066-163168067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557712378	chr3:163168079-163168080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371854831	chr3:163168151-163168152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115385083	chr3:163168175-163168176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533492504	chr3:163168184-163168185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374792969	chr3:163168253-163168254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144795105	chr3:163168279-163168280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62702461	chr3:163168280-163168281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368888628	chr3:163168299-163168300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371742852	chr3:163168323-163168324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201292640	chr3:163168327-163168328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74358605	chr3:163168335-163168336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182354539	chr3:163168379-163168380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575268743	chr3:163168386-163168387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544003677	chr3:163168435-163168436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564054246	chr3:163168517-163168518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142757620	chr3:163168550-163168551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540924439	chr3:163168586-163168587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2612746	chr3:163168587-163168588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529576007	chr3:163168607-163168608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs549527735	chr3:163168612-163168613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs2612745	chr3:163168653-163168654	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2711751	chr3:163168658-163168659	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551502555	chr3:163168676-163168677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163166400-163168600	Weak transcription	Aorta	Aorta
2	chr3:163168600-163169400	ZNF genes & repeats	Aorta	Aorta
3	chr3:163169400-163179400	Weak transcription	Aorta	Aorta
4	chr3:163171800-163172000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:163172800-163173200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:163172800-163173400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:163176600-163177000	Enhancers	Hela-S3	cervix
8	chr3:163177000-163177400	Active TSS	Hela-S3	cervix
9	chr3:163179200-163180000	Enhancers	Adipose Nuclei	Adipose
10	chr3:163179400-163180000	Enhancers	Aorta	Aorta

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