Variant report

Variant	nsv536786
Chromosome Location	chr3:162772645-162894644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:504)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr3:162774855-162774871	HepG2	liver:	n/a	n/a
2	BRCA1	chr3:162774683-162774995	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr3:162773968-162774176	HepG2	liver:	n/a	chr3:162774022-162774033
4	CEBPB	chr3:162856075-162856324	MCF-7	breast:	n/a	n/a
5	CEBPB	chr3:162815303-162815572	A549	lung:	n/a	chr3:162815435-162815446
6	CEBPB	chr3:162815267-162815649	MCF-7	breast:	n/a	chr3:162815435-162815446
7	CEBPB	chr3:162815287-162815558	IMR90	lung:	n/a	chr3:162815435-162815446
8	CEBPB	chr3:162893798-162893837	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr3:162774587-162774998	MCF-7	breast:	n/a	n/a
10	CEBPB	chr3:162774571-162774995	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr3:162815262-162815596	HepG2	liver:	n/a	chr3:162815435-162815446
12	CEBPB	chr3:162789480-162789977	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr3:162774590-162774941	A549	lung:	n/a	n/a
14	CEBPB	chr3:162774594-162775003	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr3:162774160-162774310	GM12872	blood:	n/a	n/a
16	CTCF	chr3:162774593-162775060	IMR90	lung:	n/a	n/a
17	CTCF	chr3:162887978-162888033	GM13976	blood:	n/a	n/a
18	CTCF	chr3:162774800-162774950	HPF	lung:	n/a	n/a
19	CTCF	chr3:162774800-162774950	SAEC	small airway:	n/a	n/a
20	CTCF	chr3:162774800-162774950	GM06990	blood:	n/a	n/a
21	CTCF	chr3:162774780-162774930	RPTEC	kidney:	n/a	n/a
22	CTCF	chr3:162774780-162774930	HRE	kidney:	n/a	n/a
23	CTCF	chr3:162774786-162774929	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr3:162774140-162774290	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr3:162774739-162774986	K562	blood:	n/a	n/a
26	CTCF	chr3:162774780-162774930	Caco-2	colon:	n/a	n/a
27	CTCF	chr3:162774780-162774930	HepG2	liver:	n/a	n/a
28	CTCF	chr3:162843680-162843830	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr3:162774740-162774890	GM12867	blood:	n/a	n/a
30	CTCF	chr3:162824920-162825070	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:162774820-162774970	GM06990	blood:	n/a	n/a
32	CTCF	chr3:162791873-162791967	MCF-7	breast:	n/a	n/a
33	CTCF	chr3:162774359-162775235	A549	lung:	n/a	n/a
34	CTCF	chr3:162774760-162774910	GM12868	blood:	n/a	n/a
35	CTCF	chr3:162774760-162774910	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr3:162774780-162774930	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr3:162774820-162774970	GM12868	blood:	n/a	n/a
38	CTCF	chr3:162774488-162775188	SK-N-SH	brain:	n/a	n/a
39	CTCF	chr3:162774686-162775054	K562	blood:	n/a	n/a
40	CTCF	chr3:162888037-162888039	GM13976	blood:	n/a	n/a
41	CTCF	chr3:162804847-162804880	MCF-7	breast:	n/a	n/a
42	CTCF	chr3:162774772-162774929	A549	lung:	n/a	n/a
43	CTCF	chr3:162774820-162774970	HVMF	connective:	n/a	n/a
44	CTCF	chr3:162774780-162774930	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr3:162777084-162777117	LNCaP	prostate:	n/a	n/a
46	CTCF	chr3:162774800-162774950	NHEK	skin:	n/a	n/a
47	CTCF	chr3:162774743-162774952	T-47D	breast:	n/a	n/a
48	CTCF	chr3:162774754-162774965	HepG2	liver:	n/a	n/a
49	CTCF	chr3:162774780-162774930	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr3:162775160-162775310	GM12866	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:162774576..162775267-chr3:162991199..162992106,3	MCF-7	breast:
2	chr3:162829065..162831690-chr3:162831998..162834078,2	MCF-7	breast:
3	chr3:162821263..162822976-chr3:162826872..162828945,2	MCF-7	breast:
4	chr3:162781747..162783965-chr3:162788037..162790015,2	MCF-7	breast:
5	chr3:162774415..162775478-chr3:163207241..163208645,5	MCF-7	breast:
6	chr3:162781747..162783965-chr3:162788037..162790015,2	MCF-7	breast:
7	chr2:174218936..174220527-chr3:162835384..162836884,2	K562	blood:
8	chr3:156892021..156894345-chr3:162787273..162789725,2	MCF-7	breast:
9	chr3:162821263..162822976-chr3:162826872..162828945,2	MCF-7	breast:
10	chr3:162776529..162777484-chr3:163340191..163340771,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-9	chr3:162833217-162833974	NONHSAT093027
2	lnc-SI-4	chr3:162845711-162845859	ENSG00000241369

No data

Variant related genes	Relation type
ENSG00000244571	TF binding region
ENSG00000144354	chromatin interactions
ENSG00000244571	chromatin interactions
ENSG00000243176	chromatin interactions

Extended variants
information (count: 1069 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1069 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115542597	chr3:162775012-162775013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150507310	chr3:162775013-162775014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73018909	chr3:162775075-162775076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527328312	chr3:162775084-162775085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367963894	chr3:162775096-162775097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547077961	chr3:162775136-162775137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116108997	chr3:162775190-162775191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186512911	chr3:162775193-162775194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535976180	chr3:162775195-162775196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73018910	chr3:162775218-162775219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs75651074	chr3:162775222-162775223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539217382	chr3:162775242-162775243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566089489	chr3:162775266-162775267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572772928	chr3:162775272-162775273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535275620	chr3:162775278-162775279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554675427	chr3:162775316-162775317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191360372	chr3:162775319-162775320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543576048	chr3:162775339-162775340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563420091	chr3:162775350-162775351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575866987	chr3:162775358-162775359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139481243	chr3:162775387-162775388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6419709	chr3:162775390-162775391	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs368754517	chr3:162775394-162775395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183552897	chr3:162775405-162775406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368603870	chr3:162775447-162775448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7621784	chr3:162775499-162775500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs6419710	chr3:162775513-162775514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371859943	chr3:162775522-162775523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569755815	chr3:162775523-162775524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537137362	chr3:162775532-162775533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532798677	chr3:162775582-162775583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552807364	chr3:162775607-162775608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186853755	chr3:162775622-162775623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149686922	chr3:162775627-162775628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147790321	chr3:162775631-162775632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370909311	chr3:162775638-162775639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139573886	chr3:162775667-162775668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537439023	chr3:162775698-162775699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557074597	chr3:162775703-162775704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576922624	chr3:162775707-162775708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539877679	chr3:162775717-162775718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545848753	chr3:162775738-162775739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145192083	chr3:162775764-162775765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191090101	chr3:162775816-162775817	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs573724062	chr3:162775832-162775833	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540991099	chr3:162775859-162775860	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs561218957	chr3:162775916-162775917	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs368810998	chr3:162775929-162775930	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs116162480	chr3:162775958-162775959	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563227763	chr3:162775976-162775977	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162775000-162776400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:162775400-162775800	Enhancers	Colon Smooth Muscle	Colon
3	chr3:162775400-162776000	Enhancers	Stomach Smooth Muscle	stomach
4	chr3:162775600-162776200	Enhancers	Adipose Nuclei	Adipose
5	chr3:162775600-162776400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:162775600-162776600	Enhancers	Fetal Stomach	stomach
7	chr3:162775600-162776600	Enhancers	Rectal Smooth Muscle	rectum
8	chr3:162775800-162776200	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr3:162776000-162776200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr3:162776000-162776400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:162776000-162776600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:162776000-162776600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:162776200-162776600	Enhancers	Fetal Lung	lung
14	chr3:162776200-162776600	Enhancers	Fetal Muscle Leg	muscle
15	chr3:162776200-162776600	Active TSS	Stomach Smooth Muscle	stomach
16	chr3:162776200-162776800	Enhancers	Colon Smooth Muscle	Colon
17	chr3:162776600-162777600	Weak transcription	Fetal Stomach	stomach
18	chr3:162777600-162777800	Enhancers	Fetal Stomach	stomach
19	chr3:162789000-162789600	Enhancers	Hela-S3	cervix
20	chr3:162789400-162789600	Weak transcription	Aorta	Aorta
21	chr3:162789400-162789800	Enhancers	Fetal Lung	lung
22	chr3:162789600-162789800	Enhancers	Aorta	Aorta
23	chr3:162789800-162790800	Weak transcription	Aorta	Aorta
24	chr3:162790600-162792200	ZNF genes & repeats	Dnd41	blood
25	chr3:162790800-162792000	ZNF genes & repeats	Aorta	Aorta
26	chr3:162791000-162792000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:162791200-162792000	ZNF genes & repeats	Spleen	Spleen
28	chr3:162791800-162792000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:162791800-162792000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:162791800-162792000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:162825000-162825200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:162825200-162825800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:162825200-162825800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:162825200-162825800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:162825200-162826000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr3:162825200-162826000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:162825800-162826000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr3:162825800-162828800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:162841000-162841600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:162841600-162844400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:162841800-162842200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:162842200-162843000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:162843000-162843800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr3:162843000-162845000	ZNF genes & repeats	Dnd41	blood
45	chr3:162843400-162844400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:162844000-162844600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr3:162844000-162845000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr3:162847000-162847400	ZNF genes & repeats	Dnd41	blood
49	chr3:162847200-162847400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:162858000-162858800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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