Variant report

Variant	nsv1005062
Chromosome Location	chr3:178929531-178942869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr3:178933277-178933584	K562	blood:	n/a	n/a
2	CEBPB	chr3:178933205-178933620	K562	blood:	n/a	chr3:178933429-178933440
3	CEBPB	chr3:178933329-178933585	IMR90	lung:	n/a	chr3:178933429-178933440
4	CEBPB	chr3:178933340-178933580	K562	blood:	n/a	chr3:178933429-178933440
5	CEBPB	chr3:178936575-178937116	K562	blood:	n/a	chr3:178936655-178936668
6	CEBPB	chr3:178933224-178933585	HepG2	liver:	n/a	chr3:178933429-178933440
7	CEBPB	chr3:178933223-178933758	Hela-S3	cervix:	n/a	chr3:178933429-178933440
8	CEBPB	chr3:178936577-178937153	IMR90	lung:	n/a	chr3:178936655-178936668
9	CEBPB	chr3:178936924-178936992	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr3:178936909-178937138	HepG2	liver:	n/a	n/a
11	CEBPB	chr3:178933378-178933567	A549	lung:	n/a	chr3:178933429-178933440
12	CEBPB	chr3:178933253-178933523	K562	blood:	n/a	chr3:178933429-178933440
13	CEBPB	chr3:178936763-178937119	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr3:178932845-178932919	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr3:178932849-178932953	K562	blood:	n/a	n/a
16	CTCF	chr3:178932840-178932990	GM12873	blood:	n/a	n/a
17	CTCF	chr3:178940380-178940530	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr3:178932700-178932850	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr3:178932826-178932989	MCF-7	breast:	n/a	n/a
20	CTCF	chr3:178940380-178940530	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr3:178932867-178932963	GM12878	blood:	n/a	n/a
22	CTCF	chr3:178932854-178932940	IMR90	lung:	n/a	n/a
23	CTCF	chr3:178932841-178932976	K562	blood:	n/a	n/a
24	CTCF	chr3:178932940-178933090	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr3:178940400-178940550	GM12871	blood:	n/a	n/a
26	CTCF	chr3:178932879-178932991	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr3:178932920-178933070	HCFaa	heart:	n/a	n/a
28	CTCF	chr3:178932847-178932981	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr3:178940380-178940530	AG04450	lung:	n/a	n/a
30	CTCF	chr3:178932720-178932870	HMEC	breast:	n/a	n/a
31	CTCF	chr3:178932820-178932970	AG09319	gingival:	n/a	n/a
32	CTCF	chr3:178932800-178932950	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr3:178932839-178932983	MCF-7	breast:	n/a	n/a
34	CTCF	chr3:178932872-178932954	GM13977	blood:	n/a	n/a
35	CTCF	chr3:178932840-178932990	HMF	breast:	n/a	n/a
36	CTCF	chr3:178932820-178932970	GM12865	blood:	n/a	n/a
37	CTCF	chr3:178932700-178932850	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr3:178940360-178940510	AG10803	skin:	n/a	n/a
39	CTCF	chr3:178940380-178940530	AG10803	skin:	n/a	n/a
40	CTCF	chr3:178940420-178940570	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr3:178940440-178940590	HMF	breast:	n/a	n/a
42	CTCF	chr3:178932860-178933010	MCF-7	breast:	n/a	n/a
43	CTCF	chr3:178932720-178932870	HAc	cerebellar:	n/a	n/a
44	CTCF	chr3:178940340-178940490	AG04450	lung:	n/a	n/a
45	CTCF	chr3:178933822-178933851	GM10248	blood:	n/a	n/a
46	CTCF	chr3:178932720-178932870	MCF-7	breast:	n/a	n/a
47	CTCF	chr3:178940400-178940550	HMF	breast:	n/a	n/a
48	CTCF	chr3:178932820-178932970	HMF	breast:	n/a	n/a
49	CUX1	chr3:178932808-178933005	K562	blood:	n/a	n/a
50	EP300	chr3:178933346-178933557	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:178896594..178898172-chr3:178937850..178940381,2	MCF-7	breast:
2	chr3:178936118..178938279-chr3:178940553..178942291,2	K562	blood:
3	chr3:178884097..178886726-chr3:178940111..178942496,2	K562	blood:
4	chr3:178865795..178867355-chr3:178932431..178934661,2	MCF-7	breast:

No data

Variant related genes	Relation type
PIK3CA	TF binding region
ENSG00000121879	chromatin interactions

Extended variants
information (count: 480 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:480 , 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	rs149851985	chr3:178929615-178929616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536988376	chr3:178929638-178929639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145792290	chr3:178929654-178929655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551457924	chr3:178929673-178929674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111336493	chr3:178929674-178929675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183714853	chr3:178929683-178929684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113304114	chr3:178929786-178929787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536617301	chr3:178929791-178929792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567804691	chr3:178929852-178929853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142868988	chr3:178929860-178929861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553145068	chr3:178929861-178929862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573010320	chr3:178929862-178929863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142206609	chr3:178929881-178929882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538948401	chr3:178929886-178929887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189381495	chr3:178929919-178929920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542387398	chr3:178929925-178929926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553048938	chr3:178929944-178929945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193114327	chr3:178929989-178929990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560646785	chr3:178930042-178930043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574234556	chr3:178930051-178930052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61796482	chr3:178930087-178930088	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369084153	chr3:178930164-178930165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61796483	chr3:178930168-178930169	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs375624865	chr3:178930173-178930174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185571225	chr3:178930180-178930181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545667266	chr3:178930206-178930207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146306657	chr3:178930255-178930256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139059688	chr3:178930258-178930259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551031824	chr3:178930340-178930341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567718854	chr3:178930341-178930342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530222932	chr3:178930348-178930349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140353995	chr3:178930349-178930350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10936992	chr3:178930352-178930353	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189995169	chr3:178930387-178930388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560614163	chr3:178930389-178930390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2945112	chr3:178930397-178930398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568860532	chr3:178930514-178930515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376323263	chr3:178930523-178930524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111708286	chr3:178930524-178930525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537438278	chr3:178930525-178930526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554153450	chr3:178930534-178930535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2865082	chr3:178930537-178930538	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540338473	chr3:178930596-178930597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3975513	chr3:178930725-178930726	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573362941	chr3:178930906-178930907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545321879	chr3:178930933-178930934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565566420	chr3:178930954-178930955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181463728	chr3:178930977-178930978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367931567	chr3:178931037-178931038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561291524	chr3:178931055-178931056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	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
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Autism	20685689	CNVD
Human papillomavirus	17975027	CNVD
Adenocarcinoma	18757405	CNVD
Lung cancer	18757405	CNVD
Squamous cell cancer	18757405	CNVD
small cell lung cancer	18757405	CNVD

Chromatin state (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178899200-178951800	Weak transcription	K562	blood
2	chr3:178900000-178929800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:178906400-178962400	Weak transcription	HepG2	liver
4	chr3:178909000-178931400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:178909000-178947000	Weak transcription	Ovary	ovary
6	chr3:178911200-178953400	Weak transcription	Gastric	stomach
7	chr3:178912400-178978600	Weak transcription	Right Ventricle	heart
8	chr3:178912600-178947800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:178913000-178930800	Weak transcription	Left Ventricle	heart
10	chr3:178913000-178948200	Weak transcription	Psoas Muscle	Psoas
11	chr3:178913200-178945200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:178913200-178947000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:178913200-178947000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:178913800-178954000	Weak transcription	Fetal Heart	heart
15	chr3:178913800-178969000	Weak transcription	Small Intestine	intestine
16	chr3:178914600-178945200	Weak transcription	HMEC	breast
17	chr3:178914800-178933400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:178914800-178941400	Weak transcription	GM12878-XiMat	blood
19	chr3:178914800-178942800	Weak transcription	NH-A	brain
20	chr3:178914800-178948000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:178914800-178972800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:178915400-178931000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:178915400-178946000	Weak transcription	Stomach Mucosa	stomach
24	chr3:178915400-178947000	Weak transcription	NHDF-Ad	bronchial
25	chr3:178915600-178947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:178915800-178965200	Weak transcription	Hela-S3	cervix
27	chr3:178916600-178932600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr3:178916800-178930000	Strong transcription	Primary B cells from cord blood	blood
29	chr3:178917200-178932200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:178917400-178932600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:178917400-178932600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:178917400-178948400	Weak transcription	Esophagus	oesophagus
33	chr3:178917600-178930000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:178917600-178931600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:178917600-178953800	Weak transcription	Colonic Mucosa	Colon
36	chr3:178918600-178931600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:178918600-178932800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:178918800-178932600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:178919800-178947000	Weak transcription	NHLF	lung
40	chr3:178920000-178947200	Weak transcription	Brain Angular Gyrus	brain
41	chr3:178920200-178931200	Weak transcription	Lung	lung
42	chr3:178920200-178947800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:178920200-178948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:178920200-178952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:178920200-178968400	Weak transcription	Spleen	Spleen
46	chr3:178921200-178948800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr3:178922200-178941400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:178922200-178945600	Weak transcription	HUVEC	blood vessel
49	chr3:178922600-178946200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr3:178923800-178933800	Strong transcription	Primary T cells fromperipheralblood	blood

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