Variant report

Variant	nsv979886
Chromosome Location	chr3:143230589-143241439
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	CTCF	chr3:143233964-143234052	GM12878	blood:	n/a	n/a
2	CTCF	chr3:143233880-143234030	GM06990	blood:	n/a	n/a
3	CTCF	chr3:143240935-143241037	Lung_OC	lung:	n/a	n/a
4	CTCF	chr3:143233845-143234126	GM12878	blood:	n/a	n/a
5	E2F4	chr3:143240225-143240871	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr3:143236014-143236298	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOS	chr3:143231222-143231361	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr3:143231332-143231385	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr3:143235917-143236533	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr3:143240212-143240412	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr3:143237008-143237140	ProgFib	skin:	n/a	n/a
12	REST	chr3:143235954-143236388	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr3:143235951-143236353	H1-hESC	embryonic stem cell:	n/a	n/a
14	SP1	chr3:143235944-143236292	HepG2	liver:	n/a	chr3:143236163-143236174
15	SP1	chr3:143235921-143236339	H1-hESC	embryonic stem cell:	n/a	chr3:143236163-143236174
16	STAT3	chr3:143233143-143233272	MCF10A-Er-Src	breast:	n/a	n/a
17	TCF12	chr3:143236013-143236371	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr3:143235874-143236407	H1-hESC	embryonic stem cell:	n/a	n/a
19	TEAD4	chr3:143236020-143236311	HepG2	liver:	n/a	n/a
20	TEAD4	chr3:143235928-143236428	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr3:143235985-143236200	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr3:143235933-143236336	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZBTB33	chr3:143236388-143236649	GM12878	blood:	n/a	n/a
24	ZBTB33	chr3:143236230-143236512	K562	blood:	n/a	n/a

Variant related genes	Relation type
ST13P15	TF binding region

Extended variants
information (count: 461 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:461 , 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	rs72991963	chr3:143230664-143230665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541132109	chr3:143230670-143230671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74388654	chr3:143230672-143230673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533493499	chr3:143230680-143230681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7626484	chr3:143230709-143230710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546384420	chr3:143230753-143230754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563911130	chr3:143230771-143230772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376083172	chr3:143230815-143230816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549652484	chr3:143230888-143230889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115007158	chr3:143230909-143230910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386666584	chr3:143230920-143230921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114682789	chr3:143230922-143230923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115140292	chr3:143230924-143230925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538390052	chr3:143230952-143230953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558422838	chr3:143230989-143230990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564989285	chr3:143231000-143231001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576786445	chr3:143231045-143231046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532575271	chr3:143231068-143231069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67623556	chr3:143231094-143231095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575102673	chr3:143231110-143231111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72991965	chr3:143231111-143231112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554865057	chr3:143231121-143231122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78609780	chr3:143231138-143231139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75866098	chr3:143231158-143231159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72991966	chr3:143231182-143231183	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs578136857	chr3:143231204-143231205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72991967	chr3:143231223-143231224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs372754918	chr3:143231225-143231226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563824711	chr3:143231226-143231227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531148502	chr3:143231232-143231233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs137962129	chr3:143231303-143231304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184524795	chr3:143231343-143231344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529616039	chr3:143231381-143231382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6805451	chr3:143231396-143231397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546567737	chr3:143231402-143231403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570921089	chr3:143231405-143231406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6781492	chr3:143231413-143231414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs62269767	chr3:143231448-143231449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568677407	chr3:143231457-143231458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188190860	chr3:143231467-143231468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527239010	chr3:143231488-143231489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554496443	chr3:143231490-143231491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367734319	chr3:143231501-143231502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566753885	chr3:143231508-143231509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111987416	chr3:143231513-143231514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111743474	chr3:143231528-143231529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148251930	chr3:143231537-143231538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111408913	chr3:143231547-143231548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557503874	chr3:143231578-143231579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186683565	chr3:143231579-143231580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143191400-143231000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:143212600-143247400	Weak transcription	Primary T cells from cord blood	blood
3	chr3:143223000-143256200	Weak transcription	Esophagus	oesophagus
4	chr3:143227200-143244400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:143227400-143233200	Weak transcription	Fetal Kidney	kidney
6	chr3:143227800-143231000	Weak transcription	Osteobl	bone
7	chr3:143228000-143230800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:143228000-143231400	Weak transcription	NHDF-Ad	bronchial
9	chr3:143228000-143243600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:143228600-143236200	Weak transcription	HSMMtube	muscle
11	chr3:143228600-143244000	Weak transcription	HSMM	muscle
12	chr3:143228800-143230800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:143228800-143233200	Weak transcription	Dnd41	blood
14	chr3:143229600-143230600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:143230000-143230600	Enhancers	Pancreas	Pancrea
16	chr3:143230000-143231000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:143230000-143231000	Enhancers	Duodenum Mucosa	Duodenum
18	chr3:143230800-143231000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:143230800-143232000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr3:143231000-143231600	Enhancers	Osteobl	bone
21	chr3:143231000-143233400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:143233200-143234000	Enhancers	Fetal Kidney	kidney
23	chr3:143233200-143240800	Enhancers	Dnd41	blood
24	chr3:143233400-143234000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:143233400-143234000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:143233400-143234000	Enhancers	Fetal Thymus	thymus
27	chr3:143236200-143236400	Enhancers	HSMMtube	muscle
28	chr3:143236400-143237200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:143237000-143238600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:143238400-143239400	Enhancers	Primary B cells from peripheral blood	blood
31	chr3:143238600-143239200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr3:143239200-143255200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr3:143239400-143244800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr3:143240800-143241000	Flanking Active TSS	Dnd41	blood
35	chr3:143241000-143241200	Enhancers	Dnd41	blood
36	chr3:143241200-143241400	Flanking Active TSS	Dnd41	blood
37	chr3:143241400-143245000	Enhancers	Dnd41	blood

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