Variant report

Variant	nsv877557
Chromosome Location	chr3:142090402-142150204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:142126422-142126682	IMR90	lung:	n/a	n/a
2	CEBPB	chr3:142122865-142122976	A549	lung:	n/a	n/a
3	CEBPB	chr3:142101000-142101295	IMR90	lung:	n/a	chr3:142101135-142101146
4	CEBPB	chr3:142126449-142126618	HepG2	liver:	n/a	n/a
5	CEBPB	chr3:142122790-142123086	HepG2	liver:	n/a	n/a
6	CEBPB	chr3:142119341-142119722	MCF-7	breast:	n/a	n/a
7	CEBPB	chr3:142126449-142126685	K562	blood:	n/a	n/a
8	CEBPB	chr3:142100993-142101197	A549	lung:	n/a	chr3:142101135-142101146
9	CEBPB	chr3:142100988-142101222	HepG2	liver:	n/a	chr3:142101135-142101146
10	CTCF	chr3:142148674-142148747	GM13976	blood:	n/a	n/a
11	CTCF	chr3:142139820-142139970	MCF-7	breast:	n/a	n/a
12	CTCF	chr3:142099240-142099390	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr3:142126918-142127085	GM12878	blood:	n/a	n/a
14	CTCF	chr3:142116975-142117090	GM10248	blood:	n/a	n/a
15	CTCF	chr3:142149560-142149710	A549	lung:	n/a	n/a
16	CTCF	chr3:142139880-142140030	A549	lung:	n/a	n/a
17	CTCF	chr3:142099823-142099895	Kidney_OC	kidney:	n/a	n/a
18	CUX1	chr3:142095708-142095782	GM12878	blood:	n/a	n/a
19	E2F4	chr3:142125701-142125773	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr3:142141462-142141612	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr3:142094185-142094365	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr3:142123735-142123935	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr3:142102375-142102414	GM12878	blood:	n/a	n/a
24	FOS	chr3:142101068-142101237	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr3:142119391-142119673	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr3:142143763-142143950	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr3:142119377-142119643	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr3:142101038-142101218	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr3:142143736-142143909	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr3:142119474-142119686	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr3:142143720-142143949	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr3:142119474-142119580	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr3:142143763-142143915	MCF10A-Er-Src	breast:	n/a	n/a
34	FOSL2	chr3:142119314-142119703	HepG2	liver:	n/a	chr3:142119514-142119525
35	FOSL2	chr3:142119390-142119647	HepG2	liver:	n/a	chr3:142119514-142119525
36	FOSL2	chr3:142119289-142119700	MCF-7	breast:	n/a	chr3:142119514-142119525
37	FOXA1	chr3:142119409-142119713	HepG2	liver:	n/a	n/a
38	FOXA1	chr3:142119370-142119791	HepG2	liver:	n/a	n/a
39	FOXA1	chr3:142119266-142119782	HepG2	liver:	n/a	n/a
40	FOXA1	chr3:142119265-142119638	HepG2	liver:	n/a	n/a
41	FOXA1	chr3:142138033-142138244	T-47D	breast:	n/a	n/a
42	FOXA1	chr3:142103800-142104283	T-47D	breast:	n/a	n/a
43	FOXA1	chr3:142136026-142136518	HepG2	liver:	n/a	chr3:142136164-142136176
44	FOXA1	chr3:142093062-142093314	T-47D	breast:	n/a	chr3:142093222-142093237
45	FOXA1	chr3:142103861-142104049	T-47D	breast:	n/a	n/a
46	FOXA1	chr3:142136078-142136432	HepG2	liver:	n/a	chr3:142136164-142136176
47	FOXA1	chr3:142136231-142136427	HepG2	liver:	n/a	n/a
48	FOXA2	chr3:142119346-142119665	HepG2	liver:	n/a	n/a
49	FOXA2	chr3:142136217-142136483	HepG2	liver:	n/a	n/a
50	GATA3	chr3:142119272-142119838	MCF-7	breast:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:142115156..142117920-chr3:142121507..142123536,2	K562	blood:
2	chr3:142121474..142124130-chr3:142126023..142128529,2	MCF-7	breast:
3	chr3:142101830..142104324-chr3:142111923..142114107,2	MCF-7	breast:
4	chr3:142085810..142087706-chr3:142095793..142098136,2	K562	blood:
5	chr3:142089971..142093196-chr3:142095557..142099193,3	K562	blood:
6	chr3:142116420..142117922-chr3:142120653..142123536,2	K562	blood:
7	chr3:142146723..142149402-chr3:142165233..142167666,2	K562	blood:
8	chr3:142114882..142116518-chr3:142121327..142122867,2	MCF-7	breast:
9	chr3:142089971..142093196-chr3:142095557..142099193,3	K562	blood:
10	chr3:142145296..142147116-chr3:142150982..142153061,2	MCF-7	breast:
11	chr3:142090981..142093702-chr3:142096460..142098361,2	K562	blood:
12	chr3:142116420..142117922-chr3:142120653..142123536,2	K562	blood:
13	chr3:142101830..142104324-chr3:142111923..142114107,2	MCF-7	breast:
14	chr3:142123276..142126061-chr3:142126798..142129776,3	K562	blood:
15	chr3:142115156..142117920-chr3:142121507..142123536,2	K562	blood:
16	chr3:142090981..142093702-chr3:142096460..142098361,2	K562	blood:
17	chr3:142131465..142133801-chr3:142135541..142137461,2	K562	blood:
18	chr3:142123276..142126061-chr3:142126798..142129776,3	K562	blood:
19	chr3:142120078..142121994-chr3:142131603..142134046,2	K562	blood:
20	chr3:142114882..142116518-chr3:142121327..142122867,2	MCF-7	breast:
21	chr3:142085151..142088133-chr3:142116626..142119405,2	MCF-7	breast:
22	chr3:142140796..142143669-chr3:142143839..142146519,3	K562	blood:
23	chr3:142142395..142144953-chr3:142145162..142147972,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	XRN1	hsa-miR-335-5p	chr3:142095217-142095241
2	XRN1	hsa-let-7b-5p	chr3:142136689-142136711

Variant related genes	Relation type
XRN1	TF binding region
RNU6-1294P	TF binding region
RNU1-100P	TF binding region
ENSG00000114127	chromatin interactions
ENSG00000251804	chromatin interactions

Extended variants
information (count: 2153 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2153 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2306698	chr3:142090402-142090403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532973608	chr3:142090452-142090453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569814026	chr3:142090499-142090500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145306404	chr3:142090540-142090541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113444666	chr3:142090566-142090567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77176853	chr3:142090595-142090596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374515055	chr3:142090602-142090603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542127404	chr3:142090616-142090617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189769901	chr3:142090630-142090631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572017731	chr3:142090701-142090702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545803904	chr3:142090730-142090731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564214587	chr3:142090770-142090771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531419192	chr3:142090844-142090845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13075933	chr3:142090867-142090868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180705636	chr3:142090868-142090869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374995824	chr3:142090913-142090914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186348127	chr3:142090980-142090981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529421391	chr3:142091005-142091006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548081701	chr3:142091045-142091046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191398916	chr3:142091051-142091052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183585668	chr3:142091058-142091059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142542839	chr3:142091080-142091081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113748170	chr3:142091084-142091085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537161769	chr3:142091093-142091094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139393073	chr3:142091114-142091115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371333375	chr3:142091154-142091155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141944752	chr3:142091166-142091167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143042279	chr3:142091234-142091235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544861765	chr3:142091252-142091253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554076171	chr3:142091266-142091267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572366892	chr3:142091279-142091280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371669277	chr3:142091300-142091301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34034787	chr3:142091310-142091311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374001732	chr3:142091328-142091329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557803975	chr3:142091359-142091360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79421176	chr3:142091364-142091365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543546149	chr3:142091396-142091397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561590545	chr3:142091427-142091428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574219249	chr3:142091428-142091429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147051103	chr3:142091430-142091431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541264337	chr3:142091449-142091450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560025165	chr3:142091454-142091455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533428674	chr3:142091497-142091498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551622728	chr3:142091503-142091504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563360639	chr3:142091515-142091516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141184503	chr3:142091516-142091517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150747229	chr3:142091557-142091558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187454889	chr3:142091577-142091578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367902320	chr3:142091590-142091591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535685783	chr3:142091702-142091703	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Lung cancer	16740712	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1779 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142030600-142091400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:142046400-142112400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:142051800-142093000	Weak transcription	Hela-S3	cervix
4	chr3:142057400-142111400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr3:142059400-142111400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:142060800-142111200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr3:142061800-142092200	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr3:142062000-142092000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:142063600-142097200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:142063600-142104200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr3:142063600-142104600	Strong transcription	Placenta	Placenta
12	chr3:142063600-142111200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:142064200-142092000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:142064600-142111400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr3:142066800-142115000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:142072400-142114600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:142074000-142091600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:142074000-142113800	Weak transcription	HMEC	breast
19	chr3:142074200-142091200	Weak transcription	Esophagus	oesophagus
20	chr3:142074600-142104000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:142075800-142101000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:142075800-142103600	Weak transcription	HSMMtube	muscle
23	chr3:142076000-142100800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:142076000-142103800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:142076000-142136400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:142076200-142101200	Weak transcription	Brain Substantia Nigra	brain
27	chr3:142076200-142104200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:142076600-142093200	Weak transcription	Brain Anterior Caudate	brain
29	chr3:142076800-142091000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:142076800-142091000	Weak transcription	Pancreas	Pancrea
31	chr3:142076800-142091000	Weak transcription	Psoas Muscle	Psoas
32	chr3:142076800-142091200	Weak transcription	Brain Germinal Matrix	brain
33	chr3:142076800-142094400	Weak transcription	Colonic Mucosa	Colon
34	chr3:142076800-142106000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:142076800-142106400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:142076800-142106600	Weak transcription	Spleen	Spleen
37	chr3:142076800-142120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:142076800-142138200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:142077000-142091200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:142077200-142091000	Weak transcription	Aorta	Aorta
41	chr3:142077200-142106000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:142078400-142091000	Weak transcription	Right Ventricle	heart
43	chr3:142078800-142103600	Weak transcription	Fetal Heart	heart
44	chr3:142080000-142093000	Weak transcription	HSMM	muscle
45	chr3:142080000-142114000	Weak transcription	NHLF	lung
46	chr3:142080600-142090800	Weak transcription	Brain Hippocampus Middle	brain
47	chr3:142081800-142092000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:142083200-142091000	Weak transcription	Ovary	ovary
49	chr3:142083200-142093600	Weak transcription	Brain Angular Gyrus	brain
50	chr3:142083200-142106600	Weak transcription	Gastric	stomach

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