Variant report

Variant	nsv877345
Chromosome Location	chr3:112826253-112848851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:112841500..112843194-chr3:112847365..112849166,2	MCF-7	breast:
2	chr3:112841276..112843534-chr3:112843795..112845734,2	MCF-7	breast:
3	chr3:112838001..112839541-chr3:112853891..112856823,2	MCF-7	breast:
4	chr3:112831326..112834195-chr3:112837438..112839554,2	K562	blood:
5	chr3:112841500..112843194-chr3:112847365..112849166,2	MCF-7	breast:
6	chr3:112841276..112843534-chr3:112843795..112845734,2	MCF-7	breast:
7	chr3:112831326..112834195-chr3:112837438..112839554,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTPBP8-1	chr3:112828949-112829322	ENSG00000240057.1
2	lnc-GTPBP8-1	chr3:112827331-112827380	NONHSAT091210

No data

Extended variants
information (count: 987 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:987 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1797626	chr3:112826253-112826254	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570815214	chr3:112826273-112826274	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114040397	chr3:112826284-112826285	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545060071	chr3:112826292-112826293	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553238183	chr3:112826318-112826319	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376819894	chr3:112826404-112826405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1797625	chr3:112826415-112826416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550638478	chr3:112826418-112826419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75116972	chr3:112826422-112826423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542799569	chr3:112826453-112826454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560936100	chr3:112826476-112826477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1795169	chr3:112826512-112826513	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546883333	chr3:112826531-112826532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12639091	chr3:112826622-112826623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1797624	chr3:112826630-112826631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1795170	chr3:112826662-112826663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1797623	chr3:112826681-112826682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs569330916	chr3:112826699-112826700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9880692	chr3:112826706-112826707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536385435	chr3:112826717-112826718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184215364	chr3:112826719-112826720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113061548	chr3:112826807-112826808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189671547	chr3:112826847-112826848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60169116	chr3:112826853-112826854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566953296	chr3:112826875-112826876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201275149	chr3:112826882-112826883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369528997	chr3:112826883-112826884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148250583	chr3:112826890-112826891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545020530	chr3:112826895-112826896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376830129	chr3:112826912-112826913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577899119	chr3:112826913-112826914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542362243	chr3:112826916-112826917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561109188	chr3:112826930-112826931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57995695	chr3:112826966-112826967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35237488	chr3:112826983-112826984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371353576	chr3:112827016-112827017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34197601	chr3:112827089-112827090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564814991	chr3:112827143-112827144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532318056	chr3:112827155-112827156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368849804	chr3:112827158-112827159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140385033	chr3:112827168-112827169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543824239	chr3:112827201-112827202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145589267	chr3:112827203-112827204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs137881290	chr3:112827204-112827205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548412769	chr3:112827240-112827241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567033924	chr3:112827242-112827243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534373372	chr3:112827246-112827247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184647213	chr3:112827331-112827332	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs386664747	chr3:112827335-112827336	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs112455344	chr3:112827336-112827337	Weak transcription Enhancers	lncRNA	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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112808800-112832400	Weak transcription	Primary T cells from cord blood	blood
2	chr3:112819400-112830400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:112822000-112826400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:112822200-112829400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:112823200-112826600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:112823400-112827600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:112823400-112827600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:112824200-112828000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:112824200-112828800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:112824200-112829800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:112824400-112828000	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:112824400-112829400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:112824600-112829200	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:112825000-112828000	Weak transcription	Ovary	ovary
15	chr3:112825000-112829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:112825000-112829600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:112825000-112829800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:112825200-112829800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:112825600-112829400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:112825800-112827000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:112825800-112828200	Weak transcription	Fetal Stomach	stomach
22	chr3:112825800-112829400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:112826000-112826400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:112826000-112832200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:112826200-112829800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:112826400-112826600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:112826600-112827600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:112827000-112828600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr3:112827600-112827800	Enhancers	HMEC	breast
30	chr3:112827600-112828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:112827600-112828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:112827600-112828200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:112827600-112830400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:112827800-112828200	Enhancers	NHEK	skin
35	chr3:112828000-112828200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:112828000-112828200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:112828000-112829800	Weak transcription	HMEC	breast
38	chr3:112828000-112830000	Enhancers	Ovary	ovary
39	chr3:112828000-112830200	Enhancers	Fetal Thymus	thymus
40	chr3:112828000-112830400	Enhancers	Fetal Muscle Leg	muscle
41	chr3:112828200-112828400	Enhancers	Fetal Stomach	stomach
42	chr3:112828200-112829200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:112828200-112830000	Weak transcription	NHEK	skin
44	chr3:112828200-112836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:112828400-112828800	Weak transcription	Fetal Stomach	stomach
46	chr3:112828600-112829800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:112828800-112830000	Enhancers	Fetal Muscle Trunk	muscle
48	chr3:112828800-112830200	Enhancers	Fetal Stomach	stomach
49	chr3:112829200-112829400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:112829200-112829600	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links