Variant report

Variant	esv1007699
Chromosome Location	chr3:158263005-158269833
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:158269405..158273514-chr3:158275272..158279409,4	K562	blood:
2	chr3:158264437..158266302-chr3:158268722..158271575,2	K562	blood:
3	chr3:158264437..158266302-chr3:158268722..158271575,2	K562	blood:
4	chr3:158263753..158266512-chr3:158362463..158365229,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LXN-1	chr3:158263009-158263366	ENSG00000243150
2	lnc-LXN-1	chr3:158263191-158263366	NONHSAT092926
3	lnc-LXN-1	chr3:158262555-158263366	NONHSAT092927

No data

Variant related genes	Relation type
ENSG00000168827	chromatin interactions
GEN1	miRNA target sites

Extended variants
information (count: 258 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71663451	chr3:158263007-158263008	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs58161840	chr3:158263008-158263009	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs12494926	chr3:158263035-158263036	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs200753305	chr3:158263053-158263054	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs189627061	chr3:158263076-158263077	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs377200871	chr3:158263091-158263092	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs181109377	chr3:158263094-158263095	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs549254443	chr3:158263095-158263096	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs1656365	chr3:158263098-158263099	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566649157	chr3:158263136-158263137	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs534033059	chr3:158263138-158263139	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs12491598	chr3:158263154-158263155	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs146515672	chr3:158263225-158263226	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs574594874	chr3:158263248-158263249	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs56019754	chr3:158263264-158263265	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs562863816	chr3:158263278-158263279	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs564509735	chr3:158263394-158263395	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535526524	chr3:158263408-158263409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533379020	chr3:158263493-158263494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556952031	chr3:158263530-158263531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145412460	chr3:158263541-158263542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575628203	chr3:158263549-158263550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545855999	chr3:158263553-158263554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564846525	chr3:158263615-158263616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546502828	chr3:158263655-158263656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553203955	chr3:158263665-158263666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78758605	chr3:158263666-158263667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540831320	chr3:158263709-158263710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562219819	chr3:158263761-158263762	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs80303048	chr3:158263800-158263801	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539884390	chr3:158263873-158263874	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372244551	chr3:158263874-158263875	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9870244	chr3:158263882-158263883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1714510	chr3:158263884-158263885	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs551077666	chr3:158263889-158263890	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376760534	chr3:158263898-158263899	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs566766120	chr3:158263925-158263926	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1714511	chr3:158263941-158263942	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs548786473	chr3:158263947-158263948	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567087487	chr3:158263954-158263955	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537633934	chr3:158263970-158263971	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543420017	chr3:158264031-158264032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557060532	chr3:158264041-158264042	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs576542069	chr3:158264051-158264052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529423744	chr3:158264056-158264057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549593211	chr3:158264080-158264081	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs555380935	chr3:158264102-158264103	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188027370	chr3:158264140-158264141	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539861929	chr3:158264153-158264154	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557828011	chr3:158264207-158264208	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158249400-158264400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:158252600-158267400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr3:158255200-158263800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:158256200-158264600	Weak transcription	Primary T cells from cord blood	blood
5	chr3:158256600-158280000	Weak transcription	K562	blood
6	chr3:158257800-158268000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:158258000-158265000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:158258000-158265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:158258000-158268600	Weak transcription	Pancreas	Pancrea
10	chr3:158258200-158268200	Weak transcription	Adipose Nuclei	Adipose
11	chr3:158259600-158267600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr3:158259800-158264600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:158259800-158266000	Weak transcription	NHDF-Ad	bronchial
14	chr3:158259800-158267400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:158259800-158270000	Weak transcription	Ovary	ovary
16	chr3:158260000-158279200	Weak transcription	Left Ventricle	heart
17	chr3:158260400-158270600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:158261200-158266800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr3:158261400-158264800	Weak transcription	Aorta	Aorta
20	chr3:158261400-158265400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:158261800-158265600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:158261800-158266400	Weak transcription	A549	lung
23	chr3:158262200-158263400	Enhancers	Fetal Heart	heart
24	chr3:158262200-158264800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:158262400-158269400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:158262600-158265200	Weak transcription	Psoas Muscle	Psoas
27	chr3:158262600-158267600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr3:158262600-158268200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:158262800-158264200	Weak transcription	Dnd41	blood
30	chr3:158262800-158264600	Weak transcription	Primary B cells from cord blood	blood
31	chr3:158262800-158267200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr3:158263000-158263200	Enhancers	Placenta	Placenta
33	chr3:158263000-158267000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:158263000-158269200	Weak transcription	Liver	Liver
35	chr3:158263600-158267200	Weak transcription	Esophagus	oesophagus
36	chr3:158264200-158266600	Strong transcription	Dnd41	blood
37	chr3:158264200-158267400	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:158264400-158265200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:158264600-158265800	Strong transcription	Primary T cells from cord blood	blood
40	chr3:158264600-158266000	Strong transcription	Primary B cells from cord blood	blood
41	chr3:158264800-158265000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:158264800-158265200	Strong transcription	Aorta	Aorta
43	chr3:158264800-158267000	Enhancers	Fetal Lung	lung
44	chr3:158265000-158265600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:158265000-158265800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:158265200-158268800	Weak transcription	Aorta	Aorta
47	chr3:158265200-158269600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:158265600-158265800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:158265600-158267000	Enhancers	Fetal Stomach	stomach
50	chr3:158265800-158267800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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