Variant report

Variant	nsv508378
Chromosome Location	chr5:127374904-127405030
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:17)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:127395089..127397182-chr5:127418719..127420552,2	MCF-7	breast:
2	chr5:127394903..127397902-chr5:127411158..127414826,3	K562	blood:
3	chr5:127397653..127399381-chr5:127481671..127483980,2	K562	blood:
4	chr5:127373013..127375594-chr5:127416618..127419781,4	MCF-7	breast:
5	chr5:127400217..127401910-chr5:127408203..127411062,2	K562	blood:
6	chr5:127392798..127395591-chr5:127415805..127419064,4	K562	blood:
7	chr5:127389945..127392938-chr5:127400317..127402585,3	K562	blood:
8	chr5:127403809..127406017-chr5:127417878..127419640,2	MCF-7	breast:
9	chr5:127388145..127392194-chr5:127417181..127420286,4	K562	blood:
10	chr5:127395043..127397660-chr5:127418836..127421107,2	MCF-7	breast:
11	chr5:127389945..127392938-chr5:127400317..127402585,3	K562	blood:
12	chr5:127391740..127393864-chr5:127417666..127420936,3	MCF-7	breast:
13	chr5:127398879..127402387-chr5:127402863..127406529,4	MCF-7	breast:
14	chr5:127398879..127402387-chr5:127402863..127406529,4	MCF-7	breast:
15	chr5:127402829..127406387-chr5:127417400..127420194,3	K562	blood:
16	chr5:127404446..127408379-chr5:127410147..127413224,3	MCF-7	breast:
17	chr5:127388500..127392194-chr5:127417986..127422177,4	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC12A2-3	chr5:127396832-127396938	NONHSAT103639
2	lnc-SLC12A2-3	chr5:127392674-127393092	NONHSAT103639
3	lnc-FBN2-2	chr5:127396836-127396936	ENSG00000245937
4	lnc-SLC12A2-3	chr5:127395509-127396068	NONHSAT103639
5	lnc-SLC12A2-3	chr5:127386333-127386562	NONHSAT103639
6	lnc-SLC12A2-3	chr5:127397039-127397273	NONHSAT103639

No data

Variant related genes	Relation type
ENSG00000064651	chromatin interactions
ENSG00000245937	chromatin interactions
KIAA0802	miRNA target sites

Extended variants
information (count: 1039 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548993172	chr5:127374908-127374909	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs181706646	chr5:127375005-127375006	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528869497	chr5:127375037-127375038	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187074919	chr5:127375073-127375074	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191111935	chr5:127375125-127375126	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs114681313	chr5:127375137-127375138	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs562637656	chr5:127375138-127375139	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201725519	chr5:127375152-127375153	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551708672	chr5:127375153-127375154	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571430371	chr5:127375185-127375186	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536870717	chr5:127375191-127375192	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs147066922	chr5:127375244-127375245	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567689081	chr5:127375320-127375321	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181145486	chr5:127375330-127375331	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs552996264	chr5:127375334-127375335	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs186458781	chr5:127375343-127375344	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs189531250	chr5:127375356-127375357	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558845815	chr5:127375376-127375377	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575773203	chr5:127375377-127375378	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs374680818	chr5:127375383-127375384	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs531750872	chr5:127375417-127375418	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs199857355	chr5:127375446-127375447	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201193710	chr5:127375451-127375452	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550708578	chr5:127375477-127375478	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529027750	chr5:127375481-127375482	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs570554513	chr5:127375488-127375489	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs6870817	chr5:127375494-127375495	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559348936	chr5:127375515-127375516	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs59791910	chr5:127375516-127375517	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182233500	chr5:127375601-127375602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75649330	chr5:127375641-127375642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530716276	chr5:127375660-127375661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550541385	chr5:127375678-127375679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567744187	chr5:127375700-127375701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367643044	chr5:127375749-127375750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35070614	chr5:127375775-127375776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187729499	chr5:127375849-127375850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554712061	chr5:127375851-127375852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1985268	chr5:127375931-127375932	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs566501747	chr5:127375977-127375978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373801866	chr5:127376008-127376009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558808749	chr5:127376041-127376042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17164412	chr5:127376073-127376074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576952802	chr5:127376078-127376079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544790708	chr5:127376118-127376119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554820678	chr5:127376224-127376225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574988708	chr5:127376284-127376285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542708556	chr5:127376314-127376315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559509867	chr5:127376316-127376317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545774817	chr5:127376402-127376403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
2	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
3	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
5	chr5:127334600-127394000	Weak transcription	Lung	lung
6	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
7	chr5:127336800-127375000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:127343000-127380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:127353200-127397000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:127354000-127397400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:127354400-127398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:127354600-127409800	Weak transcription	Left Ventricle	heart
13	chr5:127354800-127379800	Weak transcription	Fetal Stomach	stomach
14	chr5:127356200-127399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:127356400-127379600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:127356400-127414000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:127357200-127393800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:127358000-127378400	Weak transcription	NHLF	lung
19	chr5:127358800-127389000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:127359600-127376400	Weak transcription	Ovary	ovary
21	chr5:127360400-127393800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:127366000-127389000	Weak transcription	HSMMtube	muscle
23	chr5:127367000-127378400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:127367400-127385200	Weak transcription	Primary B cells from cord blood	blood
25	chr5:127369200-127377000	Weak transcription	Primary T cells from cord blood	blood
26	chr5:127369200-127385200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:127369400-127398000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr5:127370800-127377000	Enhancers	Hela-S3	cervix
29	chr5:127371600-127379800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:127371600-127386200	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:127371600-127389000	Weak transcription	Psoas Muscle	Psoas
32	chr5:127371600-127398000	Weak transcription	Small Intestine	intestine
33	chr5:127371800-127382800	Weak transcription	GM12878-XiMat	blood
34	chr5:127372600-127375200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:127372600-127375600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:127372600-127375600	Enhancers	HMEC	breast
37	chr5:127372600-127376000	Enhancers	NHEK	skin
38	chr5:127373000-127388800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:127373000-127389000	Weak transcription	Brain Angular Gyrus	brain
40	chr5:127373400-127375200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:127373400-127375800	Enhancers	A549	lung
42	chr5:127373600-127376200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:127373600-127378400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:127373800-127375200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr5:127373800-127375200	Enhancers	NH-A	brain
46	chr5:127374000-127375200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:127374000-127379600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:127374000-127379800	Weak transcription	Gastric	stomach
49	chr5:127374200-127375200	Enhancers	HSMM	muscle
50	chr5:127374200-127375800	Enhancers	Muscle Satellite Cultured Cells	--

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