Variant report

Variant	esv2763489
Chromosome Location	chr5:115693166-115733327
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:10)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:115711711..115714418-chr5:115718644..115720507,2	K562	blood:
2	chr5:115704428..115706706-chr5:115709540..115711421,2	MCF-7	breast:
3	chr5:115714143..115716016-chr5:115739014..115740918,2	K562	blood:
4	chr5:115693595..115697814-chr5:115698835..115703078,5	K562	blood:
5	chr5:115685651..115688638-chr5:115690874..115693480,2	K562	blood:
6	chr5:115693595..115697814-chr5:115698835..115703078,5	K562	blood:
7	chr5:115692236..115694986-chr5:115697167..115699493,2	MCF-7	breast:
8	chr5:115692236..115694986-chr5:115697167..115699493,2	MCF-7	breast:
9	chr5:115711711..115714418-chr5:115718644..115720507,2	K562	blood:
10	chr5:115704428..115706706-chr5:115709540..115711421,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA6A-1	chr5:115708676-115708786	NONHSAT103361
2	lnc-SEMA6A-1	chr5:115710179-115710267	NONHSAT103361
3	lnc-LVRN.1-4	chr5:115717975-115718151	NONHSAT103358
4	lnc-SEMA6A-1	chr5:115708676-115708786	ENSG00000249280
5	lnc-SEMA6A-1	chr5:115710179-115710267	ENSG00000249280
6	lnc-SEMA6A-1	chr5:115703287-115706170	ENSG00000249280
7	lnc-SEMA6A-1	chr5:115703113-115706170	NONHSAT103361

No data

Variant related genes	Relation type
USP15	miRNA target sites
BBC3	miRNA target sites
ACACA	miRNA target sites

Extended variants
information (count: 1838 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1838 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7727761	chr5:115693166-115693167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561043784	chr5:115693174-115693175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552380589	chr5:115693180-115693181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530253803	chr5:115693198-115693199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543926084	chr5:115693252-115693253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201780849	chr5:115693253-115693254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200168946	chr5:115693254-115693255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35194802	chr5:115693255-115693256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386404768	chr5:115693257-115693258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs56226002	chr5:115693260-115693261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373618707	chr5:115693261-115693262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375703228	chr5:115693262-115693263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563580171	chr5:115693265-115693266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532546432	chr5:115693314-115693315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552253214	chr5:115693331-115693332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372275545	chr5:115693373-115693374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566383680	chr5:115693422-115693423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528737588	chr5:115693458-115693459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559410846	chr5:115693465-115693466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570956758	chr5:115693503-115693504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs32698	chr5:115693509-115693510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142124927	chr5:115693554-115693555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145983046	chr5:115693559-115693560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556224398	chr5:115693561-115693562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181539600	chr5:115693572-115693573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537104061	chr5:115693618-115693619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538647396	chr5:115693654-115693655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184878209	chr5:115693655-115693656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145230505	chr5:115693682-115693683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190454175	chr5:115693690-115693691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113656801	chr5:115693694-115693695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367865273	chr5:115693699-115693700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74316496	chr5:115693708-115693709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149171252	chr5:115693818-115693819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563819135	chr5:115693866-115693867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs27368	chr5:115693892-115693893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs546206191	chr5:115693937-115693938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115494675	chr5:115693939-115693940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370885879	chr5:115693984-115693985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180900101	chr5:115693989-115693990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528797280	chr5:115693991-115693992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557709776	chr5:115694000-115694001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373856202	chr5:115694010-115694011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529847518	chr5:115694075-115694076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116316063	chr5:115694122-115694123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531022752	chr5:115694136-115694137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569550793	chr5:115694152-115694153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185952556	chr5:115694160-115694161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569757044	chr5:115694176-115694177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191275987	chr5:115694180-115694181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:809 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115680000-115693200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr5:115680600-115695800	Weak transcription	Ovary	ovary
3	chr5:115684400-115694400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:115684400-115705800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:115684800-115697800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:115685200-115696800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:115686400-115697000	Weak transcription	Fetal Lung	lung
9	chr5:115686600-115693800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:115686600-115697400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:115687200-115693400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:115687200-115706400	Weak transcription	Liver	Liver
13	chr5:115687800-115693400	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:115687800-115694000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:115687800-115696800	Weak transcription	Pancreas	Pancrea
16	chr5:115687800-115697000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:115688000-115696800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:115688600-115695000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:115688600-115696600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:115689200-115693800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr5:115689200-115693800	Weak transcription	Left Ventricle	heart
22	chr5:115689200-115694000	Weak transcription	Primary B cells from cord blood	blood
23	chr5:115689400-115694200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:115690000-115697600	Weak transcription	Primary T cells from cord blood	blood
25	chr5:115690400-115693800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:115691800-115693800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:115691800-115695000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr5:115692000-115693800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:115692200-115694400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:115692800-115693200	Enhancers	Right Ventricle	heart
31	chr5:115692800-115695800	Enhancers	Fetal Heart	heart
32	chr5:115693000-115695400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:115693200-115693600	Weak transcription	Right Ventricle	heart
34	chr5:115693200-115695600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr5:115693200-115696800	Weak transcription	Fetal Intestine Small	intestine
36	chr5:115693400-115696600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:115693400-115697000	Enhancers	Fetal Muscle Leg	muscle
38	chr5:115693600-115696800	Enhancers	Right Ventricle	heart
39	chr5:115693800-115694200	Enhancers	Fetal Muscle Trunk	muscle
40	chr5:115693800-115694200	Enhancers	GM12878-XiMat	blood
41	chr5:115693800-115694600	Enhancers	Left Ventricle	heart
42	chr5:115693800-115694600	Enhancers	Psoas Muscle	Psoas
43	chr5:115693800-115695200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:115693800-115695200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:115693800-115695200	Enhancers	Stomach Smooth Muscle	stomach
46	chr5:115693800-115695200	Enhancers	K562	blood
47	chr5:115693800-115696000	Enhancers	Primary B cells from peripheral blood	blood
48	chr5:115693800-115696000	Enhancers	Right Atrium	heart
49	chr5:115693800-115696400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:115693800-115696800	Enhancers	Primary hematopoietic stem cells	blood

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