Variant report

Variant	nsv976317
Chromosome Location	chr14:21819802-21820890
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21820226..21822237-chr14:21826339..21828894,2	K562	blood:
2	chr14:21813312..21815888-chr14:21820532..21822730,2	MCF-7	breast:
3	chr14:21814371..21817924-chr14:21819365..21822480,4	K562	blood:
4	chr14:21820070..21822211-chr14:21844617..21847241,2	MCF-7	breast:
5	chr14:21814821..21817594-chr14:21819098..21821242,4	K562	blood:
6	chr14:21700378..21702346-chr14:21819126..21821504,2	MCF-7	breast:
7	chr14:21727359..21730774-chr14:21816654..21820383,4	K562	blood:
8	chr14:21788171..21789709-chr14:21819035..21821503,2	K562	blood:
9	chr14:21820835..21822896-chr14:21824252..21825918,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	SUPT16H	hsa-miR-615-3p	chr14:21820188-21820211
2	SUPT16H	hsa-miR-25-3p	chr14:21820642-21820664
3	SUPT16H	hsa-miR-16-5p	chr14:21819925-21819945
4	SUPT16H	hsa-miR-16-5p	chr14:21819931-21819925

Variant related genes	Relation type
ENSG00000092201	chromatin interactions
ENSG00000092200	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11149	chr14:21819820-21819821	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs2295864	chr14:21819850-21819851	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530311771	chr14:21819879-21819880	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570732888	chr14:21819935-21819936	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
5	rs144198624	chr14:21819940-21819941	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
6	rs61611519	chr14:21820016-21820017	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185653163	chr14:21820026-21820027	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2295865	chr14:21820029-21820030	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs61977520	chr14:21820079-21820080	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs61977521	chr14:21820081-21820082	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532149067	chr14:21820113-21820114	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376182759	chr14:21820115-21820116	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs8003160	chr14:21820119-21820120	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547378800	chr14:21820152-21820153	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573547590	chr14:21820163-21820164	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111529031	chr14:21820173-21820174	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553234990	chr14:21820177-21820178	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs72684736	chr14:21820178-21820179	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545400870	chr14:21820190-21820191	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
20	rs565312337	chr14:21820191-21820192	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
21	rs142544756	chr14:21820193-21820194	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
22	rs35140265	chr14:21820199-21820200	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
23	rs201353365	chr14:21820232-21820233	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs545762466	chr14:21820234-21820235	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs544762119	chr14:21820236-21820237	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs78708413	chr14:21820237-21820238	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561356560	chr14:21820261-21820262	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs150965279	chr14:21820264-21820265	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs564116741	chr14:21820298-21820299	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs540426927	chr14:21820316-21820317	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs560865407	chr14:21820356-21820357	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs369127550	chr14:21820359-21820360	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532662887	chr14:21820365-21820366	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140543535	chr14:21820372-21820373	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs570939210	chr14:21820435-21820436	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs10872898	chr14:21820454-21820455	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150983279	chr14:21820455-21820456	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs550302957	chr14:21820477-21820478	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs566976204	chr14:21820519-21820520	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs73579626	chr14:21820576-21820577	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs184388020	chr14:21820587-21820588	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs8022480	chr14:21820651-21820652	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11554578	chr14:21820669-21820670	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs141381871	chr14:21820671-21820672	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs188426409	chr14:21820677-21820678	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs544575178	chr14:21820702-21820703	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555105970	chr14:21820737-21820738	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574811309	chr14:21820756-21820757	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540841109	chr14:21820761-21820762	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs145169068	chr14:21820773-21820774	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ewing''s sarcoma	18628472	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21803600-21820200	Weak transcription	K562	blood
2	chr14:21811600-21820000	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:21811800-21820200	Weak transcription	Gastric	stomach
4	chr14:21815600-21820200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:21816400-21820800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:21817000-21820200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:21817000-21820200	Weak transcription	Pancreas	Pancrea
8	chr14:21817400-21820000	Weak transcription	Fetal Kidney	kidney
9	chr14:21817600-21820000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:21817600-21820000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:21817600-21820600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:21817600-21822400	Weak transcription	Stomach Mucosa	stomach
13	chr14:21817800-21820200	Weak transcription	Colonic Mucosa	Colon
14	chr14:21817800-21825400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:21818000-21820200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:21818000-21843000	Strong transcription	A549	lung
17	chr14:21818000-21848800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:21818000-21849200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:21818200-21841200	Strong transcription	Fetal Brain Female	brain
20	chr14:21818400-21820000	Weak transcription	Esophagus	oesophagus
21	chr14:21818400-21820000	Weak transcription	Small Intestine	intestine
22	chr14:21818400-21820200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:21818600-21820000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:21818600-21820200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:21818600-21820200	Weak transcription	Brain Angular Gyrus	brain
26	chr14:21818600-21838800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:21818600-21841000	Strong transcription	HMEC	breast
28	chr14:21818600-21841200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:21818800-21820000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr14:21818800-21820200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:21818800-21820200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:21818800-21820200	Strong transcription	GM12878-XiMat	blood
33	chr14:21818800-21820800	Strong transcription	Liver	Liver
34	chr14:21818800-21823200	Strong transcription	Brain Substantia Nigra	brain
35	chr14:21818800-21836600	Strong transcription	Spleen	Spleen
36	chr14:21818800-21838400	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr14:21818800-21838600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:21818800-21839600	Strong transcription	Thymus	Thymus
39	chr14:21818800-21840600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr14:21818800-21840800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr14:21818800-21841000	Strong transcription	Brain Anterior Caudate	brain
42	chr14:21818800-21841200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:21818800-21841200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr14:21818800-21841200	Strong transcription	Left Ventricle	heart
45	chr14:21818800-21841400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:21818800-21841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:21818800-21841400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:21818800-21841400	Strong transcription	NHEK	skin
49	chr14:21818800-21841600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:21818800-21841600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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