Variant report

Variant	nsv980699
Chromosome Location	chr5:95149795-95150898
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:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:94890695..94892363-chr5:95148648..95150304,2	K562	blood:
2	chr5:95149187..95152215-chr5:95156568..95159390,5	MCF-7	breast:
3	chr5:95148182..95149810-chr5:95152162..95154421,2	MCF-7	breast:
4	chr5:95065571..95068096-chr5:95150283..95152215,2	MCF-7	breast:
5	chr5:95149457..95151084-chr5:95151205..95153172,2	K562	blood:
6	chr5:95147817..95150624-chr5:95169490..95171087,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GLRX	hsa-miR-16-5p	chr5:95150243-95150264
2	GLRX	hsa-miR-128-3p	chr5:95149915-95149937

Variant related genes	Relation type
ENSG00000164292	chromatin interactions
ENSG00000164291	chromatin interactions
ENSG00000198677	chromatin interactions
ENSG00000250240	chromatin interactions
ENSG00000251000	chromatin interactions
ENSG00000173221	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8751	chr5:95149816-95149817	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184467364	chr5:95149858-95149859	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs8750	chr5:95149966-95149967	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565184187	chr5:95149979-95149980	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs189334113	chr5:95149981-95149982	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs572397637	chr5:95150005-95150006	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs531952827	chr5:95150046-95150047	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs560819180	chr5:95150085-95150086	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs529852879	chr5:95150091-95150092	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs1047423	chr5:95150094-95150095	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs1047421	chr5:95150132-95150133	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs1047420	chr5:95150245-95150246	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs29000872	chr5:95150335-95150336	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs570997888	chr5:95150365-95150366	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs539943244	chr5:95150367-95150368	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs181120744	chr5:95150368-95150369	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs29000871	chr5:95150371-95150372	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs29000870	chr5:95150423-95150424	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs1047419	chr5:95150469-95150470	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs548133210	chr5:95150493-95150494	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs556582479	chr5:95150547-95150548	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs188956801	chr5:95150578-95150579	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs536849815	chr5:95150602-95150603	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs371907624	chr5:95150616-95150617	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs556750611	chr5:95150640-95150641	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs569767138	chr5:95150643-95150644	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs535612051	chr5:95150644-95150645	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs570231845	chr5:95150650-95150651	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs538799070	chr5:95150661-95150662	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs35375583	chr5:95150686-95150687	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs555404958	chr5:95150753-95150754	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs571996502	chr5:95150786-95150787	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs148262157	chr5:95150870-95150871	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs114872300	chr5:95150872-95150873	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs554449977	chr5:95150877-95150878	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs77578440	chr5:95150889-95150890	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
2	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
3	chr5:95124600-95154400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:95125000-95154400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:95130000-95157400	Weak transcription	Ovary	ovary
6	chr5:95139800-95154200	Weak transcription	Pancreas	Pancrea
7	chr5:95143200-95153600	Genic enhancers	Fetal Thymus	thymus
8	chr5:95144200-95150400	Weak transcription	Hela-S3	cervix
9	chr5:95144600-95151200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:95145400-95150200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:95145600-95153200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:95145600-95154200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:95145600-95154400	Weak transcription	Esophagus	oesophagus
14	chr5:95146000-95157200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:95146400-95152600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:95146600-95150400	Weak transcription	Fetal Stomach	stomach
17	chr5:95146600-95153000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:95146600-95153800	Weak transcription	Brain Substantia Nigra	brain
19	chr5:95146800-95150400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:95146800-95152800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:95146800-95153200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:95146800-95157000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:95147000-95153400	Weak transcription	NHDF-Ad	bronchial
24	chr5:95147400-95152400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:95147600-95152600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:95147600-95152600	Weak transcription	Small Intestine	intestine
27	chr5:95147800-95150800	Strong transcription	Primary B cells from cord blood	blood
28	chr5:95147800-95152600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr5:95148000-95150600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:95148000-95152200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr5:95148000-95152600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:95148000-95152800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr5:95148200-95150000	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:95148200-95150000	Weak transcription	Psoas Muscle	Psoas
35	chr5:95148200-95150200	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:95148200-95150200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr5:95148200-95150600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:95148200-95151400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:95148200-95151400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:95148200-95151400	Weak transcription	Gastric	stomach
41	chr5:95148200-95151400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:95148200-95152600	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr5:95148200-95152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:95148200-95152800	Strong transcription	Spleen	Spleen
45	chr5:95148200-95153000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:95148200-95153000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:95148200-95153000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:95148200-95153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:95148200-95153000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:95148200-95153000	Weak transcription	Fetal Muscle Trunk	muscle

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