Variant report

Variant	nsv979823
Chromosome Location	chr3:42825813-42826813
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:42820160..42826427-chr3:42842009..42849039,11	K562	blood:
2	chr3:42821893..42823608-chr3:42825720..42828571,2	K562	blood:
3	chr3:42796446..42798021-chr3:42824548..42826746,2	K562	blood:
4	chr3:42825664..42827247-chr3:42863922..42866111,2	MCF-7	breast:
5	chr3:42824804..42827092-chr3:42834818..42838109,3	K562	blood:
6	chr3:42825788..42828570-chr3:42866080..42867830,2	K562	blood:
7	chr3:42824890..42826427-chr3:42846368..42849039,2	K562	blood:
8	chr3:42823433..42825988-chr3:42826908..42830376,3	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	HIGD1A	hsa-miR-1	chr3:42825847-42825841
2	HIGD1A	hsa-miR-1	chr3:42825842-42825863
3	HIGD1A	hsa-miR-16-5p	chr3:42826116-42826138
4	HIGD1A	hsa-miR-16-5p	chr3:42826122-42826116

Variant related genes	Relation type
ENSG00000144648	chromatin interactions
ENSG00000181061	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71323168	chr3:42825845-42825846	Weak transcription Strong transcription Enhancers	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
2	rs181543348	chr3:42825907-42825908	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528790066	chr3:42825921-42825922	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs552056132	chr3:42825939-42825940	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs187640672	chr3:42825940-42825941	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs1127544	chr3:42825987-42825988	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148369079	chr3:42826037-42826038	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs6865	chr3:42826041-42826042	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs141157981	chr3:42826079-42826080	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs191947252	chr3:42826093-42826094	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552932510	chr3:42826113-42826114	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs4682855	chr3:42826168-42826169	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538553545	chr3:42826182-42826183	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs576139579	chr3:42826246-42826247	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs558394285	chr3:42826264-42826265	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575115261	chr3:42826289-42826290	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs386660535	chr3:42826322-42826323	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs180900888	chr3:42826361-42826362	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377449716	chr3:42826493-42826494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557208432	chr3:42826494-42826495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185779481	chr3:42826517-42826518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190155115	chr3:42826525-42826526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542700075	chr3:42826587-42826588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559786212	chr3:42826593-42826594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528460977	chr3:42826611-42826612	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11555611	chr3:42826675-42826676	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11555610	chr3:42826694-42826695	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182640164	chr3:42826743-42826744	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370956652	chr3:42826744-42826745	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11555616	chr3:42826778-42826779	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11555619	chr3:42826782-42826783	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565556493	chr3:42826791-42826792	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531047022	chr3:42826792-42826793	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375545770	chr3:42826798-42826799	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368330989	chr3:42826810-42826811	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42814800-42840800	Weak transcription	Spleen	Spleen
2	chr3:42815000-42834800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:42815200-42827000	Weak transcription	Fetal Lung	lung
4	chr3:42815200-42828200	Weak transcription	Fetal Intestine Small	intestine
5	chr3:42815200-42834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:42815200-42834800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:42815200-42834800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:42815200-42834800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:42815200-42834800	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:42815200-42834800	Weak transcription	Ovary	ovary
11	chr3:42815200-42834800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:42815200-42834800	Weak transcription	A549	lung
13	chr3:42815200-42835200	Weak transcription	Right Ventricle	heart
14	chr3:42815200-42836400	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:42815200-42837400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:42815200-42842000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:42815200-42842200	Weak transcription	Aorta	Aorta
18	chr3:42815200-42842400	Weak transcription	Psoas Muscle	Psoas
19	chr3:42815400-42826800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:42815400-42826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:42815400-42827400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:42815400-42827600	Weak transcription	Primary B cells from cord blood	blood
23	chr3:42815400-42832400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:42815400-42833600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:42815400-42834400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:42815400-42834800	Weak transcription	Brain Germinal Matrix	brain
27	chr3:42815400-42837200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr3:42815400-42844000	Weak transcription	NHDF-Ad	bronchial
29	chr3:42815600-42827600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:42815600-42841800	Weak transcription	Thymus	Thymus
31	chr3:42815600-42842000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:42815600-42842000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:42816200-42837600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:42820400-42834800	Weak transcription	HSMMtube	muscle
35	chr3:42821200-42826200	Weak transcription	Hela-S3	cervix
36	chr3:42821400-42828400	Strong transcription	Dnd41	blood
37	chr3:42821400-42837400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:42821800-42827000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:42821800-42834800	Weak transcription	Esophagus	oesophagus
40	chr3:42821800-42834800	Weak transcription	Pancreas	Pancrea
41	chr3:42822000-42841200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr3:42822400-42826800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr3:42822400-42826800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:42822400-42834800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:42822400-42834800	Weak transcription	NHLF	lung
46	chr3:42822400-42837200	Weak transcription	Brain Angular Gyrus	brain
47	chr3:42822400-42843400	Weak transcription	Small Intestine	intestine
48	chr3:42822800-42826400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr3:42822800-42826400	Weak transcription	Osteobl	bone
50	chr3:42822800-42827000	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links