Variant report

Variant	nsv237514
Chromosome Location	chr3:20191013-20198743
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:14)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:20197490..20199260-chr3:20227955..20230018,2	K562	blood:
2	chr3:20177373..20179838-chr3:20195136..20197383,2	K562	blood:
3	chr3:20195318..20197314-chr3:20202622..20204510,2	MCF-7	breast:
4	chr3:20193485..20196421-chr3:20205590..20208525,2	K562	blood:
5	chr3:20080757..20082677-chr3:20192981..20195193,2	K562	blood:
6	chr3:20081214..20082103-chr3:20196180..20196782,3	MCF-7	breast:
7	chr3:20186107..20188316-chr3:20191004..20193087,2	MCF-7	breast:
8	chr3:20197560..20199783-chr3:20225608..20228182,2	MCF-7	breast:
9	chr3:20197127..20199080-chr3:20208900..20210840,2	MCF-7	breast:
10	chr3:20195965..20199003-chr3:20200424..20204373,5	K562	blood:
11	chr3:20191414..20193219-chr3:20194880..20197331,2	K562	blood:
12	chr3:20188934..20192869-chr3:20226143..20228338,3	MCF-7	breast:
13	chr3:20187588..20190106-chr3:20193535..20195392,3	K562	blood:
14	chr3:20191414..20193219-chr3:20194880..20197331,2	K562	blood:

No data

(count:14 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KAT2B	hsa-miR-93-5p	chr3:20195701-20195723
2	KAT2B	hsa-miR-181b-5p	chr3:20194367-20194390
3	KAT2B	hsa-miR-92a-3p	chr3:20195750-20195772
4	KAT2B	hsa-miR-25-3p	chr3:20195765-20195772
5	KAT2B	hsa-miR-93-5p	chr3:20194121-20194144
6	KAT2B	hsa-miR-106b-5p	chr3:20194137-20194143
7	KAT2B	hsa-miR-25-3p	chr3:20195750-20195772
8	KAT2B	hsa-miR-106b-5p	chr3:20195703-20195723
9	KAT2B	hsa-miR-181a-5p	chr3:20194367-20194390
10	KAT2B	hsa-miR-92a-3p	chr3:20195765-20195772
11	KAT2B	hsa-miR-93-5p	chr3:20194137-20194143
12	KAT2B	hsa-miR-32-5p	chr3:20195765-20195772
13	KAT2B	hsa-miR-106b-5p	chr3:20194123-20194144
14	KAT2B	hsa-miR-32-5p	chr3:20195750-20195772

Variant related genes	Relation type
ENSG00000129810	chromatin interactions
ENSG00000266745	chromatin interactions
ENSG00000114166	chromatin interactions

Extended variants
information (count: 287 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61280687	chr3:20191023-20191024	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145780391	chr3:20191037-20191038	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374550574	chr3:20191040-20191041	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs28704852	chr3:20191056-20191057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569762211	chr3:20191078-20191079	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532978127	chr3:20191168-20191169	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs3804567	chr3:20191176-20191177	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566808165	chr3:20191182-20191183	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116523332	chr3:20191195-20191196	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146991175	chr3:20191199-20191200	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs3804568	chr3:20191274-20191275	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9848075	chr3:20191317-20191318	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553151596	chr3:20191335-20191336	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181994241	chr3:20191348-20191349	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187473362	chr3:20191373-20191374	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539050987	chr3:20191374-20191375	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189006059	chr3:20191385-20191386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs9867859	chr3:20191406-20191407	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs62241669	chr3:20191421-20191422	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555173484	chr3:20191443-20191444	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138112106	chr3:20191484-20191485	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs57121762	chr3:20191498-20191499	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544308974	chr3:20191503-20191504	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs977162	chr3:20191506-20191507	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs180900871	chr3:20191561-20191562	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543511676	chr3:20191570-20191571	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186328694	chr3:20191580-20191581	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190254249	chr3:20191621-20191622	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs141705214	chr3:20191676-20191677	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548884594	chr3:20191696-20191697	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150539065	chr3:20191702-20191703	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531434797	chr3:20191729-20191730	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181486183	chr3:20191734-20191735	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs59374480	chr3:20191747-20191748	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538646381	chr3:20191775-20191776	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554094561	chr3:20191827-20191828	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534173254	chr3:20191835-20191836	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566101763	chr3:20191841-20191842	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs375170013	chr3:20191888-20191889	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536914113	chr3:20191897-20191898	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs555336756	chr3:20191969-20191970	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs3828352	chr3:20191973-20191974	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537698793	chr3:20191981-20191982	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs3804570	chr3:20192055-20192056	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577629031	chr3:20192073-20192074	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544782242	chr3:20192093-20192094	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560063656	chr3:20192143-20192144	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2661376	chr3:20192146-20192147	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542495720	chr3:20192212-20192213	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560874071	chr3:20192239-20192240	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	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
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
2	chr3:20141200-20222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:20147600-20194200	Weak transcription	Dnd41	blood
4	chr3:20151000-20196800	Weak transcription	Stomach Mucosa	stomach
5	chr3:20159200-20201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:20162800-20198200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:20164400-20204400	Weak transcription	Small Intestine	intestine
8	chr3:20164800-20211400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:20167800-20196600	Weak transcription	K562	blood
10	chr3:20167800-20226000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:20168800-20200800	Weak transcription	GM12878-XiMat	blood
12	chr3:20169600-20198400	Weak transcription	Aorta	Aorta
13	chr3:20169600-20198400	Weak transcription	Pancreas	Pancrea
14	chr3:20169800-20201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:20169800-20202000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:20175800-20196800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr3:20177800-20195200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:20178200-20195200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:20178400-20191800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:20179000-20196400	Weak transcription	HUVEC	blood vessel
21	chr3:20179400-20197600	Weak transcription	Right Atrium	heart
22	chr3:20181400-20195600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr3:20181800-20200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:20182400-20195200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr3:20182400-20196400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:20182600-20201400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:20182800-20198000	Weak transcription	Ovary	ovary
28	chr3:20183200-20192800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:20183600-20201000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr3:20183800-20193000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:20183800-20196000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:20183800-20196000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:20183800-20196400	Weak transcription	Fetal Intestine Small	intestine
34	chr3:20183800-20196800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:20183800-20198000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:20183800-20198400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:20183800-20199600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:20183800-20199600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:20184000-20196400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:20184000-20198000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:20184200-20196400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:20184400-20196000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:20184400-20197800	Weak transcription	Lung	lung
44	chr3:20184400-20198000	Weak transcription	Right Ventricle	heart
45	chr3:20184400-20198400	Weak transcription	Spleen	Spleen
46	chr3:20184400-20198600	Weak transcription	Brain Hippocampus Middle	brain
47	chr3:20184400-20199000	Weak transcription	Esophagus	oesophagus
48	chr3:20184600-20220200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:20184800-20196400	Weak transcription	Gastric	stomach
50	chr3:20186400-20195600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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