Variant report

Variant	nsv975032
Chromosome Location	chr10:22823880-22826501
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:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:22630133..22633021-chr10:22824543..22827360,3	K562	blood:
2	chr10:22817636..22822369-chr10:22822584..22826795,5	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	PIP4K2A	hsa-miR-30b-5p	chr10:22824956-22824976
2	PIP4K2A	hsa-miR-30b-5p	chr10:22826013-22826006
3	PIP4K2A	hsa-miR-101-3p	chr10:22824100-22824120
4	PIP4K2A	hsa-miR-30b-5p	chr10:22825033-22825026
5	PIP4K2A	hsa-miR-30b-5p	chr10:22825027-22825047
6	PIP4K2A	hsa-miR-122-5p	chr10:22823950-22823943
7	PIP4K2A	hsa-miR-30b-5p	chr10:22824961-22824955
8	PIP4K2A	hsa-miR-30b-5p	chr10:22826007-22826028
9	PIP4K2A	hsa-miR-122-5p	chr10:22823944-22823965

Extended variants
information (count: 142 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184766643	chr10:22823904-22823905	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117744240	chr10:22823926-22823927	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7082999	chr10:22823931-22823932	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557677474	chr10:22823933-22823934	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537412474	chr10:22823934-22823935	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147397323	chr10:22823959-22823960	Weak transcription Genic enhancers Strong transcription Enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
7	rs543199884	chr10:22824014-22824015	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561778632	chr10:22824025-22824026	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572074709	chr10:22824028-22824029	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540693909	chr10:22824029-22824030	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564140614	chr10:22824034-22824035	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139777437	chr10:22824063-22824064	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549708298	chr10:22824066-22824067	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528440860	chr10:22824088-22824089	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76848610	chr10:22824095-22824096	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs8412	chr10:22824104-22824105	Weak transcription Genic enhancers Strong transcription Enhancers	miRNA target site	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373178682	chr10:22824172-22824173	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190567229	chr10:22824222-22824223	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566061355	chr10:22824249-22824250	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145292593	chr10:22824288-22824289	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551569454	chr10:22824308-22824309	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181077400	chr10:22824313-22824314	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112189099	chr10:22824364-22824365	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557693407	chr10:22824378-22824379	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574346155	chr10:22824389-22824390	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536856082	chr10:22824407-22824408	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10734041	chr10:22824416-22824417	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573339369	chr10:22824417-22824418	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373978235	chr10:22824463-22824464	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564021653	chr10:22824464-22824465	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542121086	chr10:22824495-22824496	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375568007	chr10:22824513-22824514	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567454783	chr10:22824544-22824545	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs41304595	chr10:22824588-22824589	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563255432	chr10:22824594-22824595	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529124056	chr10:22824606-22824607	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542491719	chr10:22824617-22824618	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186055832	chr10:22824626-22824627	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528264612	chr10:22824635-22824636	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189628922	chr10:22824644-22824645	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149808106	chr10:22824660-22824661	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181046355	chr10:22824673-22824674	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550962030	chr10:22824675-22824676	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12265213	chr10:22824765-22824766	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145770927	chr10:22824768-22824769	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553377905	chr10:22824779-22824780	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114937338	chr10:22824790-22824791	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79330455	chr10:22824820-22824821	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397741309	chr10:22824828-22824829	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373575443	chr10:22824829-22824830	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22819000-22830000	Weak transcription	HUVEC	blood vessel
2	chr10:22819400-22827800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr10:22819600-22825000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr10:22819600-22825200	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:22819800-22824000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:22819800-22825200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:22819800-22825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:22819800-22825400	Weak transcription	Spleen	Spleen
9	chr10:22820000-22824400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr10:22820000-22826600	Weak transcription	Aorta	Aorta
11	chr10:22820200-22824000	Weak transcription	Primary B cells from cord blood	blood
12	chr10:22820200-22826200	Weak transcription	A549	lung
13	chr10:22820200-22827800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:22820200-22828000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr10:22820400-22824200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:22820400-22825200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr10:22820600-22830000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:22820800-22824200	Weak transcription	HSMM	muscle
19	chr10:22820800-22825400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr10:22820800-22828000	Weak transcription	HSMMtube	muscle
21	chr10:22821000-22824200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:22821000-22825200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:22821200-22824000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr10:22821200-22824200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr10:22821200-22825000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr10:22821400-22824000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:22821400-22825400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr10:22821400-22826000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr10:22821400-22826000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr10:22821400-22826200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:22821600-22827400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr10:22821800-22825200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr10:22821800-22825200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:22821800-22825400	Weak transcription	Lung	lung
35	chr10:22822000-22825200	Weak transcription	Dnd41	blood
36	chr10:22822000-22826200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr10:22822200-22825000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr10:22822200-22826800	Enhancers	Brain Substantia Nigra	brain
39	chr10:22822200-22834200	Strong transcription	Primary T cells from cord blood	blood
40	chr10:22822200-22856000	Weak transcription	Small Intestine	intestine
41	chr10:22822400-22824600	Enhancers	Brain Angular Gyrus	brain
42	chr10:22822400-22824800	Enhancers	Brain Hippocampus Middle	brain
43	chr10:22822400-22825000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:22822400-22825200	Weak transcription	Fetal Stomach	stomach
45	chr10:22822400-22825800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr10:22822400-22826000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr10:22822400-22826600	Weak transcription	Gastric	stomach
48	chr10:22822400-22826800	Enhancers	Brain Cingulate Gyrus	brain
49	chr10:22822400-22833400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr10:22822600-22825000	Weak transcription	Primary hematopoietic stem cells	blood

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