Variant report

Variant	nsv580968
Chromosome Location	chr2:10923268-10933249
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10918202..10921722-chr2:10922034..10926005,5	K562	blood:
2	chr2:10927095..10928984-chr2:10930437..10933436,3	K562	blood:
3	chr2:10923480..10926875-chr2:10926902..10929913,3	K562	blood:
4	chr2:10928919..10935685-chr2:10937600..10943816,9	K562	blood:
5	chr2:10919808..10922131-chr2:10929132..10931329,2	K562	blood:
6	chr2:10924985..10929288-chr2:10932246..10936170,4	MCF-7	breast:
7	chr2:10913076..10914716-chr2:10924054..10926494,2	MCF-7	breast:
8	chr2:10927146..10928395-chr2:10972046..10972943,6	MCF-7	breast:
9	chr2:10931309..10945449-chr2:10946731..10956927,22	K562	blood:
10	chr2:10927095..10928984-chr2:10930437..10933436,3	K562	blood:
11	chr2:10930748..10933243-chr2:10936511..10939337,3	K562	blood:
12	chr2:10925512..10928400-chr2:10950746..10952997,2	K562	blood:
13	chr2:10919855..10921861-chr2:10927232..10928745,2	K562	blood:
14	chr2:10918360..10921313-chr2:10922011..10924317,2	MCF-7	breast:
15	chr2:10862241..10864022-chr2:10922262..10923897,2	MCF-7	breast:
16	chr2:10923480..10926875-chr2:10926902..10929913,3	K562	blood:
17	chr2:10849331..10850106-chr2:10927322..10928322,2	MCF-7	breast:
18	chr2:10932697..10935521-chr2:10952889..10955116,2	K562	blood:
19	chr2:10924985..10929288-chr2:10932246..10936170,4	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PDIA6	hsa-miR-16-5p	chr2:10924096-10924117
2	PDIA6	hsa-miR-16-5p	chr2:10924102-10924096

Variant related genes	Relation type
ENSG00000143870	chromatin interactions
ENSG00000238962	chromatin interactions
ENSG00000143882	chromatin interactions

Extended variants
information (count: 555 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7560967	chr2:10923268-10923269	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546632873	chr2:10923274-10923275	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182195629	chr2:10923276-10923277	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7574716	chr2:10923284-10923285	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550919402	chr2:10923302-10923303	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs149306071	chr2:10923310-10923311	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148072709	chr2:10923314-10923315	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569154028	chr2:10923324-10923325	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs17364812	chr2:10923353-10923354	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs554685818	chr2:10923409-10923410	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187160036	chr2:10923429-10923430	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376828785	chr2:10923437-10923438	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556998473	chr2:10923440-10923441	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs137969010	chr2:10923498-10923499	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559009388	chr2:10923563-10923564	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11489	chr2:10923581-10923582	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs544385606	chr2:10923638-10923639	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562708971	chr2:10923640-10923641	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1060011	chr2:10923666-10923667	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192453762	chr2:10923674-10923675	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200126259	chr2:10923683-10923684	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565321075	chr2:10923685-10923686	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182197560	chr2:10923691-10923692	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs9314	chr2:10923696-10923697	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs1060005	chr2:10923700-10923701	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs1060002	chr2:10923702-10923703	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185405157	chr2:10923728-10923729	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149491730	chr2:10923740-10923741	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550809230	chr2:10923779-10923780	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569043087	chr2:10923802-10923803	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536167576	chr2:10923803-10923804	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs6748808	chr2:10923821-10923822	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540403004	chr2:10923924-10923925	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs75496500	chr2:10923969-10923970	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs16856645	chr2:10923991-10923992	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190113887	chr2:10924003-10924004	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568869179	chr2:10924010-10924011	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201184814	chr2:10924055-10924056	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs3208276	chr2:10924074-10924075	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1804105	chr2:10924077-10924078	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558700720	chr2:10924085-10924086	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537921891	chr2:10924132-10924133	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556342717	chr2:10924133-10924134	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs1804107	chr2:10924165-10924166	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574650183	chr2:10924176-10924177	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545130737	chr2:10924177-10924178	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs554444008	chr2:10924285-10924286	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11545886	chr2:10924302-10924303	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111359980	chr2:10924303-10924304	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs202243910	chr2:10924313-10924314	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10908600-10924400	Weak transcription	Psoas Muscle	Psoas
2	chr2:10914600-10931600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:10915600-10939800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:10915600-10950400	Weak transcription	Right Atrium	heart
5	chr2:10915800-10929000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:10916200-10939200	Strong transcription	Fetal Stomach	stomach
7	chr2:10916400-10923600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:10916400-10923600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:10916400-10928600	Strong transcription	Fetal Intestine Small	intestine
10	chr2:10916400-10931200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:10916400-10931600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:10916400-10938600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:10916600-10943800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:10916800-10933800	Strong transcription	Spleen	Spleen
15	chr2:10916800-10937400	Strong transcription	Lung	lung
16	chr2:10916800-10942400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:10917000-10926600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:10917000-10930400	Strong transcription	GM12878-XiMat	blood
19	chr2:10917000-10930600	Strong transcription	NHEK	skin
20	chr2:10917000-10933600	Strong transcription	Primary T cells from cord blood	blood
21	chr2:10917000-10939400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:10917200-10925800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:10917200-10929000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr2:10917200-10931000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:10917200-10931000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:10917200-10933400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:10917200-10933400	Strong transcription	NHLF	lung
28	chr2:10917200-10934200	Strong transcription	Adipose Nuclei	Adipose
29	chr2:10917200-10937800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:10917200-10937800	Strong transcription	Thymus	Thymus
31	chr2:10917200-10939000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:10917200-10942800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:10917200-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:10917200-10943200	Strong transcription	Fetal Thymus	thymus
35	chr2:10917400-10924800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr2:10917400-10930400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:10917400-10941200	Strong transcription	Liver	Liver
38	chr2:10917400-10942400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr2:10917600-10930400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:10917600-10930600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:10917600-10939200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:10917600-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:10917600-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:10917600-10943200	Strong transcription	Fetal Muscle Leg	muscle
45	chr2:10917800-10937800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:10917800-10942800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:10917800-10943200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:10917800-10943200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr2:10917800-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:10917800-10944400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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