Variant report

Variant	nsv961404
Chromosome Location	chr2:46985967-46989160
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:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46988369..46990736-chr2:46993242..46995389,2	K562	blood:
2	chr2:46924903..46927573-chr2:46987073..46989521,2	K562	blood:
3	chr14:34105436..34106097-chr2:46988888..46989405,2	MCF-7	breast:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SOCS5	hsa-miR-16-5p	chr2:46988562-46988585
2	SOCS5	hsa-miR-21-5p	chr2:46987455-46987476
3	SOCS5	hsa-miR-21-5p	chr2:46988875-46988895

Variant related genes	Relation type
ENSG00000171150	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200944874	chr2:46985977-46985978	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs17853110	chr2:46985978-46985979	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs367987342	chr2:46985997-46985998	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs377674278	chr2:46985998-46985999	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141347348	chr2:46986005-46986006	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs374110485	chr2:46986023-46986024	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs113825614	chr2:46986032-46986033	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370051157	chr2:46986065-46986066	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs267599392	chr2:46986073-46986074	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs143799189	chr2:46986102-46986103	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs576800210	chr2:46986137-46986138	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs373780921	chr2:46986141-46986142	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs544174086	chr2:46986153-46986154	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs202138086	chr2:46986156-46986157	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140618503	chr2:46986176-46986177	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544775730	chr2:46986181-46986182	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs189285831	chr2:46986182-46986183	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577577930	chr2:46986200-46986201	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs138131726	chr2:46986202-46986203	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs148061519	chr2:46986212-46986213	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs371647609	chr2:46986253-46986254	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs377175179	chr2:46986263-46986264	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560216596	chr2:46986268-46986269	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143588000	chr2:46986270-46986271	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs200239822	chr2:46986272-46986273	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs527424596	chr2:46986280-46986281	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs548754649	chr2:46986295-46986296	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs560791354	chr2:46986317-46986318	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs6738426	chr2:46986416-46986417	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs61746760	chr2:46986469-46986470	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs142741959	chr2:46986473-46986474	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs549671304	chr2:46986511-46986512	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376047819	chr2:46986558-46986559	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs202002861	chr2:46986568-46986569	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs370456653	chr2:46986632-46986633	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571515505	chr2:46986633-46986634	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539042738	chr2:46986641-46986642	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374501074	chr2:46986648-46986649	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547500762	chr2:46986649-46986650	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139024335	chr2:46986696-46986697	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149890253	chr2:46986700-46986701	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566148093	chr2:46986707-46986708	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374254264	chr2:46986710-46986711	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs41489952	chr2:46986716-46986717	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555197811	chr2:46986722-46986723	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368457796	chr2:46986743-46986744	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3768721	chr2:46986801-46986802	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs41449044	chr2:46986809-46986810	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs142866121	chr2:46986832-46986833	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199571798	chr2:46986848-46986849	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:46965800-46986800	Weak transcription	Hela-S3	cervix
3	chr2:46969400-46988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:46972600-46986600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:46974600-46990000	Weak transcription	Colonic Mucosa	Colon
6	chr2:46974800-46986600	Weak transcription	Gastric	stomach
7	chr2:46975000-46986800	Weak transcription	GM12878-XiMat	blood
8	chr2:46975600-46986000	Weak transcription	Esophagus	oesophagus
9	chr2:46975600-46986400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:46975800-46986800	Weak transcription	Pancreas	Pancrea
11	chr2:46976200-46990400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:46976400-46986600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:46976600-46986000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:46976600-46986000	Weak transcription	Liver	Liver
15	chr2:46976600-46986000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:46976800-46986000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:46976800-46986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:46976800-46986600	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:46976800-46986600	Weak transcription	HUVEC	blood vessel
20	chr2:46976800-46987200	Weak transcription	Fetal Kidney	kidney
21	chr2:46977000-46986600	Weak transcription	Brain Substantia Nigra	brain
22	chr2:46977000-46988400	Weak transcription	Brain Angular Gyrus	brain
23	chr2:46977400-46986200	Weak transcription	Aorta	Aorta
24	chr2:46978000-46986400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:46979600-46986000	Weak transcription	Fetal Thymus	thymus
26	chr2:46979600-46989600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:46980200-46988600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:46980400-46986000	Weak transcription	Spleen	Spleen
29	chr2:46980400-46986800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:46980400-46988400	Weak transcription	Right Ventricle	heart
31	chr2:46980800-46988800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:46981200-46986000	Weak transcription	Placenta	Placenta
33	chr2:46981200-46986800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:46981200-46988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:46981200-46989600	Weak transcription	Small Intestine	intestine
36	chr2:46981200-46991000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:46981400-46986000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:46981400-46986200	Weak transcription	Ovary	ovary
39	chr2:46981400-46986200	Weak transcription	Right Atrium	heart
40	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
41	chr2:46981600-46988200	Weak transcription	HMEC	breast
42	chr2:46981600-46988400	Weak transcription	NHEK	skin
43	chr2:46981800-46993200	Weak transcription	Fetal Heart	heart
44	chr2:46982200-46986000	Weak transcription	HSMM	muscle
45	chr2:46982200-46988800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:46983000-46986000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:46983200-46990400	Strong transcription	Osteobl	bone
48	chr2:46983400-46986000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:46983400-46986600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:46983400-46986600	Weak transcription	Fetal Lung	lung

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