Variant report

Variant	esv3459561
Chromosome Location	chr2:46967674-46979121
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46930029..46933528-chr2:46976256..46980348,3	K562	blood:
2	chr2:46925151..46928647-chr2:46973224..46976645,4	MCF-7	breast:
3	chr2:46970114..46972113-chr2:46977401..46980359,2	MCF-7	breast:
4	chr2:46933593..46936563-chr2:46968141..46970927,2	K562	blood:
5	chr2:46972029..46974596-chr2:46974621..46976270,2	K562	blood:
6	chr2:46977061..46979853-chr2:46982842..46984764,2	K562	blood:
7	chr2:46972029..46974596-chr2:46974621..46976270,2	K562	blood:
8	chr2:46926502..46928230-chr2:46967700..46969222,2	MCF-7	breast:
9	chr2:46966037..46968172-chr2:46972151..46974952,2	MCF-7	breast:
10	chr2:46969632..46972292-chr2:46976605..46978764,2	K562	blood:
11	chr2:46970114..46972113-chr2:46977401..46980359,2	MCF-7	breast:
12	chr2:46969632..46972292-chr2:46976605..46978764,2	K562	blood:
13	chr2:46961327..46962989-chr2:46966754..46968655,2	K562	blood:
14	chr2:46976318..46977932-chr2:46979350..46982138,4	K562	blood:
15	chr2:46965000..46967486-chr2:46976098..46978644,2	K562	blood:
16	chr2:46966037..46968172-chr2:46972151..46974952,2	MCF-7	breast:
17	chr2:46925252..46927088-chr2:46973124..46974956,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171150	chromatin interactions

Extended variants
information (count: 491 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373945245	chr2:46967688-46967689	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10190841	chr2:46967694-46967695	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547708377	chr2:46967710-46967711	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375517068	chr2:46967753-46967754	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148653495	chr2:46967851-46967852	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533774314	chr2:46967861-46967862	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72882805	chr2:46967873-46967874	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567385656	chr2:46967877-46967878	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537615966	chr2:46967880-46967881	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556308571	chr2:46967888-46967889	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142122283	chr2:46967898-46967899	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192347322	chr2:46967910-46967911	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536478458	chr2:46967923-46967924	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371276450	chr2:46967939-46967940	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553652994	chr2:46967954-46967955	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373050182	chr2:46967997-46967998	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533689281	chr2:46968011-46968012	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572066180	chr2:46968037-46968038	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542625378	chr2:46968042-46968043	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376070716	chr2:46968044-46968045	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10167561	chr2:46968051-46968052	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs531807335	chr2:46968071-46968072	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543590404	chr2:46968092-46968093	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6714751	chr2:46968121-46968122	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567054360	chr2:46968160-46968161	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532645388	chr2:46968168-46968169	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150737232	chr2:46968181-46968182	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566387206	chr2:46968188-46968189	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76474482	chr2:46968197-46968198	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144007930	chr2:46968202-46968203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567298503	chr2:46968205-46968206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536514525	chr2:46968250-46968251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76706801	chr2:46968261-46968262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6714964	chr2:46968286-46968287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146420722	chr2:46968293-46968294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553613893	chr2:46968369-46968370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72802448	chr2:46968413-46968414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs367682351	chr2:46968415-46968416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554525273	chr2:46968418-46968419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578167620	chr2:46968427-46968428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140746322	chr2:46968433-46968434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543896706	chr2:46968453-46968454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183663621	chr2:46968461-46968462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6728559	chr2:46968465-46968466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541660984	chr2:46968470-46968471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560061849	chr2:46968476-46968477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554499243	chr2:46968504-46968505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74832486	chr2:46968523-46968524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548939732	chr2:46968527-46968528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560863006	chr2:46968537-46968538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:46947600-46975600	Weak transcription	HSMM	muscle
3	chr2:46948200-46974600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:46948200-46977200	Weak transcription	Aorta	Aorta
5	chr2:46948600-46974400	Weak transcription	Fetal Stomach	stomach
6	chr2:46950800-46975400	Weak transcription	Fetal Lung	lung
7	chr2:46955000-46975400	Weak transcription	Small Intestine	intestine
8	chr2:46955200-46970400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:46955200-46974400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:46955200-46984800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:46955200-46985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:46955400-46967800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:46955400-46967800	Weak transcription	Fetal Thymus	thymus
14	chr2:46955400-46974200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:46956000-46975400	Weak transcription	Lung	lung
16	chr2:46956000-46980000	Weak transcription	Right Atrium	heart
17	chr2:46957400-46973200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:46959600-46975000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:46959800-46969000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:46960000-46978800	Weak transcription	Primary T cells from cord blood	blood
21	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:46962000-46982000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:46962200-46968800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:46962600-46967800	Weak transcription	Gastric	stomach
25	chr2:46962600-46969000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:46964000-46970600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:46964200-46967800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:46964400-46973200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:46964800-46969000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:46964800-46985800	Weak transcription	Primary B cells from cord blood	blood
31	chr2:46965000-46968800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:46965400-46970200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:46965400-46972400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:46965400-46974200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:46965400-46974400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:46965400-46979200	Weak transcription	Psoas Muscle	Psoas
37	chr2:46965600-46969000	Weak transcription	NHDF-Ad	bronchial
38	chr2:46965600-46969800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:46965600-46971400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:46965600-46971400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:46965600-46974800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:46965600-46980800	Weak transcription	Fetal Heart	heart
43	chr2:46965800-46967800	Weak transcription	HepG2	liver
44	chr2:46965800-46972600	Weak transcription	NHLF	lung
45	chr2:46965800-46974400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:46965800-46986800	Weak transcription	Hela-S3	cervix
47	chr2:46966400-46973400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:46966600-46970000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:46966600-46975200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:46967200-46968000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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