Variant report

Variant	esv2760650
Chromosome Location	chr2:46970686-46978878
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:0)

No data

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

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

No data

Variant related genes	Relation type
ENSG00000171150	chromatin interactions

Extended variants
information (count: 363 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141636629	chr2:46970740-46970741	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572424477	chr2:46970779-46970780	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147048008	chr2:46970811-46970812	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72802460	chr2:46970826-46970827	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138244253	chr2:46970855-46970856	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372878168	chr2:46970857-46970858	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554748097	chr2:46970864-46970865	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17035560	chr2:46970887-46970888	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs143737966	chr2:46970908-46970909	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150522408	chr2:46970917-46970918	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190393807	chr2:46971017-46971018	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570773742	chr2:46971072-46971073	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181479548	chr2:46971090-46971091	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72802461	chr2:46971126-46971127	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10710540	chr2:46971136-46971137	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397820848	chr2:46971146-46971147	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535564997	chr2:46971162-46971163	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551097854	chr2:46971163-46971164	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79729744	chr2:46971189-46971190	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540036091	chr2:46971190-46971191	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6711782	chr2:46971195-46971196	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185574012	chr2:46971201-46971202	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149304856	chr2:46971219-46971220	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552537481	chr2:46971223-46971224	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574135717	chr2:46971291-46971292	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541558602	chr2:46971321-46971322	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144540452	chr2:46971343-46971344	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55928499	chr2:46971347-46971348	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148440264	chr2:46971367-46971368	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567713906	chr2:46971368-46971369	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6712025	chr2:46971371-46971372	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145940772	chr2:46971388-46971389	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371080532	chr2:46971415-46971416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139792866	chr2:46971422-46971423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13399271	chr2:46971438-46971439	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs76436868	chr2:46971466-46971467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569352909	chr2:46971477-46971478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553603780	chr2:46971486-46971487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190179538	chr2:46971575-46971576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181075481	chr2:46971603-46971604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551539003	chr2:46971618-46971619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186120560	chr2:46971637-46971638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190594131	chr2:46971647-46971648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144526479	chr2:46971655-46971656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574310441	chr2:46971657-46971658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535446920	chr2:46971665-46971666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556751392	chr2:46971680-46971681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575276366	chr2:46971691-46971692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545612533	chr2:46971758-46971759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184231994	chr2:46971789-46971790	Weak transcription Enhancers	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:356 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr2:46955200-46974400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:46955200-46984800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:46955200-46985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:46955400-46974200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:46956000-46975400	Weak transcription	Lung	lung
13	chr2:46956000-46980000	Weak transcription	Right Atrium	heart
14	chr2:46957400-46973200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:46959600-46975000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:46960000-46978800	Weak transcription	Primary T cells from cord blood	blood
17	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:46962000-46982000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:46964400-46973200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:46964800-46985800	Weak transcription	Primary B cells from cord blood	blood
21	chr2:46965400-46972400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:46965400-46974200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:46965400-46974400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:46965400-46979200	Weak transcription	Psoas Muscle	Psoas
25	chr2:46965600-46971400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:46965600-46971400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:46965600-46974800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:46965600-46980800	Weak transcription	Fetal Heart	heart
29	chr2:46965800-46972600	Weak transcription	NHLF	lung
30	chr2:46965800-46974400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:46965800-46986800	Weak transcription	Hela-S3	cervix
32	chr2:46966400-46973400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:46966600-46975200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:46967400-46974600	Weak transcription	NH-A	brain
35	chr2:46967600-46974400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:46968000-46974400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:46968000-46974400	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:46968000-46974400	Weak transcription	Pancreas	Pancrea
39	chr2:46968000-46974600	Weak transcription	Gastric	stomach
40	chr2:46968000-46979200	Weak transcription	Left Ventricle	heart
41	chr2:46968000-46980000	Weak transcription	Spleen	Spleen
42	chr2:46968200-46974200	Weak transcription	A549	lung
43	chr2:46968200-46974400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:46968200-46976000	Weak transcription	Stomach Mucosa	stomach
45	chr2:46968200-46976200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:46968800-46970800	Enhancers	HepG2	liver
47	chr2:46969400-46972200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:46969400-46972400	Weak transcription	NHDF-Ad	bronchial
49	chr2:46969400-46974600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:46969400-46976000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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