Variant report

Variant	esv3355457
Chromosome Location	chr2:11927401-11931599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11928903..11931093-chr2:11936494..11938853,2	K562	blood:
2	chr2:11921528..11925631-chr2:11927593..11931586,5	K562	blood:
3	chr2:11921904..11924670-chr2:11926254..11929186,2	MCF-7	breast:
4	chr2:11928392..11930416-chr2:11934274..11935908,2	K562	blood:

Variant related genes	Relation type
ENSG00000134324	chromatin interactions

Extended variants
information (count: 217 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374399999	chr2:11927424-11927425	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566544466	chr2:11927439-11927440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533870399	chr2:11927452-11927453	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368530806	chr2:11927469-11927470	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571021986	chr2:11927472-11927473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184676194	chr2:11927502-11927503	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375039557	chr2:11927508-11927509	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375069248	chr2:11927513-11927514	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200660530	chr2:11927518-11927519	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs67347465	chr2:11927523-11927524	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528447139	chr2:11927524-11927525	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538096810	chr2:11927548-11927549	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372764823	chr2:11927583-11927584	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556402334	chr2:11927645-11927646	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146853263	chr2:11927655-11927656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140569657	chr2:11927689-11927690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs62113359	chr2:11927692-11927693	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572382132	chr2:11927704-11927705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546254702	chr2:11927724-11927725	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs80080984	chr2:11927741-11927742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138624317	chr2:11927747-11927748	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs79746027	chr2:11927752-11927753	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570178029	chr2:11927817-11927818	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544428177	chr2:11927873-11927874	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7423733	chr2:11927886-11927887	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150030235	chr2:11927907-11927908	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530037778	chr2:11927909-11927910	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370975538	chr2:11927921-11927922	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566442913	chr2:11927930-11927931	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527343723	chr2:11927935-11927936	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189392315	chr2:11927942-11927943	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181411462	chr2:11927946-11927947	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7573199	chr2:11927983-11927984	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538005017	chr2:11927991-11927992	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368857832	chr2:11928016-11928017	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556362840	chr2:11928023-11928024	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568383024	chr2:11928024-11928025	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375747333	chr2:11928059-11928060	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs80029830	chr2:11928066-11928067	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371620891	chr2:11928084-11928085	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184227954	chr2:11928092-11928093	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554069766	chr2:11928111-11928112	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189024008	chr2:11928125-11928126	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545915185	chr2:11928137-11928138	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534939714	chr2:11928168-11928169	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs149216168	chr2:11928204-11928205	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181632383	chr2:11928205-11928206	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576462236	chr2:11928226-11928227	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs146931594	chr2:11928249-11928250	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562687524	chr2:11928278-11928279	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11916800-11961200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:11919400-11940400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:11919400-11943400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:11919400-11961800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:11919600-11930400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:11919600-11940800	Strong transcription	Left Ventricle	heart
7	chr2:11919600-11940800	Strong transcription	NHEK	skin
8	chr2:11919600-11968400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:11919800-11930000	Strong transcription	Thymus	Thymus
10	chr2:11919800-11933600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:11919800-11934400	Strong transcription	K562	blood
12	chr2:11919800-11937600	Strong transcription	HepG2	liver
13	chr2:11919800-11939600	Strong transcription	Fetal Thymus	thymus
14	chr2:11919800-11940000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:11919800-11940000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:11919800-11940400	Strong transcription	Dnd41	blood
17	chr2:11919800-11940600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:11919800-11940600	Strong transcription	Placenta	Placenta
19	chr2:11919800-11948400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:11919800-11949000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:11919800-11957600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:11919800-11957800	Strong transcription	Primary T cells from cord blood	blood
23	chr2:11919800-11959200	Strong transcription	Liver	Liver
24	chr2:11919800-11960400	Weak transcription	Stomach Mucosa	stomach
25	chr2:11919800-11963200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr2:11919800-11967600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:11919800-11968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:11919800-11968800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:11920000-11936800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:11920000-11940400	Strong transcription	HMEC	breast
31	chr2:11920000-11941000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:11920200-11929400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:11920200-11931000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:11920200-11934000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:11920200-11937200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:11920200-11939600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:11920200-11940800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:11920400-11939800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:11920400-11940400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:11920400-11940400	Strong transcription	Gastric	stomach
41	chr2:11920600-11927600	Strong transcription	A549	lung
42	chr2:11920600-11931000	Strong transcription	Spleen	Spleen
43	chr2:11921400-11928600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:11922600-11929200	Strong transcription	GM12878-XiMat	blood
45	chr2:11923200-11930800	Strong transcription	Rectal Smooth Muscle	rectum
46	chr2:11923600-11928800	Strong transcription	Colon Smooth Muscle	Colon
47	chr2:11923800-11928200	Weak transcription	Psoas Muscle	Psoas
48	chr2:11924600-11947800	Weak transcription	Right Atrium	heart
49	chr2:11925200-11927600	Strong transcription	HUVEC	blood vessel
50	chr2:11925200-11928800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links