Variant report

Variant	esv3330722
Chromosome Location	chr2:9916512-9917205
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9912711..9914278-chr2:9916005..9917523,2	MCF-7	breast:
2	chr2:9910788..9914069-chr2:9915018..9918206,3	K562	blood:
3	chr2:9913973..9917175-chr2:9918406..9921250,3	K562	blood:
4	chr2:9769198..9773144-chr2:9916945..9918889,4	MCF-7	breast:
5	chr2:9916806..9919291-chr2:9935461..9938460,2	MCF-7	breast:
6	chr2:9900453..9903358-chr2:9916510..9918074,2	K562	blood:
7	chr2:9911818..9914700-chr2:9914893..9917161,2	K562	blood:
8	chr2:9916943..9919490-chr2:9982481..9984909,2	MCF-7	breast:
9	chr2:9916325..9919455-chr2:9921227..9924824,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134308	chromatin interactions
ENSG00000115750	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559635075	chr2:9916528-9916529	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72780911	chr2:9916532-9916533	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572024014	chr2:9916538-9916539	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs59457726	chr2:9916545-9916546	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560866665	chr2:9916604-9916605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374500131	chr2:9916610-9916611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182093592	chr2:9916625-9916626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185112283	chr2:9916647-9916648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371321927	chr2:9916679-9916680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188942192	chr2:9916687-9916688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140157869	chr2:9916692-9916693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75275734	chr2:9916775-9916776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181342956	chr2:9916796-9916797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547915264	chr2:9916799-9916800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533881467	chr2:9916838-9916839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567422950	chr2:9916867-9916868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536204027	chr2:9916885-9916886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549778089	chr2:9916886-9916887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533464788	chr2:9916918-9916919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569586126	chr2:9916947-9916948	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112581667	chr2:9917001-9917002	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs372613356	chr2:9917022-9917023	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs190637996	chr2:9917026-9917027	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs375687691	chr2:9917039-9917040	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs368252947	chr2:9917042-9917043	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs61562988	chr2:9917043-9917044	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs60652074	chr2:9917051-9917052	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374609535	chr2:9917062-9917063	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs60210954	chr2:9917082-9917083	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs61387807	chr2:9917093-9917094	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376708734	chr2:9917097-9917098	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs70948844	chr2:9917099-9917100	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201503115	chr2:9917100-9917101	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs376781096	chr2:9917103-9917104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369261716	chr2:9917104-9917105	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs538952445	chr2:9917127-9917128	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs115332512	chr2:9917150-9917151	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572251215	chr2:9917193-9917194	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs534523093	chr2:9917194-9917195	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs554665859	chr2:9917199-9917200	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Neuroblastoma	18923524	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9909200-9919200	Weak transcription	Thymus	Thymus
2	chr2:9910600-9919000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:9911000-9918200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:9911000-9918400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:9911200-9918200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:9911400-9919800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:9911800-9922400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:9912000-9918000	Weak transcription	Fetal Thymus	thymus
9	chr2:9912200-9917200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:9912400-9918200	Weak transcription	Esophagus	oesophagus
11	chr2:9912400-9918200	Weak transcription	Gastric	stomach
12	chr2:9912400-9921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:9912400-9923000	Weak transcription	Right Atrium	heart
14	chr2:9913800-9917800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:9914600-9917400	Weak transcription	Spleen	Spleen
16	chr2:9914800-9919000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:9914800-9920000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:9914800-9922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:9915000-9918000	Weak transcription	Fetal Intestine Large	intestine
20	chr2:9915000-9918000	Weak transcription	Fetal Intestine Small	intestine
21	chr2:9915000-9918200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:9915000-9918400	Weak transcription	Adipose Nuclei	Adipose
23	chr2:9915000-9924800	Weak transcription	Left Ventricle	heart
24	chr2:9916000-9916600	Enhancers	Right Ventricle	heart
25	chr2:9916200-9916600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr2:9916400-9916600	Enhancers	Lung	lung
27	chr2:9916600-9917200	Weak transcription	Right Ventricle	heart
28	chr2:9917200-9917400	Enhancers	Right Ventricle	heart
29	chr2:9917200-9920000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links