Variant report

Variant	esv3400087
Chromosome Location	chr2:10652051-10654299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10651055..10653921-chr2:10663036..10664618,2	K562	blood:
2	chr2:10642578..10644778-chr2:10652202..10654281,2	K562	blood:
3	chr17:28049273..28050134-chr2:10654185..10655075,2	MCF-7	breast:

Extended variants
information (count: 112 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10929672	chr2:10652053-10652054	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192911653	chr2:10652064-10652065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572780860	chr2:10652135-10652136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143224737	chr2:10652140-10652141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200710557	chr2:10652191-10652192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111644386	chr2:10652197-10652198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1997241	chr2:10652249-10652250	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376038738	chr2:10652253-10652254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551519807	chr2:10652255-10652256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs70948894	chr2:10652282-10652283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397763130	chr2:10652286-10652287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544005862	chr2:10652290-10652291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62128565	chr2:10652292-10652293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11691458	chr2:10652294-10652295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372460773	chr2:10652295-10652296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1728141	chr2:10652296-10652297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76799629	chr2:10652298-10652299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71413915	chr2:10652304-10652305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61260668	chr2:10652311-10652312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541715994	chr2:10652341-10652342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139128034	chr2:10652375-10652376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559966097	chr2:10652402-10652403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537484921	chr2:10652426-10652427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184200235	chr2:10652435-10652436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527590367	chr2:10652439-10652440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149939651	chr2:10652444-10652445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570778164	chr2:10652488-10652489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531809330	chr2:10652538-10652539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145068423	chr2:10652539-10652540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372392324	chr2:10652545-10652546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555758323	chr2:10652580-10652581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568668814	chr2:10652605-10652606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536187983	chr2:10652716-10652717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536009345	chr2:10652740-10652741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188609508	chr2:10652764-10652765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149124071	chr2:10652804-10652805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539768773	chr2:10652828-10652829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567928958	chr2:10652835-10652836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376650843	chr2:10652857-10652858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558505172	chr2:10652869-10652870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371237332	chr2:10652880-10652881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368895661	chr2:10652913-10652914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372154286	chr2:10652914-10652915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375200084	chr2:10652915-10652916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375111759	chr2:10652926-10652927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576800769	chr2:10652941-10652942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566770354	chr2:10652970-10652971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544283911	chr2:10652973-10652974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368264628	chr2:10652993-10652994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3061299	chr2:10653002-10653003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10634800-10654400	Weak transcription	Right Atrium	heart
2	chr2:10645600-10658200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:10648600-10654000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:10652000-10652600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr2:10652400-10652600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:10652400-10652600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:10652400-10652600	Enhancers	HMEC	breast
8	chr2:10652600-10653400	Weak transcription	HMEC	breast
9	chr2:10652600-10655400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:10652800-10654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:10652800-10654400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:10653400-10656000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:10653400-10656000	Enhancers	HMEC	breast
14	chr2:10654000-10655000	Enhancers	NH-A	brain
15	chr2:10654000-10655600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:10654000-10655800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:10654000-10655800	Enhancers	NHEK	skin
18	chr2:10654200-10654400	Enhancers	Hela-S3	cervix
19	chr2:10654200-10654600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr2:10654200-10654800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:10654200-10655000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:10654200-10655600	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links