Variant report

Variant	esv3406934
Chromosome Location	chr2:11220126-11222674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11221296..11223219-chr2:11223373..11224955,2	MCF-7	breast:
2	chr2:11219892..11221971-chr2:11224243..11226682,2	MCF-7	breast:
3	chr2:11217637..11219287-chr2:11222493..11224652,2	MCF-7	breast:
4	chr2:11214515..11217440-chr2:11219312..11221040,2	K562	blood:
5	chr2:11212343..11214819-chr2:11221166..11223502,2	MCF-7	breast:
6	chr2:11192261..11193853-chr2:11219534..11222472,2	MCF-7	breast:

Extended variants
information (count: 127 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12986438	chr2:11220127-11220128	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562532654	chr2:11220186-11220187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147150630	chr2:11220215-11220216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112686086	chr2:11220227-11220228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183933977	chr2:11220233-11220234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186441860	chr2:11220238-11220239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377166767	chr2:11220242-11220243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115701747	chr2:11220254-11220255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570419616	chr2:11220259-11220260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112002231	chr2:11220261-11220262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549583600	chr2:11220265-11220266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534629984	chr2:11220287-11220288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557614483	chr2:11220291-11220292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189676422	chr2:11220294-11220295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182276330	chr2:11220295-11220296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572399675	chr2:11220298-11220299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539450109	chr2:11220302-11220303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536666610	chr2:11220310-11220311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556866797	chr2:11220314-11220315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186980167	chr2:11220318-11220319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149699794	chr2:11220322-11220323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55730272	chr2:11220326-11220327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371653171	chr2:11220329-11220330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55695647	chr2:11220330-11220331	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs75529155	chr2:11220334-11220335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544003124	chr2:11220335-11220336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562243136	chr2:11220338-11220339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554754868	chr2:11220340-11220341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139339099	chr2:11220341-11220342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574317491	chr2:11220342-11220343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs70953359	chr2:11220348-11220349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541898526	chr2:11220349-11220350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560038885	chr2:11220350-11220351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192874211	chr2:11220351-11220352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200770286	chr2:11220354-11220355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146485072	chr2:11220355-11220356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112787365	chr2:11220359-11220360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144868727	chr2:11220422-11220423	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183147567	chr2:11220429-11220430	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567900763	chr2:11220543-11220544	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529121237	chr2:11220556-11220557	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6739054	chr2:11220562-11220563	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance disease
43	rs146796167	chr2:11220577-11220578	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539783501	chr2:11220604-11220605	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140432883	chr2:11220651-11220652	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371581570	chr2:11220676-11220677	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570092710	chr2:11220709-11220710	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150434104	chr2:11220810-11220811	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6724670	chr2:11220831-11220832	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138185488	chr2:11220855-11220856	Bivalent/Poised TSS Enhancers Genic enhancers 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
Acute myeloid leukemia	21251322	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11219200-11220200	Enhancers	Brain Germinal Matrix	brain
2	chr2:11219200-11220600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:11219200-11220600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:11219200-11221000	Enhancers	Spleen	Spleen
5	chr2:11219200-11221200	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:11219400-11220600	Enhancers	Fetal Muscle Leg	muscle
7	chr2:11219400-11220800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:11219400-11220800	Enhancers	Brain Substantia Nigra	brain
9	chr2:11219400-11221000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:11219600-11220400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:11219600-11220400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:11219600-11220600	Enhancers	Brain Hippocampus Middle	brain
13	chr2:11219800-11220600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:11220200-11220800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:11220400-11220600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:11220400-11220800	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:11220400-11220800	Enhancers	Fetal Brain Female	brain
18	chr2:11220400-11221000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:11220400-11221200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:11220600-11221000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:11220600-11226200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:11220800-11221000	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:11220800-11221000	Enhancers	Brain Germinal Matrix	brain
24	chr2:11220800-11225800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:11221200-11221400	Enhancers	HSMM	muscle
26	chr2:11221200-11233000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:11221800-11222000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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