Variant report

Variant	esv3439050
Chromosome Location	chr2:10539751-10542249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10409644..10411196-chr2:10538400..10540753,2	MCF-7	breast:
2	chr2:10533744..10537127-chr2:10539374..10542865,3	K562	blood:
3	chr2:10537541..10541103-chr2:10547321..10550436,3	MCF-7	breast:
4	chr2:10539200..10541759-chr2:10543040..10545009,3	K562	blood:
5	chr2:10539665..10541710-chr2:10544795..10547261,2	MCF-7	breast:
6	chr2:10538831..10544260-chr2:10544573..10548851,6	K562	blood:
7	chr2:10528701..10530809-chr2:10537442..10539772,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555600616	chr2:10539789-10539790	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191762163	chr2:10539832-10539833	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547038091	chr2:10539833-10539834	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369829501	chr2:10539873-10539874	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539181826	chr2:10539874-10539875	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62130183	chr2:10539880-10539881	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569725768	chr2:10539889-10539890	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73163041	chr2:10539924-10539925	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs35484237	chr2:10539967-10539968	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557862467	chr2:10539968-10539969	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114035966	chr2:10539970-10539971	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116420139	chr2:10539995-10539996	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183140584	chr2:10539999-10540000	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546863572	chr2:10540002-10540003	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs80152269	chr2:10540132-10540133	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs573638052	chr2:10540169-10540170	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs138138976	chr2:10540172-10540173	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs575706938	chr2:10540174-10540175	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs543209057	chr2:10540180-10540181	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs561421725	chr2:10540193-10540194	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs35158739	chr2:10540199-10540200	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs116203326	chr2:10540200-10540201	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557870635	chr2:10540221-10540222	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs4668681	chr2:10540228-10540229	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4668682	chr2:10540239-10540240	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114284712	chr2:10540247-10540248	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs565058792	chr2:10540250-10540251	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs4668683	chr2:10540251-10540252	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186498266	chr2:10540297-10540298	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370909288	chr2:10540304-10540305	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563828495	chr2:10540313-10540314	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs114940555	chr2:10540324-10540325	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs4668684	chr2:10540330-10540331	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140795314	chr2:10540335-10540336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189902565	chr2:10540342-10540343	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs578046246	chr2:10540343-10540344	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs539043466	chr2:10540348-10540349	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs116516024	chr2:10540368-10540369	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575741959	chr2:10540370-10540371	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs143158037	chr2:10540371-10540372	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs4668685	chr2:10540386-10540387	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147508061	chr2:10540404-10540405	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs148549318	chr2:10540416-10540417	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs182217510	chr2:10540417-10540418	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs532728516	chr2:10540442-10540443	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186489441	chr2:10540452-10540453	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs35535089	chr2:10540460-10540461	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs563226025	chr2:10540475-10540476	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs145813151	chr2:10540482-10540483	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs551451718	chr2:10540524-10540525	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10523000-10541000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:10527200-10542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:10530000-10540800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:10530400-10540800	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:10530600-10539800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:10530600-10544400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:10531000-10539800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:10531000-10540600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:10531000-10542400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:10531000-10544600	Weak transcription	NHLF	lung
11	chr2:10531200-10539800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:10531200-10542400	Weak transcription	HSMMtube	muscle
13	chr2:10531200-10542400	Weak transcription	NH-A	brain
14	chr2:10531200-10544200	Weak transcription	Brain Substantia Nigra	brain
15	chr2:10531400-10539800	Weak transcription	HSMM	muscle
16	chr2:10531400-10541600	Weak transcription	Osteobl	bone
17	chr2:10533000-10540200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:10533000-10551800	Weak transcription	Ovary	ovary
19	chr2:10533400-10549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:10533600-10539800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:10533600-10539800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:10533600-10544200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:10533600-10544200	Weak transcription	Fetal Brain Female	brain
24	chr2:10533800-10539800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:10533800-10539800	Weak transcription	Colonic Mucosa	Colon
26	chr2:10533800-10539800	Weak transcription	Right Atrium	heart
27	chr2:10533800-10539800	Weak transcription	HepG2	liver
28	chr2:10534000-10539800	Weak transcription	HMEC	breast
29	chr2:10534000-10540600	Weak transcription	Esophagus	oesophagus
30	chr2:10534000-10540800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:10534000-10541000	Strong transcription	Fetal Intestine Small	intestine
32	chr2:10534000-10545400	Weak transcription	Fetal Lung	lung
33	chr2:10536000-10541400	Genic enhancers	Spleen	Spleen
34	chr2:10536200-10541600	Strong transcription	Fetal Stomach	stomach
35	chr2:10536600-10540600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:10536800-10540000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:10536800-10540400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:10537000-10540600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:10537000-10540600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:10537000-10543000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:10537000-10543400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr2:10537400-10540200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:10537400-10541200	Enhancers	Adipose Nuclei	Adipose
44	chr2:10537400-10542600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:10537400-10542600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:10537400-10542800	Enhancers	Left Ventricle	heart
47	chr2:10537600-10539800	Strong transcription	Pancreas	Pancrea
48	chr2:10537600-10542600	Genic enhancers	Lung	lung
49	chr2:10537800-10540000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:10537800-10540600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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