Variant report

Variant	esv3374122
Chromosome Location	chr2:10151526-10154274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10147171..10148722-chr2:10150073..10151791,3	K562	blood:
2	chr2:10152022..10153719-chr2:10160507..10163452,2	MCF-7	breast:
3	chr2:10148714..10150676-chr2:10152229..10153770,2	MCF-7	breast:
4	chr2:10147491..10150465-chr2:10152525..10155691,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260476	chromatin interactions

Extended variants
information (count: 222 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:222 , 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	rs538705858	chr2:10151542-10151543	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs377115823	chr2:10151543-10151544	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371359232	chr2:10151546-10151547	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572404679	chr2:10151551-10151552	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs112087143	chr2:10151568-10151569	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs11682938	chr2:10151569-10151570	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111346717	chr2:10151577-10151578	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs554878539	chr2:10151597-10151598	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574563839	chr2:10151608-10151609	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191992993	chr2:10151609-10151610	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376218289	chr2:10151632-10151633	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78851314	chr2:10151659-10151660	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563238862	chr2:10151669-10151670	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202197885	chr2:10151691-10151692	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373425752	chr2:10151718-10151719	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113822676	chr2:10151729-10151730	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73162292	chr2:10151751-10151752	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558905474	chr2:10151754-10151755	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528006107	chr2:10151755-10151756	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547705500	chr2:10151758-10151759	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181899654	chr2:10151788-10151789	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575293131	chr2:10151801-10151802	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550347507	chr2:10151814-10151815	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115234590	chr2:10151818-10151819	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112310597	chr2:10151822-10151823	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372480477	chr2:10151839-10151840	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74749254	chr2:10151847-10151848	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375909332	chr2:10151867-10151868	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113758650	chr2:10151868-10151869	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142880071	chr2:10151876-10151877	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539107981	chr2:10151898-10151899	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113358836	chr2:10151905-10151906	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552631737	chr2:10151916-10151917	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200549582	chr2:10151965-10151966	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113575607	chr2:10151967-10151968	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202073227	chr2:10151968-10151969	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113966564	chr2:10151974-10151975	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62127509	chr2:10151987-10151988	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566103756	chr2:10151995-10151996	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62127510	chr2:10151996-10151997	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371650180	chr2:10152006-10152007	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs76767049	chr2:10152016-10152017	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534983924	chr2:10152046-10152047	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs554914283	chr2:10152050-10152051	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368999570	chr2:10152053-10152054	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113546756	chr2:10152061-10152062	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112114543	chr2:10152072-10152073	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147278568	chr2:10152075-10152076	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370872127	chr2:10152083-10152084	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs536893851	chr2:10152102-10152103	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10141600-10160200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:10148200-10151800	Enhancers	Lung	lung
3	chr2:10148800-10153000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:10149200-10151600	Enhancers	Spleen	Spleen
5	chr2:10149200-10152000	Enhancers	Gastric	stomach
6	chr2:10149600-10152400	Enhancers	Adipose Nuclei	Adipose
7	chr2:10150800-10151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:10150800-10151600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:10150800-10153600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:10151000-10153200	Weak transcription	Ovary	ovary
11	chr2:10151200-10151600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:10151200-10151600	Weak transcription	Esophagus	oesophagus
13	chr2:10151200-10151600	Enhancers	Pancreas	Pancrea
14	chr2:10151200-10151600	Weak transcription	Right Ventricle	heart
15	chr2:10151200-10152400	Active TSS	Liver	Liver
16	chr2:10151200-10152400	Weak transcription	Placenta	Placenta
17	chr2:10151200-10152600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:10151200-10154600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:10151200-10155000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:10151600-10151800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:10151600-10151800	Flanking Active TSS	Pancreas	Pancrea
22	chr2:10151600-10151800	Enhancers	Right Ventricle	heart
23	chr2:10151600-10151800	Genic enhancers	Spleen	Spleen
24	chr2:10151600-10152200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:10151600-10155200	ZNF genes & repeats	Esophagus	oesophagus
26	chr2:10151800-10152000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:10151800-10152000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:10151800-10152000	Enhancers	Spleen	Spleen
29	chr2:10151800-10153000	Weak transcription	Lung	lung
30	chr2:10151800-10153000	Weak transcription	Right Ventricle	heart
31	chr2:10151800-10153400	Enhancers	Pancreas	Pancrea
32	chr2:10152000-10152200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:10152000-10153000	Weak transcription	Spleen	Spleen
34	chr2:10152000-10154200	Weak transcription	Gastric	stomach
35	chr2:10152200-10152400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:10152200-10153000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:10152200-10153200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:10152400-10153400	Enhancers	Placenta	Placenta
39	chr2:10152400-10156200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:10152400-10156200	Weak transcription	Adipose Nuclei	Adipose
41	chr2:10152400-10156200	Weak transcription	Liver	Liver
42	chr2:10152600-10153000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:10153000-10153200	Enhancers	Right Ventricle	heart
44	chr2:10153000-10153400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:10153000-10153400	Enhancers	Lung	lung
46	chr2:10153000-10153600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:10153000-10154800	ZNF genes & repeats	Spleen	Spleen
48	chr2:10153200-10153400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:10153200-10153400	Enhancers	Ovary	ovary
50	chr2:10153200-10153400	Enhancers	Skeletal Muscle Male	skeletal muscle

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