Variant report

Variant	esv3460094
Chromosome Location	chr2:11583401-11588699
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:13)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11481635..11483392-chr2:11587515..11589099,2	MCF-7	breast:
2	chr2:11272301..11273238-chr2:11586520..11587499,3	K562	blood:
3	chr2:11587956..11589833-chr2:11597471..11599189,2	K562	blood:
4	chr2:11587960..11589661-chr2:11602311..11604128,2	MCF-7	breast:
5	chr2:11584998..11586876-chr2:11587332..11589315,2	K562	blood:
6	chr2:11585540..11588575-chr2:11588932..11591157,3	K562	blood:
7	chr2:11584998..11586876-chr2:11587332..11589315,2	K562	blood:
8	chr2:11587382..11589670-chr2:11589924..11591433,2	MCF-7	breast:
9	chr2:11584997..11587520-chr2:11589307..11593434,3	MCF-7	breast:
10	chr2:11272148..11273038-chr2:11586530..11587220,2	MCF-7	breast:
11	chr2:11586966..11589514-chr2:11592035..11594958,3	K562	blood:
12	chr2:11584170..11586792-chr2:11598194..11600581,2	MCF-7	breast:
13	chr2:11374637..11376934-chr2:11585724..11587357,2	MCF-7	breast:
14	chr2:11578835..11581557-chr2:11582606..11584299,2	K562	blood:
15	chr2:11576851..11579417-chr2:11587308..11589140,2	K562	blood:
16	chr2:11582548..11585072-chr2:11589512..11591069,2	K562	blood:
17	chr2:11586759..11588564-chr2:11595256..11597044,2	K562	blood:
18	chr2:11272466..11273370-chr2:11586539..11587532,3	MCF-7	breast:
19	chr2:11578661..11580841-chr2:11582473..11584908,4	MCF-7	breast:
20	chr2:11583321..11585484-chr2:11620633..11622396,2	MCF-7	breast:

No data

(count:13 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	E2F6	hsa-miR-98-5p	chr2:11585579-11585605
2	E2F6	hsa-miR-193b-3p	chr2:11586468-11586488
3	E2F6	hsa-miR-124-3p	chr2:11586235-11586229
4	E2F6	hsa-let-7b-5p	chr2:11585585-11585578
5	E2F6	hsa-let-7b-5p	chr2:11585579-11585602
6	E2F6	hsa-miR-193a-3p	chr2:11586474-11586467
7	E2F6	hsa-miR-137	chr2:11586522-11586515
8	E2F6	hsa-miR-28-5p	chr2:11585516-11585510
9	E2F6	hsa-miR-193a-3p	chr2:11586468-11586488
10	E2F6	hsa-miR-98-5p	chr2:11585585-11585578
11	E2F6	hsa-miR-28-5p	chr2:11585510-11585531
12	E2F6	hsa-miR-193b-3p	chr2:11586474-11586467
13	E2F6	hsa-miR-137	chr2:11586516-11586539

Variant related genes	Relation type
ENSG00000134318	chromatin interactions
ENSG00000169016	chromatin interactions
ENSG00000269074	chromatin interactions
ENSG00000150873	chromatin interactions
ENSG00000145063	chromatin interactions

Extended variants
information (count: 235 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:235 , 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	rs547256782	chr2:11583410-11583411	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs543617132	chr2:11583438-11583439	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs35811122	chr2:11583447-11583448	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562085578	chr2:11583455-11583456	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs574068600	chr2:11583471-11583472	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs541074902	chr2:11583472-11583473	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs559651414	chr2:11583515-11583516	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs187195464	chr2:11583535-11583536	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs551456220	chr2:11583566-11583567	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs148980618	chr2:11583593-11583594	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs563624383	chr2:11583597-11583598	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs58330220	chr2:11583630-11583631	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs567066976	chr2:11583634-11583635	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs180727626	chr2:11583651-11583652	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs568105518	chr2:11583732-11583733	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs185026629	chr2:11583746-11583747	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs547082415	chr2:11583748-11583749	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs189836335	chr2:11583756-11583757	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs539177913	chr2:11583771-11583772	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs114215166	chr2:11583798-11583799	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs72770183	chr2:11583803-11583804	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs182524166	chr2:11583809-11583810	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145911493	chr2:11583821-11583822	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs569504763	chr2:11583827-11583828	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs555495447	chr2:11583838-11583839	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs117034215	chr2:11583877-11583878	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541486559	chr2:11583888-11583889	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs138470271	chr2:11583889-11583890	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs116382424	chr2:11583906-11583907	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs56349899	chr2:11583928-11583929	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs145191277	chr2:11583945-11583946	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs554527446	chr2:11583963-11583964	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531100829	chr2:11583980-11583981	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs6432193	chr2:11583997-11583998	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561486986	chr2:11584040-11584041	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs529003078	chr2:11584052-11584053	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs547437028	chr2:11584074-11584075	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs576037869	chr2:11584075-11584076	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs565768754	chr2:11584113-11584114	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs533002098	chr2:11584175-11584176	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs551383966	chr2:11584180-11584181	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11687178	chr2:11584197-11584198	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148009953	chr2:11584212-11584213	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs11693023	chr2:11584267-11584268	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187166708	chr2:11584286-11584287	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs567419931	chr2:11584323-11584324	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs80069298	chr2:11584333-11584334	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs114023187	chr2:11584350-11584351	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs577713155	chr2:11584354-11584355	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545042599	chr2:11584355-11584356	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	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
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11546600-11584200	Weak transcription	Pancreas	Pancrea
2	chr2:11560400-11584000	Weak transcription	Aorta	Aorta
3	chr2:11563000-11583800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:11563000-11586800	Weak transcription	Psoas Muscle	Psoas
5	chr2:11572400-11583800	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:11572600-11588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:11575000-11584800	Weak transcription	Esophagus	oesophagus
8	chr2:11575200-11584000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:11575400-11583800	Weak transcription	Osteobl	bone
10	chr2:11575600-11584000	Weak transcription	Right Ventricle	heart
11	chr2:11575600-11586800	Weak transcription	NHEK	skin
12	chr2:11575800-11584000	Weak transcription	HMEC	breast
13	chr2:11575800-11597000	Weak transcription	Fetal Heart	heart
14	chr2:11576000-11586800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:11576400-11583800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:11576600-11586600	Weak transcription	Brain Substantia Nigra	brain
17	chr2:11576800-11583600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:11576800-11585000	Weak transcription	Hela-S3	cervix
19	chr2:11576800-11586600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:11577000-11589200	Weak transcription	Small Intestine	intestine
21	chr2:11577400-11584400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:11577600-11585000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr2:11577600-11603800	Weak transcription	Colonic Mucosa	Colon
24	chr2:11577800-11586600	Weak transcription	NHDF-Ad	bronchial
25	chr2:11578200-11583800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:11578200-11584200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:11578200-11585200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:11578400-11583800	Weak transcription	HUVEC	blood vessel
29	chr2:11578600-11585000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:11578600-11587200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:11578600-11594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:11578800-11584200	Weak transcription	HSMM	muscle
33	chr2:11579000-11584200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:11579000-11585000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:11579000-11586800	Weak transcription	Stomach Mucosa	stomach
36	chr2:11579000-11604800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:11579200-11585600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:11579200-11594000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:11579400-11587200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:11579800-11590600	Strong transcription	Primary T cells from cord blood	blood
41	chr2:11580000-11585000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:11580000-11585600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:11580000-11586600	Weak transcription	Brain Anterior Caudate	brain
44	chr2:11580000-11593800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:11580200-11588400	Weak transcription	Fetal Kidney	kidney
46	chr2:11580200-11588600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:11580200-11604000	Weak transcription	Fetal Brain Male	brain
48	chr2:11580400-11583600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:11580400-11584000	Weak transcription	NHLF	lung
50	chr2:11580400-11585200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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