Variant report

Variant	esv3447978
Chromosome Location	chr2:47103648-47107146
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47105796..47108295-chr2:47125908..47128016,2	MCF-7	breast:
2	chr2:47029862..47030805-chr2:47103672..47104853,5	MCF-7	breast:
3	chr2:46859559..46860170-chr2:47103480..47104015,2	MCF-7	breast:
4	chr2:47102971..47104916-chr2:47106990..47109724,2	K562	blood:
5	chr2:46843927..46845540-chr2:47104189..47106178,2	K562	blood:
6	chr2:47105936..47108502-chr2:47120489..47122812,2	K562	blood:
7	chr2:47102971..47104916-chr2:47106990..47109724,2	K562	blood:
8	chr2:46883974..46884708-chr2:47103987..47104519,2	MCF-7	breast:
9	chr2:47104590..47107409-chr2:47107469..47109857,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151665	chromatin interactions
ENSG00000119878	chromatin interactions
ENSG00000228925	chromatin interactions

Extended variants
information (count: 190 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112589044	chr2:47103658-47103659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112361201	chr2:47103662-47103663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12465183	chr2:47103684-47103685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529054395	chr2:47103726-47103727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12997397	chr2:47103727-47103728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554194090	chr2:47103773-47103774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13023862	chr2:47103788-47103789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13023863	chr2:47103792-47103793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533013221	chr2:47103796-47103797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551410665	chr2:47103809-47103810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566841080	chr2:47103813-47103814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185634561	chr2:47103830-47103831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549452401	chr2:47103833-47103834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12997623	chr2:47103853-47103854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188500032	chr2:47103882-47103883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75021190	chr2:47103922-47103923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139178179	chr2:47103928-47103929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74925145	chr2:47103931-47103932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578229258	chr2:47103939-47103940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76844703	chr2:47103969-47103970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554204074	chr2:47103983-47103984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17035823	chr2:47103998-47103999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs149510757	chr2:47104004-47104005	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs144034182	chr2:47104055-47104056	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs573362247	chr2:47104079-47104080	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs543907255	chr2:47104080-47104081	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs562316051	chr2:47104086-47104087	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs373431521	chr2:47104131-47104132	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs533371615	chr2:47104213-47104214	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs551630172	chr2:47104215-47104216	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs545137412	chr2:47104265-47104266	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs184221674	chr2:47104272-47104273	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs549354588	chr2:47104276-47104277	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs560620460	chr2:47104295-47104296	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527828622	chr2:47104318-47104319	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549349776	chr2:47104426-47104427	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538311991	chr2:47104467-47104468	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs148648415	chr2:47104473-47104474	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs188585788	chr2:47104476-47104477	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs60101351	chr2:47104520-47104521	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114825106	chr2:47104536-47104537	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs144285511	chr2:47104548-47104549	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540901908	chr2:47104575-47104576	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562371718	chr2:47104577-47104578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs547833169	chr2:47104587-47104588	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs573325428	chr2:47104628-47104629	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs553757814	chr2:47104637-47104638	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs543871831	chr2:47104646-47104647	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs534464170	chr2:47104689-47104690	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs555866874	chr2:47104700-47104701	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47094000-47104200	Weak transcription	Gastric	stomach
2	chr2:47095200-47104200	Weak transcription	Pancreas	Pancrea
3	chr2:47096200-47105000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:47096600-47106400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
6	chr2:47098800-47106600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:47099600-47106200	Enhancers	Osteobl	bone
8	chr2:47099600-47106800	Enhancers	NHLF	lung
9	chr2:47099800-47103800	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:47099800-47106200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:47100000-47104600	Enhancers	Colon Smooth Muscle	Colon
12	chr2:47100000-47104600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:47100000-47106200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:47100000-47106400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:47100200-47104800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:47100400-47105200	Enhancers	Fetal Heart	heart
17	chr2:47101200-47104200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:47101200-47104200	Weak transcription	Colonic Mucosa	Colon
19	chr2:47101200-47104200	Weak transcription	Fetal Intestine Large	intestine
20	chr2:47101200-47104200	Weak transcription	Fetal Intestine Small	intestine
21	chr2:47101200-47104800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:47101200-47105200	Weak transcription	Brain Angular Gyrus	brain
23	chr2:47101200-47105600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:47101200-47105800	Weak transcription	Brain Anterior Caudate	brain
25	chr2:47101200-47106200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:47101400-47104200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:47101400-47104200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:47101400-47104200	Weak transcription	Esophagus	oesophagus
29	chr2:47101400-47104800	Weak transcription	Spleen	Spleen
30	chr2:47101400-47105400	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:47101400-47106600	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:47101600-47103800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:47101600-47104000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:47101600-47104000	Weak transcription	NHEK	skin
35	chr2:47101600-47104200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:47101600-47104200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:47101600-47104200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:47101600-47104200	Enhancers	A549	lung
39	chr2:47101600-47105400	Weak transcription	Brain Substantia Nigra	brain
40	chr2:47101800-47103800	Weak transcription	HMEC	breast
41	chr2:47101800-47104000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:47101800-47104200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:47101800-47104200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr2:47101800-47105600	Weak transcription	HUVEC	blood vessel
45	chr2:47102000-47106400	Enhancers	HepG2	liver
46	chr2:47102200-47104000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:47102200-47104000	Weak transcription	NH-A	brain
48	chr2:47102200-47104200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:47102200-47105800	Enhancers	K562	blood
50	chr2:47102200-47108400	Weak transcription	Adipose Nuclei	Adipose

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