Variant report

Variant	esv3426610
Chromosome Location	chr2:39111093-39111607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39102843..39105265-chr2:39108661..39111288,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188010	chromatin interactions
ENSG00000163214	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147035115	chr2:39111138-39111139	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527791687	chr2:39111151-39111152	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs138334620	chr2:39111161-39111162	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs552184581	chr2:39111229-39111230	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs189099477	chr2:39111267-39111268	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs13018681	chr2:39111270-39111271	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs538398845	chr2:39111273-39111274	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550527197	chr2:39111280-39111281	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs80352576	chr2:39111330-39111331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111423852	chr2:39111342-39111343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568746038	chr2:39111351-39111352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143905069	chr2:39111390-39111391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375570573	chr2:39111402-39111403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553797116	chr2:39111413-39111414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3099951	chr2:39111430-39111431	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs72797401	chr2:39111453-39111454	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115065238	chr2:39111471-39111472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181551079	chr2:39111561-39111562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370203637	chr2:39111603-39111604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
T-cell prolymphocytic leukemia	19278963	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
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39103800-39113400	Weak transcription	Pancreas	Pancrea
2	chr2:39103800-39113400	Weak transcription	HSMMtube	muscle
3	chr2:39103800-39114000	Weak transcription	Lung	lung
4	chr2:39103800-39120200	Weak transcription	Left Ventricle	heart
5	chr2:39104000-39111200	Weak transcription	HUVEC	blood vessel
6	chr2:39104000-39112600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:39104000-39112600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:39104000-39113200	Weak transcription	Right Ventricle	heart
9	chr2:39104000-39113400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:39104000-39114200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:39104200-39111200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:39104200-39111200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:39104200-39111200	Weak transcription	Osteobl	bone
14	chr2:39104200-39111400	Weak transcription	HSMM	muscle
15	chr2:39104200-39111800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:39104200-39111800	Weak transcription	Fetal Kidney	kidney
17	chr2:39104200-39112000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:39104200-39112000	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:39104200-39112000	Weak transcription	NHDF-Ad	bronchial
20	chr2:39104200-39112200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:39104200-39112400	Weak transcription	Fetal Intestine Small	intestine
22	chr2:39104200-39112600	Weak transcription	Brain Angular Gyrus	brain
23	chr2:39104200-39112800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:39104200-39113400	Weak transcription	Fetal Intestine Large	intestine
25	chr2:39104200-39113400	Weak transcription	Psoas Muscle	Psoas
26	chr2:39104200-39113400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:39104200-39113800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:39104200-39113800	Weak transcription	Fetal Lung	lung
29	chr2:39104200-39114400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:39104200-39114400	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:39104200-39114800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:39104200-39114800	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:39104200-39115800	Weak transcription	Brain Germinal Matrix	brain
34	chr2:39104200-39119400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:39104200-39122200	Weak transcription	Ovary	ovary
36	chr2:39104200-39129000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:39107000-39113600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:39108400-39111200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:39108400-39113600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:39108400-39113800	Weak transcription	Brain Anterior Caudate	brain
41	chr2:39108600-39111800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:39108800-39111200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:39108800-39114600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:39109000-39111200	Weak transcription	Liver	Liver
45	chr2:39110200-39186800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:39110400-39115800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:39110400-39120600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:39110600-39112000	Strong transcription	Fetal Stomach	stomach
49	chr2:39111000-39112600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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