Variant report

Variant	esv1946491
Chromosome Location	chr3:69416537-69416929
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	chr3:69416233..69418620-chr3:69433830..69435946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114541	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 86 )

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	rs182107648	chr3:69416569-69416570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187849479	chr3:69416574-69416575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557406423	chr3:69416579-69416580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577324201	chr3:69416597-69416598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546041931	chr3:69416610-69416611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs71302187	chr3:69416641-69416642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs9861534	chr3:69416642-69416643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553929765	chr3:69416657-69416658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs199672739	chr3:69416697-69416698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147683005	chr3:69416699-69416700	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201242251	chr3:69416700-69416701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199738375	chr3:69416702-69416703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576360835	chr3:69416716-69416717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572319299	chr3:69416731-69416732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs61694084	chr3:69416745-69416746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs193140464	chr3:69416749-69416750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs17005712	chr3:69416837-69416838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183993372	chr3:69416847-69416848	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542674911	chr3:69416929-69416930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69402200-69419000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:69410200-69417400	Weak transcription	Fetal Lung	lung
3	chr3:69413600-69417200	Weak transcription	Aorta	Aorta
4	chr3:69413600-69417200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:69413600-69417200	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:69413600-69417200	Weak transcription	Fetal Thymus	thymus
7	chr3:69413600-69417400	Weak transcription	Brain Anterior Caudate	brain
8	chr3:69413600-69417400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:69413600-69417400	Weak transcription	Brain Substantia Nigra	brain
10	chr3:69413600-69417600	Weak transcription	Esophagus	oesophagus
11	chr3:69413600-69418000	Weak transcription	HSMMtube	muscle
12	chr3:69413600-69419000	Weak transcription	NHDF-Ad	bronchial
13	chr3:69413800-69417000	Weak transcription	HUVEC	blood vessel
14	chr3:69413800-69417400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr3:69413800-69417600	Weak transcription	Placenta	Placenta
16	chr3:69413800-69417600	Weak transcription	Right Atrium	heart
17	chr3:69413800-69419000	Weak transcription	Brain Angular Gyrus	brain
18	chr3:69413800-69419400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:69414000-69417200	Weak transcription	Thymus	Thymus
20	chr3:69414000-69417400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:69414000-69417400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:69414000-69418400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:69414000-69419000	Weak transcription	Osteobl	bone
24	chr3:69414200-69418000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:69414600-69416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:69414600-69417000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:69414600-69417400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:69414800-69416800	Weak transcription	GM12878-XiMat	blood
29	chr3:69414800-69417200	Weak transcription	HMEC	breast
30	chr3:69414800-69417200	Weak transcription	NHEK	skin
31	chr3:69415000-69417200	Weak transcription	HSMM	muscle
32	chr3:69415000-69417400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:69415000-69417400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:69415000-69418800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:69415200-69417200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:69415400-69417200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:69415400-69417400	Weak transcription	Lung	lung
38	chr3:69415800-69416600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:69415800-69417200	Enhancers	Dnd41	blood
40	chr3:69416000-69419000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:69416000-69419200	Weak transcription	Fetal Brain Male	brain
42	chr3:69416400-69417000	Enhancers	Primary hematopoietic stem cells	blood
43	chr3:69416600-69417400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:69416600-69418400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr3:69416600-69420400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:69416800-69417200	Enhancers	GM12878-XiMat	blood
47	chr3:69416800-69417400	Enhancers	Primary T cells from cord blood	blood
48	chr3:69416800-69417400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:69416800-69419800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr3:69416800-69420400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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