Variant report

Variant	esv3464312
Chromosome Location	chr3:105075340-105078277
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	chr3:105072055..105074262-chr3:105075883..105078714,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75635382	chr3:105075379-105075380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557875351	chr3:105075405-105075406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16851091	chr3:105075454-105075455	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535213009	chr3:105075484-105075485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541879545	chr3:105075511-105075512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553618600	chr3:105075546-105075547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183394563	chr3:105075558-105075559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535946423	chr3:105075574-105075575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537712714	chr3:105075579-105075580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186602216	chr3:105075606-105075607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563542048	chr3:105075631-105075632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530980740	chr3:105075653-105075654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369213308	chr3:105075733-105075734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575585462	chr3:105075801-105075802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545925357	chr3:105075846-105075847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76160144	chr3:105075898-105075899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191501859	chr3:105075925-105075926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540006977	chr3:105075959-105075960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184731705	chr3:105075960-105075961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528911402	chr3:105076049-105076050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550662298	chr3:105076123-105076124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562488488	chr3:105076153-105076154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532917890	chr3:105076184-105076185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73177454	chr3:105076236-105076237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78046459	chr3:105076292-105076293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564659362	chr3:105076294-105076295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187915228	chr3:105076301-105076302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373903705	chr3:105076361-105076362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547169009	chr3:105076418-105076419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568678955	chr3:105076432-105076433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78678555	chr3:105076438-105076439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377638992	chr3:105076439-105076440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569281733	chr3:105076460-105076461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539805601	chr3:105076484-105076485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1370889	chr3:105076522-105076523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144578276	chr3:105076576-105076577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192967969	chr3:105076579-105076580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540141721	chr3:105076594-105076595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528758791	chr3:105076643-105076644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555104438	chr3:105076658-105076659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546323889	chr3:105076663-105076664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78442321	chr3:105076680-105076681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544103311	chr3:105076697-105076698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541753994	chr3:105076725-105076726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371101795	chr3:105076751-105076752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374153066	chr3:105076752-105076753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532898453	chr3:105076791-105076792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115011573	chr3:105076829-105076830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376868105	chr3:105076899-105076900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528753243	chr3:105076900-105076901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105071000-105078200	Weak transcription	A549	lung
2	chr3:105073000-105078600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:105073000-105081200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:105073200-105076000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:105073400-105075400	Weak transcription	Brain Substantia Nigra	brain
6	chr3:105073400-105076200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr3:105073400-105084400	Weak transcription	Aorta	Aorta
8	chr3:105073600-105075400	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:105073600-105075600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:105073600-105075600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:105073600-105075800	Weak transcription	Brain Anterior Caudate	brain
12	chr3:105073600-105076000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:105073600-105076200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:105073600-105077600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:105074000-105075400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:105074400-105076200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:105074400-105083600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:105074600-105077600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:105074600-105077800	Weak transcription	HSMM	muscle
20	chr3:105074600-105078200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:105074600-105078200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:105074600-105078200	Weak transcription	HMEC	breast
23	chr3:105074600-105078200	Weak transcription	HSMMtube	muscle
24	chr3:105074600-105078200	Weak transcription	NHDF-Ad	bronchial
25	chr3:105074800-105075800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:105074800-105077800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:105074800-105078000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:105074800-105078000	Weak transcription	NHEK	skin
29	chr3:105074800-105079800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:105074800-105083000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:105075000-105077400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:105075000-105077400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:105075000-105077800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:105075000-105077800	Weak transcription	NH-A	brain
35	chr3:105075000-105077800	Weak transcription	Osteobl	bone
36	chr3:105075000-105078000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:105075000-105078200	Weak transcription	NHLF	lung
38	chr3:105075000-105078400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:105075200-105075400	Enhancers	Fetal Kidney	kidney
40	chr3:105075200-105076000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr3:105075200-105077000	Weak transcription	HUVEC	blood vessel
42	chr3:105075200-105078000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:105075400-105075600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:105075400-105075800	Enhancers	Brain Substantia Nigra	brain
45	chr3:105075400-105076200	Enhancers	Brain Hippocampus Middle	brain
46	chr3:105075600-105075800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:105075600-105076000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:105075600-105076400	Enhancers	Brain Cingulate Gyrus	brain
49	chr3:105075800-105076000	Enhancers	Brain Anterior Caudate	brain
50	chr3:105075800-105076200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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