Variant report

Variant	esv3440308
Chromosome Location	chr3:98582662-98587060
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	chr3:98586570..98588737-chr3:98593085..98595243,2	K562	blood:

Extended variants
information (count: 227 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:227 , 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	rs541840756	chr3:98582676-98582677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561966377	chr3:98582710-98582711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527566257	chr3:98582770-98582771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185383055	chr3:98582773-98582774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561581603	chr3:98582778-98582779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547415389	chr3:98582785-98582786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149494785	chr3:98582804-98582805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs533164333	chr3:98582814-98582815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs143950294	chr3:98582880-98582881	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs569784436	chr3:98582883-98582884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs370646824	chr3:98582884-98582885	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs190684602	chr3:98582887-98582888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs148620755	chr3:98582900-98582901	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs182856707	chr3:98582934-98582935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs534499567	chr3:98582972-98582973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs144165965	chr3:98582976-98582977	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs188211148	chr3:98582979-98582980	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs147750788	chr3:98583004-98583005	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556207801	chr3:98583011-98583012	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140973017	chr3:98583070-98583071	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144830060	chr3:98583071-98583072	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562104855	chr3:98583078-98583079	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564920254	chr3:98583122-98583123	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201102845	chr3:98583139-98583140	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527730094	chr3:98583143-98583144	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532495661	chr3:98583178-98583179	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539052790	chr3:98583179-98583180	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558768314	chr3:98583207-98583208	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564233120	chr3:98583221-98583222	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201182591	chr3:98583243-98583244	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533126935	chr3:98583244-98583245	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202187146	chr3:98583245-98583246	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374244480	chr3:98583266-98583267	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550022538	chr3:98583267-98583268	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569895115	chr3:98583284-98583285	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528984898	chr3:98583293-98583294	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192301955	chr3:98583300-98583301	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565668788	chr3:98583304-98583305	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534327956	chr3:98583319-98583320	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183726038	chr3:98583321-98583322	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187920928	chr3:98583322-98583323	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539769336	chr3:98583331-98583332	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556320209	chr3:98583351-98583352	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151310273	chr3:98583365-98583366	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535550918	chr3:98583420-98583421	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555582428	chr3:98583424-98583425	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572363959	chr3:98583425-98583426	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140547661	chr3:98583441-98583442	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150437450	chr3:98583442-98583443	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191355936	chr3:98583447-98583448	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	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
Cancer	20164919	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98536200-98594200	Weak transcription	HepG2	liver
2	chr3:98537000-98592800	Weak transcription	K562	blood
3	chr3:98553000-98590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:98567600-98601000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:98575200-98590200	Weak transcription	HSMMtube	muscle
6	chr3:98575400-98583800	Weak transcription	HSMM	muscle
7	chr3:98575400-98603800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:98575600-98583600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:98575800-98583600	Weak transcription	NH-A	brain
10	chr3:98575800-98583600	Weak transcription	Osteobl	bone
11	chr3:98575800-98593200	Weak transcription	HUVEC	blood vessel
12	chr3:98575800-98603200	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:98575800-98603800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:98576000-98589800	Weak transcription	HMEC	breast
15	chr3:98576000-98590400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:98576000-98598600	Weak transcription	Fetal Kidney	kidney
17	chr3:98576600-98583000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:98577200-98583200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr3:98577200-98598800	Weak transcription	Left Ventricle	heart
20	chr3:98578000-98583600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:98578000-98583600	Weak transcription	Dnd41	blood
22	chr3:98578000-98587400	Weak transcription	NHEK	skin
23	chr3:98578000-98588800	Weak transcription	NHLF	lung
24	chr3:98578000-98590400	Weak transcription	Adipose Nuclei	Adipose
25	chr3:98578000-98601000	Weak transcription	Lung	lung
26	chr3:98578200-98586400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:98578200-98590400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:98578400-98586200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:98578800-98583600	Weak transcription	A549	lung
30	chr3:98578800-98584000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:98578800-98589200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:98579000-98583000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:98579000-98583600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:98579000-98583600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:98579200-98583000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:98579200-98583600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:98579200-98584000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:98581800-98584000	Weak transcription	NHDF-Ad	bronchial
39	chr3:98582800-98584400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:98583000-98584400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:98583000-98584400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:98583000-98584600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:98583200-98584400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr3:98583400-98611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr3:98583600-98583800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:98583600-98584200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:98583600-98584400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:98583600-98584400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:98583600-98584400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:98583600-98584400	ZNF genes & repeats	Dnd41	blood

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