Variant report

Variant	esv3463438
Chromosome Location	chr3:99491122-99495551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186825730	chr3:99491145-99491146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528623579	chr3:99491223-99491224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544512603	chr3:99491229-99491230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72932398	chr3:99491256-99491257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190612739	chr3:99491354-99491355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529518402	chr3:99491374-99491375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35804387	chr3:99491398-99491399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569553658	chr3:99491448-99491449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1038295	chr3:99491497-99491498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs793484	chr3:99491508-99491509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs7430976	chr3:99491532-99491533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559237727	chr3:99491595-99491596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570433047	chr3:99491659-99491660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560415489	chr3:99491671-99491672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78245803	chr3:99491751-99491752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117989831	chr3:99491775-99491776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574253314	chr3:99491857-99491858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376893169	chr3:99491861-99491862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541627446	chr3:99491907-99491908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556949359	chr3:99492016-99492017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541015969	chr3:99492046-99492047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561269779	chr3:99492051-99492052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116537495	chr3:99492052-99492053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13100689	chr3:99492093-99492094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540688126	chr3:99492102-99492103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562164979	chr3:99492164-99492165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529478862	chr3:99492179-99492180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151179372	chr3:99492256-99492257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529055993	chr3:99492298-99492299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533710558	chr3:99492340-99492341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555960662	chr3:99492356-99492357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs793485	chr3:99492383-99492384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs140178608	chr3:99492393-99492394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34649007	chr3:99492425-99492426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149885291	chr3:99492471-99492472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546243251	chr3:99492480-99492481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567837733	chr3:99492529-99492530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535239011	chr3:99492560-99492561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557147760	chr3:99492626-99492627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374187473	chr3:99492655-99492656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371433783	chr3:99492659-99492660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574876902	chr3:99492661-99492662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58805519	chr3:99492678-99492679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202230470	chr3:99492679-99492680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2676323	chr3:99492681-99492682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57465016	chr3:99492682-99492683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543508834	chr3:99492683-99492684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563922577	chr3:99492685-99492686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146430331	chr3:99492712-99492713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575446158	chr3:99492735-99492736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99462400-99495600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:99472400-99493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:99472400-99493000	Weak transcription	NHEK	skin
4	chr3:99472400-99493400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:99482400-99493000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:99484400-99493200	Weak transcription	Adipose Nuclei	Adipose
7	chr3:99484400-99493400	Weak transcription	Aorta	Aorta
8	chr3:99484400-99500400	Weak transcription	HSMMtube	muscle
9	chr3:99485200-99493200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:99485200-99493200	Weak transcription	NH-A	brain
11	chr3:99485200-99493200	Weak transcription	NHLF	lung
12	chr3:99485200-99493400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:99486800-99493000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:99487600-99493000	Weak transcription	NHDF-Ad	bronchial
15	chr3:99488200-99493400	Weak transcription	HUVEC	blood vessel
16	chr3:99488400-99493200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:99488400-99493200	Weak transcription	Osteobl	bone
18	chr3:99489600-99493200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:99490000-99494000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:99490800-99493000	Weak transcription	HSMM	muscle
21	chr3:99491000-99492000	Enhancers	Brain Substantia Nigra	brain
22	chr3:99491000-99492200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:99491200-99491800	Enhancers	Brain Cingulate Gyrus	brain
24	chr3:99491600-99492000	Enhancers	Brain Anterior Caudate	brain
25	chr3:99492000-99517600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:99492200-99494200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:99493000-99493400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:99493000-99493400	Enhancers	NHEK	skin
29	chr3:99493000-99493800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:99493000-99493800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:99493000-99494200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:99493000-99494200	Enhancers	HMEC	breast
33	chr3:99493000-99496800	Enhancers	NHDF-Ad	bronchial
34	chr3:99493000-99497800	Genic enhancers	HSMM	muscle
35	chr3:99493200-99493600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:99493200-99493600	Enhancers	Adipose Nuclei	Adipose
37	chr3:99493200-99493800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:99493200-99494200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:99493200-99494200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:99493200-99494200	Enhancers	NH-A	brain
41	chr3:99493200-99494200	Enhancers	NHLF	lung
42	chr3:99493200-99495000	Genic enhancers	Muscle Satellite Cultured Cells	--
43	chr3:99493200-99499400	Genic enhancers	Osteobl	bone
44	chr3:99493400-99493600	Enhancers	Placenta	Placenta
45	chr3:99493400-99493600	Flanking Active TSS	NHEK	skin
46	chr3:99493400-99494000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:99493400-99494200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:99493400-99494200	Strong transcription	HUVEC	blood vessel
49	chr3:99493400-99494400	Strong transcription	Aorta	Aorta
50	chr3:99493400-99495200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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