Variant report

Variant	rs2229520
Chromosome Location	chr3:81586149-81586150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17019053	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17019066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17019195	1.00[AMR][1000 genomes]
rs17019216	1.00[AMR][1000 genomes]
rs6764071	1.00[AMR][1000 genomes]
rs6767507	1.00[AMR][1000 genomes]
rs6771364	1.00[AMR][1000 genomes]
rs6809927	1.00[AMR][1000 genomes]
rs72902449	1.00[AMR][1000 genomes]
rs72902464	1.00[AMR][1000 genomes]
rs72902498	1.00[AMR][1000 genomes]
rs7643889	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934018	chr3:81413060-81655338	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv933756	chr3:81413060-81754738	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1003217	chr3:81435044-81752521	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv933259	chr3:81523854-81730617	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv999587	chr3:81534364-81707800	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv536603	chr3:81534364-81707800	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81572000-81586400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr3:81577000-81586200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:81577400-81588400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr3:81577600-81586200	Strong transcription	Adipose Nuclei	Adipose
5	chr3:81577600-81586800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:81577600-81589800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:81579200-81586200	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:81580600-81589600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:81581000-81587600	Weak transcription	HepG2	liver
10	chr3:81581200-81588600	Strong transcription	Liver	Liver
11	chr3:81581400-81588000	Weak transcription	Esophagus	oesophagus
12	chr3:81581400-81593200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:81581600-81628200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:81582800-81586200	Weak transcription	HMEC	breast
15	chr3:81582800-81586400	Weak transcription	Spleen	Spleen
16	chr3:81582800-81591000	Strong transcription	Dnd41	blood
17	chr3:81582800-81592800	Weak transcription	Fetal Lung	lung
18	chr3:81582800-81597000	Weak transcription	Primary B cells from cord blood	blood
19	chr3:81582800-81613200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:81583000-81598200	Weak transcription	NH-A	brain
21	chr3:81583200-81596200	Weak transcription	Right Ventricle	heart
22	chr3:81583400-81591800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:81583400-81603800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:81583400-81613200	Weak transcription	Lung	lung
25	chr3:81583600-81586200	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:81583600-81586600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:81583600-81596200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:81583600-81613200	Weak transcription	Primary T cells from cord blood	blood
29	chr3:81583600-81625600	Weak transcription	HUVEC	blood vessel
30	chr3:81583800-81587600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr3:81583800-81587800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:81583800-81599400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:81583800-81603400	Weak transcription	NHLF	lung
34	chr3:81583800-81608000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:81583800-81608000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:81584200-81587600	Weak transcription	Pancreas	Pancrea
37	chr3:81584200-81598600	Weak transcription	Osteobl	bone
38	chr3:81584200-81604000	Weak transcription	Aorta	Aorta
39	chr3:81584200-81636600	Weak transcription	Placenta	Placenta
40	chr3:81584400-81596400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr3:81584400-81603400	Weak transcription	HSMMtube	muscle
42	chr3:81584600-81586200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr3:81584600-81587000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:81584600-81596400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:81584600-81598000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr3:81584600-81612200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:81584600-81613000	Weak transcription	Ovary	ovary
48	chr3:81584800-81596200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:81584800-81610400	Weak transcription	HSMM	muscle
50	chr3:81585000-81586200	Enhancers	HUES6 Cell Line	embryonic stem cell

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