Variant report

Variant	rs2134913
Chromosome Location	chr3:143565753-143565754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10433437	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12497227	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1394403	0.85[EUR][1000 genomes]
rs16854503	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1900643	0.82[AMR][1000 genomes]
rs1989180	0.92[AMR][1000 genomes]
rs2361204	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4839670	0.92[AMR][1000 genomes]
rs6764661	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6776336	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7651412	0.85[AMR][1000 genomes]
rs9827103	0.85[AMR][1000 genomes]
rs9832471	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9847107	0.80[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009935	chr3:143497700-143610852	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143551400-143565800	Weak transcription	Adipose Nuclei	Adipose
2	chr3:143554200-143565800	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:143558400-143566600	Weak transcription	Esophagus	oesophagus
4	chr3:143558600-143566000	Weak transcription	Ovary	ovary
5	chr3:143559800-143565800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:143559800-143566400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:143559800-143566400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:143560200-143565800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:143560200-143566600	Weak transcription	Small Intestine	intestine
10	chr3:143561400-143565800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:143562000-143565800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:143562200-143566600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:143562400-143565800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:143563200-143567600	Active TSS	GM12878-XiMat	blood
15	chr3:143563600-143565800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr3:143563600-143565800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr3:143563800-143565800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr3:143563800-143565800	Enhancers	Brain Cingulate Gyrus	brain
19	chr3:143563800-143565800	Enhancers	Brain Substantia Nigra	brain
20	chr3:143563800-143566400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:143564000-143566000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:143564200-143565800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:143564200-143565800	Enhancers	Primary B cells from cord blood	blood
24	chr3:143564200-143565800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:143564200-143566000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr3:143564400-143565800	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:143564400-143566200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr3:143564400-143566400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr3:143564600-143565800	Weak transcription	Fetal Lung	lung
30	chr3:143564600-143565800	Weak transcription	Fetal Stomach	stomach
31	chr3:143564800-143565800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr3:143564800-143565800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:143565000-143565800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:143565000-143565800	Enhancers	Primary T cells from cord blood	blood
35	chr3:143565000-143566000	Enhancers	Aorta	Aorta
36	chr3:143565000-143566600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr3:143565200-143565800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:143565200-143565800	Enhancers	Fetal Thymus	thymus
39	chr3:143565200-143566000	Enhancers	Primary B cells from peripheral blood	blood
40	chr3:143565200-143566200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:143565200-143566200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:143565200-143566400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr3:143565200-143567400	Active TSS	Placenta	Placenta
44	chr3:143565200-143567400	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr3:143565400-143565800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr3:143565400-143565800	Enhancers	Brain Anterior Caudate	brain
47	chr3:143565400-143567600	Active TSS	Brain Hippocampus Middle	brain
48	chr3:143565400-143567600	Active TSS	Stomach Smooth Muscle	stomach
49	chr3:143565400-143567600	Active TSS	NHDF-Ad	bronchial
50	chr3:143565600-143565800	Enhancers	HUES6 Cell Line	embryonic stem cell

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