Variant report

Variant	rs72993350
Chromosome Location	chr3:143530571-143530572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1868182	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6784547	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993355	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993357	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3418674	chr3:143457005-143558357	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	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
4	nsv1001076	chr3:143513526-143547076	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv536747	chr3:143513526-143547076	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143513600-143533600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr3:143514200-143544200	Weak transcription	Primary T cells from cord blood	blood
3	chr3:143524200-143533200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:143525800-143530800	Enhancers	Fetal Stomach	stomach
5	chr3:143526000-143530800	Weak transcription	Small Intestine	intestine
6	chr3:143526400-143531200	Weak transcription	Spleen	Spleen
7	chr3:143526800-143531000	Enhancers	NHDF-Ad	bronchial
8	chr3:143526800-143533000	Weak transcription	Right Atrium	heart
9	chr3:143527400-143531200	Enhancers	Fetal Lung	lung
10	chr3:143528200-143531400	Enhancers	Brain Hippocampus Middle	brain
11	chr3:143528400-143531000	Enhancers	Adipose Nuclei	Adipose
12	chr3:143528400-143533600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:143528600-143530600	Enhancers	Ovary	ovary
14	chr3:143528600-143531200	Enhancers	Brain Substantia Nigra	brain
15	chr3:143528600-143531800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:143528800-143530600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:143528800-143533400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:143529000-143531400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:143529200-143532000	Enhancers	Primary B cells from cord blood	blood
20	chr3:143529400-143531400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:143529400-143533000	Weak transcription	NHLF	lung
22	chr3:143529600-143532000	Enhancers	Primary B cells from peripheral blood	blood
23	chr3:143529600-143540600	Weak transcription	Brain Angular Gyrus	brain
24	chr3:143529600-143543800	Weak transcription	Stomach Mucosa	stomach
25	chr3:143529800-143530600	Enhancers	Fetal Muscle Trunk	muscle
26	chr3:143529800-143530600	Enhancers	Fetal Muscle Leg	muscle
27	chr3:143529800-143530600	Enhancers	Placenta	Placenta
28	chr3:143529800-143530600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr3:143530000-143530800	Weak transcription	Brain Anterior Caudate	brain
30	chr3:143530000-143533600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:143530000-143538800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:143530200-143530600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:143530200-143532000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:143530400-143530800	Enhancers	GM12878-XiMat	blood
35	chr3:143530400-143533400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr3:143530400-143533400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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