Variant report

Variant	rs72927143
Chromosome Location	chr2:39599648-39599649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12105018	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17023400	0.83[AMR][1000 genomes]
rs57107827	0.92[AMR][1000 genomes]
rs57164521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58019817	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61344670	0.81[AFR][1000 genomes]
rs6706951	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6721740	0.85[AFR][1000 genomes]
rs6722096	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6725496	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6725704	0.92[AMR][1000 genomes]
rs6732290	0.82[AFR][1000 genomes]
rs6759388	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72914206	0.92[AMR][1000 genomes]
rs72925249	0.87[AFR][1000 genomes]
rs72925250	0.87[AFR][1000 genomes]
rs72925252	0.87[AFR][1000 genomes]
rs72925278	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72925283	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72925290	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927107	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927108	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927110	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927119	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927123	0.85[AMR][1000 genomes]
rs72929164	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72929184	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931129	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931131	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931135	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931145	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931150	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931159	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931161	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931172	0.92[AMR][1000 genomes]
rs7566368	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7581123	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7585411	0.83[AMR][1000 genomes]
rs7589593	0.84[AFR][1000 genomes]
rs7592925	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7609233	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv833847	chr2:39410762-39604640	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv533445	chr2:39412970-39605266	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv873887	chr2:39468676-39601889	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39584400-39604600	Weak transcription	Right Ventricle	heart
2	chr2:39587000-39608800	Weak transcription	Pancreas	Pancrea
3	chr2:39587200-39604400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:39587800-39604800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:39588000-39607800	Weak transcription	Ovary	ovary
6	chr2:39588000-39608800	Weak transcription	Lung	lung
7	chr2:39588000-39609000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
9	chr2:39588200-39599800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:39588200-39602800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:39588200-39603000	Weak transcription	Adipose Nuclei	Adipose
12	chr2:39588400-39603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:39590000-39604800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:39590200-39599800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:39590200-39602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:39590200-39602800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:39590200-39604800	Weak transcription	HSMMtube	muscle
18	chr2:39590400-39599800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:39590400-39600400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:39590400-39602400	Weak transcription	Liver	Liver
21	chr2:39590600-39601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:39590600-39601200	Weak transcription	Fetal Stomach	stomach
23	chr2:39590600-39602200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:39591000-39602000	Weak transcription	Fetal Thymus	thymus
25	chr2:39591800-39602200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:39591800-39604600	Weak transcription	NH-A	brain
27	chr2:39591800-39621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:39592000-39606800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:39592200-39599800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:39592400-39599800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:39592400-39600200	Weak transcription	A549	lung
32	chr2:39592400-39604600	Weak transcription	Fetal Heart	heart
33	chr2:39592600-39607000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:39592800-39617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:39593400-39603200	Weak transcription	K562	blood
36	chr2:39593800-39602800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:39594000-39600800	Weak transcription	Fetal Intestine Small	intestine
38	chr2:39594600-39608800	Weak transcription	Left Ventricle	heart
39	chr2:39595200-39599800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:39595800-39604600	Weak transcription	Psoas Muscle	Psoas
41	chr2:39595800-39606800	Weak transcription	HUVEC	blood vessel
42	chr2:39595800-39607200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:39596200-39602400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:39596200-39605000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:39596400-39604600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:39596400-39605000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:39596400-39606800	Weak transcription	Fetal Brain Male	brain
48	chr2:39596600-39599800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:39596600-39602400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:39596800-39600400	Weak transcription	Fetal Kidney	kidney

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