Variant report

Variant	rs300049
Chromosome Location	chr5:37084073-37084074
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs13176880	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs150380	0.85[EUR][1000 genomes]
rs151944	0.83[EUR][1000 genomes]
rs158622	0.86[EUR][1000 genomes]
rs158623	0.86[EUR][1000 genomes]
rs158791	0.90[EUR][1000 genomes]
rs158796	0.84[EUR][1000 genomes]
rs158803	0.87[EUR][1000 genomes]
rs159749	0.88[EUR][1000 genomes]
rs159751	0.91[EUR][1000 genomes]
rs159753	0.91[EUR][1000 genomes]
rs159755	0.90[EUR][1000 genomes]
rs159913	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs168662	0.86[EUR][1000 genomes]
rs184182	0.91[EUR][1000 genomes]
rs186173	0.88[EUR][1000 genomes]
rs188541	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs292182	0.85[EUR][1000 genomes]
rs292183	0.89[EUR][1000 genomes]
rs292184	0.87[EUR][1000 genomes]
rs292194	0.90[EUR][1000 genomes]
rs292195	0.85[EUR][1000 genomes]
rs296962	0.87[EUR][1000 genomes]
rs300046	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300051	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs300053	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs300055	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs300058	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs300060	0.93[EUR][1000 genomes]
rs300061	0.90[EUR][1000 genomes]
rs300063	0.90[EUR][1000 genomes]
rs300064	0.89[EUR][1000 genomes]
rs300065	0.90[EUR][1000 genomes]
rs301859	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs301901	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs301917	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3104057	0.88[EUR][1000 genomes]
rs388098	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6875748	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][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	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv964844	chr5:37080836-37107123	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:37058600-37090000	Weak transcription	Right Ventricle	heart
3	chr5:37061200-37096800	Weak transcription	Psoas Muscle	Psoas
4	chr5:37061200-37103400	Weak transcription	Fetal Kidney	kidney
5	chr5:37064200-37105000	Weak transcription	Fetal Brain Male	brain
6	chr5:37064600-37104000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:37064800-37086800	Weak transcription	Pancreas	Pancrea
8	chr5:37064800-37087000	Weak transcription	Colonic Mucosa	Colon
9	chr5:37064800-37093600	Weak transcription	Brain Germinal Matrix	brain
10	chr5:37065000-37084400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:37065000-37086800	Weak transcription	Lung	lung
12	chr5:37065000-37087000	Weak transcription	Esophagus	oesophagus
13	chr5:37065000-37092600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:37065000-37092600	Weak transcription	Small Intestine	intestine
15	chr5:37065000-37097400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:37065000-37099400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:37065000-37107600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:37065200-37090800	Weak transcription	Primary T cells from cord blood	blood
19	chr5:37065200-37103400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:37065600-37085000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:37065600-37086600	Weak transcription	Fetal Intestine Large	intestine
22	chr5:37065600-37089400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:37065600-37102400	Weak transcription	Placenta	Placenta
24	chr5:37065800-37087000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr5:37066000-37086400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:37066200-37085800	Weak transcription	Primary B cells from cord blood	blood
27	chr5:37067000-37087000	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:37067000-37111400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:37072400-37086600	Weak transcription	NHLF	lung
30	chr5:37072600-37097400	Weak transcription	Brain Angular Gyrus	brain
31	chr5:37072600-37103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:37072800-37090200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr5:37072800-37090800	Weak transcription	Brain Anterior Caudate	brain
34	chr5:37073200-37085200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:37073200-37094200	Weak transcription	Brain Substantia Nigra	brain
36	chr5:37073400-37085600	Weak transcription	NH-A	brain
37	chr5:37073400-37103600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:37078800-37086600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:37078800-37086800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:37078800-37086800	Weak transcription	Osteobl	bone
41	chr5:37078800-37097600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:37078800-37105000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:37080000-37086800	Weak transcription	Liver	Liver
44	chr5:37080000-37090200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:37080000-37096200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:37080000-37098600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:37080000-37103800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:37080200-37088400	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:37080200-37112000	Weak transcription	Fetal Heart	heart
50	chr5:37080400-37085000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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