Variant report

Variant	rs72936047
Chromosome Location	chr2:39947369-39947370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39946231..39948617-chr2:39954711..39957133,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs17024157	1.00[AMR][1000 genomes]
rs17024166	1.00[AMR][1000 genomes]
rs17024174	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024175	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024189	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024194	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024197	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17024202	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17024206	1.00[AMR][1000 genomes]
rs17024218	1.00[ASN][1000 genomes]
rs17024232	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17024260	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024275	0.95[AFR][1000 genomes]
rs17024278	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024282	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024292	1.00[AMR][1000 genomes]
rs17038962	1.00[AMR][1000 genomes]
rs2540243	1.00[ASN][1000 genomes]
rs2540245	1.00[ASN][1000 genomes]
rs2716698	1.00[ASN][1000 genomes]
rs2716700	1.00[ASN][1000 genomes]
rs2716702	1.00[ASN][1000 genomes]
rs2716709	1.00[ASN][1000 genomes]
rs2716733	1.00[ASN][1000 genomes]
rs56104365	1.00[ASN][1000 genomes]
rs57028848	1.00[AMR][1000 genomes]
rs57317087	1.00[AMR][1000 genomes]
rs57564028	1.00[AMR][1000 genomes]
rs58054718	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58462460	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60131290	1.00[AMR][1000 genomes]
rs6738748	1.00[ASN][1000 genomes]
rs72934285	1.00[ASN][1000 genomes]
rs72934288	1.00[AMR][1000 genomes]
rs72934295	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72934302	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936018	1.00[AMR][1000 genomes]
rs72936030	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72936031	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72936037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72936041	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72936044	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72936048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72936053	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72936058	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72936068	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936072	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936073	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936076	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936078	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936079	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936085	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936089	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936091	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936095	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936096	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936102	1.00[AMR][1000 genomes]
rs72938105	1.00[AMR][1000 genomes]
rs72938110	1.00[AMR][1000 genomes]
rs72938112	1.00[AMR][1000 genomes]
rs72938118	1.00[AMR][1000 genomes]
rs72938121	1.00[AMR][1000 genomes]
rs72938124	1.00[AMR][1000 genomes]
rs72938134	1.00[AMR][1000 genomes]
rs72938145	1.00[AMR][1000 genomes]
rs73924940	1.00[ASN][1000 genomes]
rs73927043	1.00[ASN][1000 genomes]
rs990404	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs990405	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39925000-39957600	Weak transcription	Fetal Stomach	stomach
2	chr2:39925200-39950000	Weak transcription	Left Ventricle	heart
3	chr2:39931400-39957600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:39936600-39950600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:39937400-39948400	Weak transcription	Fetal Heart	heart
6	chr2:39938000-39957600	Weak transcription	Fetal Brain Female	brain
7	chr2:39938200-39950600	Weak transcription	HSMMtube	muscle
8	chr2:39938400-39950000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:39938800-39947800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:39940800-39950800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:39942000-39963000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:39942400-39947600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:39943200-39956200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:39944400-39976600	Weak transcription	Fetal Brain Male	brain
15	chr2:39945200-39954400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:39946400-39948000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:39946400-39950600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:39946600-39947600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:39946600-39949800	Weak transcription	Psoas Muscle	Psoas
20	chr2:39946600-39951200	Weak transcription	Aorta	Aorta
21	chr2:39946800-39950000	Weak transcription	NH-A	brain
22	chr2:39946800-39950600	Weak transcription	Osteobl	bone
23	chr2:39946800-39959600	Weak transcription	Brain Germinal Matrix	brain
24	chr2:39947000-39948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:39947200-39947600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:39947200-39948200	Weak transcription	Brain Anterior Caudate	brain

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