Variant report

Variant	rs2901144
Chromosome Location	chr2:72505243-72505244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1003672	0.92[EUR][1000 genomes]
rs10168145	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192800	0.83[ASN][1000 genomes]
rs10196589	0.88[EUR][1000 genomes]
rs10205108	0.91[EUR][1000 genomes]
rs10207299	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221769	0.90[EUR][1000 genomes]
rs11126363	0.87[EUR][1000 genomes]
rs1159763	0.88[EUR][1000 genomes]
rs1159764	0.88[EUR][1000 genomes]
rs1159765	0.87[EUR][1000 genomes]
rs1159766	0.88[EUR][1000 genomes]
rs11690734	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694921	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902025	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418637	0.88[EUR][1000 genomes]
rs13432350	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109961	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192014	0.83[ASN][1000 genomes]
rs2192015	0.83[ASN][1000 genomes]
rs2420442	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852287	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4852288	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546752	0.92[EUR][1000 genomes]
rs6546756	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709109	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709114	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6711265	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6722637	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729863	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742264	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753073	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758462	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719118	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559131	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583271	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309463	0.91[EUR][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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:72489200-72508200	Weak transcription	Aorta	Aorta
2	chr2:72497400-72505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:72499400-72507800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:72499400-72507800	Weak transcription	Psoas Muscle	Psoas
5	chr2:72499600-72510400	Weak transcription	Right Ventricle	heart
6	chr2:72501000-72505800	Weak transcription	Pancreas	Pancrea
7	chr2:72502200-72505400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:72502800-72505800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:72502800-72507800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:72502800-72507800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:72503000-72505600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:72503000-72506200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:72503200-72505600	Enhancers	Osteobl	bone
14	chr2:72503400-72505400	Weak transcription	Small Intestine	intestine
15	chr2:72503800-72505600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:72503800-72505600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:72504000-72505600	Enhancers	NHDF-Ad	bronchial
18	chr2:72504200-72508000	Weak transcription	Ovary	ovary
19	chr2:72504800-72513200	Weak transcription	Left Ventricle	heart
20	chr2:72505000-72505800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:72505200-72505600	Enhancers	Hela-S3	cervix
22	chr2:72505200-72505600	Enhancers	NHEK	skin
23	chr2:72505200-72505800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:72505200-72505800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:72505200-72505800	Enhancers	A549	lung
26	chr2:72505200-72506400	Enhancers	Fetal Heart	heart

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