Variant report

Variant	rs72888969
Chromosome Location	chr2:63057563-63057564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13383678	1.00[EUR][1000 genomes]
rs13402830	1.00[EUR][1000 genomes]
rs13432479	1.00[EUR][1000 genomes]
rs55650545	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56738177	0.83[AMR][1000 genomes]
rs57002163	1.00[EUR][1000 genomes]
rs57127049	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58171425	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59831223	1.00[EUR][1000 genomes]
rs61378194	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727408	1.00[EUR][1000 genomes]
rs6728740	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6732313	1.00[EUR][1000 genomes]
rs6732451	1.00[EUR][1000 genomes]
rs6754557	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890504	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72890505	1.00[EUR][1000 genomes]
rs72890506	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7598412	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599037	0.92[AFR][1000 genomes];1.00[EUR][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	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63020600-63082000	Weak transcription	Pancreas	Pancrea
2	chr2:63028600-63063400	Weak transcription	Brain Substantia Nigra	brain
3	chr2:63031000-63083000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:63031400-63082000	Weak transcription	Thymus	Thymus
5	chr2:63033800-63060600	Weak transcription	Aorta	Aorta
6	chr2:63040600-63082000	Weak transcription	Lung	lung
7	chr2:63041600-63060400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:63041800-63060400	Weak transcription	K562	blood
9	chr2:63044000-63060200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:63045400-63060200	Weak transcription	Psoas Muscle	Psoas
11	chr2:63045600-63072400	Weak transcription	NHEK	skin
12	chr2:63046400-63101800	Weak transcription	Brain Angular Gyrus	brain
13	chr2:63048800-63063400	Weak transcription	Right Ventricle	heart
14	chr2:63049600-63065800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:63050200-63060400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:63050600-63091800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:63050800-63060400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:63051200-63060400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:63052000-63099600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:63052200-63057600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:63052200-63060000	Weak transcription	Small Intestine	intestine
22	chr2:63052200-63064400	Weak transcription	Placenta	Placenta
23	chr2:63052200-63098200	Weak transcription	Hela-S3	cervix
24	chr2:63052400-63058200	Weak transcription	Fetal Kidney	kidney
25	chr2:63052400-63062600	Weak transcription	Fetal Thymus	thymus
26	chr2:63052400-63062600	Strong transcription	HepG2	liver
27	chr2:63052600-63060400	Weak transcription	Fetal Brain Male	brain
28	chr2:63053200-63060200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:63053200-63060400	Strong transcription	Liver	Liver
30	chr2:63053200-63063000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:63053400-63060400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:63053400-63060600	Strong transcription	NHDF-Ad	bronchial
33	chr2:63053600-63058800	Strong transcription	A549	lung
34	chr2:63053600-63059800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:63054000-63060000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:63054200-63058400	Weak transcription	HSMM	muscle
37	chr2:63054200-63059800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:63054200-63059800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:63054400-63058000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:63054400-63059400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:63054400-63059800	Weak transcription	GM12878-XiMat	blood
42	chr2:63054400-63059800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:63054400-63060000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:63054400-63060200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:63054400-63060400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:63054400-63062200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:63054400-63063000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:63054600-63057600	Weak transcription	Primary T cells from cord blood	blood
49	chr2:63054600-63058200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:63054600-63058200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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