Variant report

Variant	rs72890505
Chromosome Location	chr2:63151173-63151174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10176805	1.00[EUR][1000 genomes]
rs10180262	1.00[EUR][1000 genomes]
rs10187907	1.00[EUR][1000 genomes]
rs10199938	1.00[EUR][1000 genomes]
rs10203623	1.00[EUR][1000 genomes]
rs10203845	1.00[EUR][1000 genomes]
rs11125951	1.00[EUR][1000 genomes]
rs13402830	1.00[EUR][1000 genomes]
rs13403570	1.00[EUR][1000 genomes]
rs13408152	1.00[EUR][1000 genomes]
rs13408991	1.00[EUR][1000 genomes]
rs13419820	1.00[EUR][1000 genomes]
rs13423930	1.00[EUR][1000 genomes]
rs13424984	1.00[EUR][1000 genomes]
rs13426053	1.00[EUR][1000 genomes]
rs13432479	1.00[EUR][1000 genomes]
rs55650545	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56738177	0.85[AMR][1000 genomes]
rs57002163	1.00[EUR][1000 genomes]
rs57127049	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57320842	1.00[EUR][1000 genomes]
rs58171425	1.00[EUR][1000 genomes]
rs59234039	1.00[EUR][1000 genomes]
rs59831223	1.00[EUR][1000 genomes]
rs61378194	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727408	1.00[EUR][1000 genomes]
rs6728740	1.00[EUR][1000 genomes]
rs6732313	1.00[EUR][1000 genomes]
rs6732451	1.00[EUR][1000 genomes]
rs6754557	1.00[EUR][1000 genomes]
rs72888969	1.00[EUR][1000 genomes]
rs72890504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7598412	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63122800-63166600	Weak transcription	HMEC	breast
2	chr2:63142400-63190800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:63145000-63155400	Weak transcription	HUVEC	blood vessel
4	chr2:63145600-63152200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:63147000-63151200	Strong transcription	Liver	Liver
6	chr2:63147200-63152000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:63147800-63151400	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr2:63147800-63151400	ZNF genes & repeats	Fetal Stomach	stomach
9	chr2:63147800-63154200	Weak transcription	K562	blood
10	chr2:63148000-63151600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:63148400-63151200	ZNF genes & repeats	Fetal Brain Female	brain
12	chr2:63148600-63151200	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:63148600-63151400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr2:63148800-63151400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:63148800-63151400	Strong transcription	A549	lung
16	chr2:63148800-63152000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:63149000-63151400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:63149000-63151400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:63149200-63151200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:63149400-63151200	Strong transcription	Ovary	ovary
21	chr2:63149400-63151200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:63149400-63151400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr2:63149400-63151400	ZNF genes & repeats	Brain Germinal Matrix	brain
24	chr2:63149400-63151400	ZNF genes & repeats	Dnd41	blood
25	chr2:63149400-63152200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr2:63149400-63152400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:63149600-63151400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:63149600-63151400	ZNF genes & repeats	Fetal Lung	lung
29	chr2:63149600-63151400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
30	chr2:63149600-63151400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr2:63149800-63151200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:63149800-63151200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:63149800-63151200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr2:63149800-63151200	Strong transcription	NHEK	skin
35	chr2:63149800-63151400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:63149800-63151400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:63149800-63151400	ZNF genes & repeats	Aorta	Aorta
38	chr2:63149800-63151400	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr2:63149800-63151400	Strong transcription	Rectal Smooth Muscle	rectum
40	chr2:63149800-63152200	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr2:63150000-63151200	ZNF genes & repeats	NHLF	lung
42	chr2:63150000-63151400	ZNF genes & repeats	Pancreas	Pancrea
43	chr2:63150200-63151200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:63150200-63151400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:63150200-63151400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:63150200-63151400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:63150200-63151400	ZNF genes & repeats	Fetal Brain Male	brain
48	chr2:63150200-63151600	Weak transcription	Brain Anterior Caudate	brain
49	chr2:63150400-63151200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:63150400-63152600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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