Variant report

Variant	rs72890504
Chromosome Location	chr2:63149782-63149783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10176805	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	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56738177	0.85[AMR][1000 genomes]
rs57002163	1.00[EUR][1000 genomes]
rs57127049	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57320842	1.00[EUR][1000 genomes]
rs58171425	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59234039	1.00[EUR][1000 genomes]
rs59831223	1.00[EUR][1000 genomes]
rs61378194	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727408	1.00[EUR][1000 genomes]
rs6728740	0.94[AFR][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[EUR][1000 genomes]
rs72888969	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72890505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7598412	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599037	1.00[AFR][1000 genomes];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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63102600-63149800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:63102800-63150200	Weak transcription	Esophagus	oesophagus
3	chr2:63107000-63150200	Weak transcription	HSMM	muscle
4	chr2:63122800-63166600	Weak transcription	HMEC	breast
5	chr2:63123800-63149800	Weak transcription	NHEK	skin
6	chr2:63131400-63149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:63139200-63149800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:63142400-63190800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:63144800-63149800	Weak transcription	Fetal Heart	heart
10	chr2:63145000-63149800	Weak transcription	Osteobl	bone
11	chr2:63145000-63155400	Weak transcription	HUVEC	blood vessel
12	chr2:63145200-63150200	Weak transcription	Lung	lung
13	chr2:63145600-63152200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:63146400-63150000	Weak transcription	Pancreas	Pancrea
15	chr2:63147000-63151200	Strong transcription	Liver	Liver
16	chr2:63147200-63151000	Weak transcription	NH-A	brain
17	chr2:63147200-63152000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:63147400-63149800	Weak transcription	Primary T cells from cord blood	blood
19	chr2:63147400-63150000	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:63147600-63149800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:63147800-63149800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:63147800-63151400	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr2:63147800-63151400	ZNF genes & repeats	Fetal Stomach	stomach
24	chr2:63147800-63154200	Weak transcription	K562	blood
25	chr2:63148000-63149800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:63148000-63150600	Strong transcription	HepG2	liver
27	chr2:63148000-63151600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:63148200-63149800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:63148400-63149800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:63148400-63149800	Weak transcription	Brain Anterior Caudate	brain
31	chr2:63148400-63150000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:63148400-63150000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:63148400-63150000	Weak transcription	Thymus	Thymus
34	chr2:63148400-63150800	Strong transcription	Adipose Nuclei	Adipose
35	chr2:63148400-63151000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:63148400-63151200	ZNF genes & repeats	Fetal Brain Female	brain
37	chr2:63148600-63150200	Weak transcription	Gastric	stomach
38	chr2:63148600-63150400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:63148600-63150800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:63148600-63151200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:63148600-63151400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr2:63148800-63149800	Weak transcription	Spleen	Spleen
43	chr2:63148800-63150200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:63148800-63150600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:63148800-63150600	Strong transcription	Fetal Intestine Large	intestine
46	chr2:63148800-63151400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:63148800-63151400	Strong transcription	A549	lung
48	chr2:63148800-63152000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:63149000-63149800	Strong transcription	Fetal Muscle Leg	muscle
50	chr2:63149000-63150600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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