Variant report

Variant	rs72803586
Chromosome Location	chr2:55830696-55830697
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10496048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17278009	0.81[AMR][1000 genomes]
rs17792577	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4643582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60356354	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72801530	0.87[AMR][1000 genomes]
rs72801531	0.87[AMR][1000 genomes]
rs72801560	0.81[AMR][1000 genomes]
rs72801562	0.81[AMR][1000 genomes]
rs72801568	0.81[AMR][1000 genomes]
rs72801571	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72801572	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72801575	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72801577	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72801580	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72801581	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72801584	0.93[AMR][1000 genomes]
rs72801592	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72801594	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72801601	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72803508	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72803511	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72803513	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72803515	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72803520	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72803525	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72803527	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72803529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72803530	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72803534	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803536	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72803541	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803543	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803544	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803546	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803553	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803566	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72803573	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803588	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72803591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72803595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72805406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72805414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55752600-55831400	Weak transcription	Stomach Mucosa	stomach
2	chr2:55779600-55831400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:55789800-55843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:55790200-55842400	Weak transcription	Fetal Brain Male	brain
5	chr2:55790400-55836200	Weak transcription	Fetal Heart	heart
6	chr2:55796800-55842600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:55803000-55838800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:55818600-55834400	Weak transcription	Small Intestine	intestine
9	chr2:55818600-55835200	Weak transcription	Psoas Muscle	Psoas
10	chr2:55820200-55831400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:55820600-55832000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:55821400-55831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:55822000-55831200	Strong transcription	Fetal Thymus	thymus
14	chr2:55822600-55832400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:55822800-55830800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:55824400-55837400	Weak transcription	Fetal Kidney	kidney
17	chr2:55826000-55831200	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:55826000-55835800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:55826000-55839200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:55826000-55841600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:55826200-55830800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:55826200-55831600	Weak transcription	Brain Substantia Nigra	brain
23	chr2:55826200-55836000	Weak transcription	Ovary	ovary
24	chr2:55826200-55842600	Weak transcription	Right Ventricle	heart
25	chr2:55826200-55843000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:55827600-55831200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:55827600-55831400	Strong transcription	Placenta	Placenta
28	chr2:55827800-55830800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:55828000-55831000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:55828200-55830800	Strong transcription	Primary B cells from cord blood	blood
31	chr2:55828200-55830800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:55828200-55831600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:55828200-55843600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:55828400-55838000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:55829000-55831000	Strong transcription	Hela-S3	cervix
36	chr2:55829200-55830800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:55829200-55831000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:55829200-55831200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr2:55829200-55831400	Strong transcription	GM12878-XiMat	blood
40	chr2:55829400-55830800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:55829400-55830800	Strong transcription	NHDF-Ad	bronchial
42	chr2:55829800-55831400	Weak transcription	HSMMtube	muscle
43	chr2:55829800-55832200	Enhancers	Stomach Smooth Muscle	stomach
44	chr2:55829800-55836000	Weak transcription	Brain Angular Gyrus	brain
45	chr2:55829800-55838400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:55829800-55838400	Weak transcription	HMEC	breast
47	chr2:55829800-55838800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:55829800-55842800	Weak transcription	Colonic Mucosa	Colon
49	chr2:55830000-55831000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:55830000-55831000	Weak transcription	Osteobl	bone

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