Variant report

Variant	rs72898800
Chromosome Location	chr1:47163821-47163822
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1258062	1.00[AMR][1000 genomes]
rs17102443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102459	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2984805	1.00[AMR][1000 genomes]
rs58568840	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs599869	1.00[AMR][1000 genomes]
rs635972	1.00[AMR][1000 genomes]
rs644675	1.00[AMR][1000 genomes]
rs654509	1.00[AMR][1000 genomes]
rs659308	1.00[AMR][1000 genomes]
rs682000	1.00[AMR][1000 genomes]
rs72886508	1.00[AMR][1000 genomes]
rs72886510	1.00[AMR][1000 genomes]
rs72886514	1.00[AMR][1000 genomes]
rs72900717	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900729	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900756	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900763	1.00[AMR][1000 genomes]
rs72900764	1.00[AMR][1000 genomes]
rs72900776	1.00[AMR][1000 genomes]
rs7544284	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47141400-47183400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:47143800-47171600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:47154600-47183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:47155600-47169000	Weak transcription	Stomach Mucosa	stomach
5	chr1:47157600-47172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:47158200-47172000	Weak transcription	Brain Angular Gyrus	brain
7	chr1:47158800-47171000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:47159200-47182800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:47159400-47171200	Weak transcription	Right Ventricle	heart
10	chr1:47159400-47172200	Weak transcription	Psoas Muscle	Psoas
11	chr1:47159600-47168200	Weak transcription	HMEC	breast
12	chr1:47160600-47165000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:47160600-47165200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr1:47160600-47165200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:47160600-47165800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:47160600-47169000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:47160600-47169400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:47160600-47173600	Strong transcription	Primary T cells from cord blood	blood
19	chr1:47160600-47174000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:47160600-47181200	Strong transcription	Dnd41	blood
21	chr1:47160800-47164000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:47160800-47164600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:47160800-47164800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:47160800-47164800	Strong transcription	Adipose Nuclei	Adipose
25	chr1:47160800-47165000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:47160800-47165000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:47160800-47165200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:47160800-47165200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:47160800-47165600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:47160800-47165600	Strong transcription	Fetal Thymus	thymus
31	chr1:47160800-47165600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr1:47160800-47166000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:47160800-47166000	Strong transcription	Fetal Muscle Leg	muscle
34	chr1:47160800-47166000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr1:47160800-47166200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:47160800-47166600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:47160800-47168600	Strong transcription	Left Ventricle	heart
38	chr1:47160800-47174000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:47160800-47175400	Strong transcription	Liver	Liver
40	chr1:47160800-47181800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:47160800-47182200	Strong transcription	Primary B cells from cord blood	blood
42	chr1:47160800-47182200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:47160800-47182400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:47160800-47182600	Strong transcription	Placenta	Placenta
45	chr1:47161000-47164000	Strong transcription	Fetal Stomach	stomach
46	chr1:47161000-47164600	Strong transcription	Brain Hippocampus Middle	brain
47	chr1:47161000-47164800	Strong transcription	Fetal Lung	lung
48	chr1:47161000-47165200	Strong transcription	Fetal Brain Female	brain
49	chr1:47161000-47165200	Strong transcription	Ovary	ovary
50	chr1:47161000-47165800	Strong transcription	K562	blood

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