Variant report

Variant	rs11920772
Chromosome Location	chr3:53345158-53345159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11919567	1.00[AMR][1000 genomes]
rs11921961	1.00[AMR][1000 genomes]
rs11925433	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030942	0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052997	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17053116	1.00[AMR][1000 genomes]
rs58338691	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59254994	1.00[AMR][1000 genomes]
rs60350276	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61299945	1.00[AMR][1000 genomes]
rs6787817	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs68140464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954817	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954820	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954825	1.00[AMR][1000 genomes]
rs72954827	1.00[AMR][1000 genomes]
rs72954837	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72957594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876801	chr3:53325905-53467506	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv876802	chr3:53325905-53470863	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53309400-53351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:53318000-53345800	Weak transcription	Stomach Mucosa	stomach
3	chr3:53321800-53347600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:53322400-53353600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:53326600-53364400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:53327200-53358200	Weak transcription	K562	blood
7	chr3:53328000-53347200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:53331600-53349000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:53332600-53355600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:53334400-53347400	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr3:53334600-53347200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr3:53334600-53347600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:53334600-53355200	Strong transcription	Fetal Stomach	stomach
14	chr3:53334600-53358400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:53335000-53347800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:53335400-53354200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr3:53335600-53347400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr3:53335600-53348600	Strong transcription	Fetal Thymus	thymus
19	chr3:53337200-53347600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:53338000-53345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:53338000-53345800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:53338000-53345800	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:53338000-53346000	Weak transcription	Aorta	Aorta
24	chr3:53338000-53351400	Weak transcription	Right Atrium	heart
25	chr3:53338000-53374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:53338200-53352000	Weak transcription	Colonic Mucosa	Colon
27	chr3:53338200-53352600	Weak transcription	A549	lung
28	chr3:53338200-53355200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:53338200-53380200	Weak transcription	Fetal Brain Male	brain
30	chr3:53338400-53346200	Weak transcription	Fetal Heart	heart
31	chr3:53338400-53367400	Weak transcription	Small Intestine	intestine
32	chr3:53339000-53347000	Strong transcription	Liver	Liver
33	chr3:53339200-53347200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:53339400-53346600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:53340200-53347200	Strong transcription	Fetal Intestine Large	intestine
36	chr3:53340200-53347800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:53340400-53346400	Strong transcription	HUVEC	blood vessel
38	chr3:53340400-53346800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr3:53341000-53347200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:53341000-53353200	Strong transcription	Primary T cells from cord blood	blood
41	chr3:53341200-53346000	Strong transcription	Left Ventricle	heart
42	chr3:53341200-53346400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:53341200-53346600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:53341200-53346800	Strong transcription	Thymus	Thymus
45	chr3:53341200-53347000	Strong transcription	NH-A	brain
46	chr3:53341200-53347400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:53341200-53347400	Strong transcription	Fetal Muscle Leg	muscle
48	chr3:53341200-53347400	Strong transcription	Placenta	Placenta
49	chr3:53341200-53349400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:53341200-53353200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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