Variant report

Variant	rs72957594
Chromosome Location	chr3:53347193-53347194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11919567	1.00[AMR][1000 genomes]
rs11920772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11921961	1.00[AMR][1000 genomes]
rs11925433	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030942	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052997	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]
rs72964389	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	chr3:53321800-53347600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:53322400-53353600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:53326600-53364400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:53327200-53358200	Weak transcription	K562	blood
6	chr3:53328000-53347200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:53331600-53349000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:53332600-53355600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:53334400-53347400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr3:53334600-53347200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr3:53334600-53347600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:53334600-53355200	Strong transcription	Fetal Stomach	stomach
13	chr3:53334600-53358400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:53335000-53347800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:53335400-53354200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:53335600-53347400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr3:53335600-53348600	Strong transcription	Fetal Thymus	thymus
18	chr3:53337200-53347600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:53338000-53351400	Weak transcription	Right Atrium	heart
20	chr3:53338000-53374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:53338200-53352000	Weak transcription	Colonic Mucosa	Colon
22	chr3:53338200-53352600	Weak transcription	A549	lung
23	chr3:53338200-53355200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:53338200-53380200	Weak transcription	Fetal Brain Male	brain
25	chr3:53338400-53367400	Weak transcription	Small Intestine	intestine
26	chr3:53339200-53347200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:53340200-53347200	Strong transcription	Fetal Intestine Large	intestine
28	chr3:53340200-53347800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:53341000-53347200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr3:53341000-53353200	Strong transcription	Primary T cells from cord blood	blood
31	chr3:53341200-53347400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:53341200-53347400	Strong transcription	Fetal Muscle Leg	muscle
33	chr3:53341200-53347400	Strong transcription	Placenta	Placenta
34	chr3:53341200-53349400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:53341200-53353200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:53341200-53354800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:53341400-53347200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:53341400-53347200	Strong transcription	Dnd41	blood
39	chr3:53341400-53348600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:53341800-53347800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr3:53342400-53347800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr3:53342600-53347400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:53342600-53347400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:53342600-53347400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:53342600-53354000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr3:53343200-53347400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:53343600-53347200	Strong transcription	HMEC	breast
48	chr3:53343800-53347200	Strong transcription	NHEK	skin
49	chr3:53344000-53354400	Weak transcription	Psoas Muscle	Psoas
50	chr3:53344000-53364200	Weak transcription	Right Ventricle	heart

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