Variant report

Variant	rs57085673
Chromosome Location	chr3:53353746-53353747
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs55739626	1.00[AMR][1000 genomes]
rs55797425	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56138740	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56403138	1.00[AMR][1000 genomes]
rs57188310	1.00[AMR][1000 genomes]
rs57320366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57530569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58006923	1.00[AMR][1000 genomes]
rs58191586	1.00[AMR][1000 genomes]
rs58563464	1.00[AMR][1000 genomes]
rs60407612	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60891705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72957562	1.00[AMR][1000 genomes]
rs73840109	1.00[AMR][1000 genomes]
rs73840110	1.00[AMR][1000 genomes]
rs73840113	1.00[AMR][1000 genomes]
rs73840218	1.00[AMR][1000 genomes]
rs73840219	1.00[AMR][1000 genomes]
rs73840220	1.00[AMR][1000 genomes]
rs73840224	1.00[AMR][1000 genomes]
rs73840228	1.00[AMR][1000 genomes]
rs73840236	1.00[AMR][1000 genomes]
rs73840239	1.00[AMR][1000 genomes]
rs73840247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840260	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840298	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843111	1.00[AMR][1000 genomes]
rs73843112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843113	1.00[AMR][1000 genomes]
rs73843115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843118	1.00[AFR][1000 genomes]
rs73843120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843124	1.00[AMR][1000 genomes]
rs73843127	1.00[AMR][1000 genomes]
rs73843129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843130	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843148	1.00[AMR][1000 genomes]
rs874586	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53326600-53364400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:53327200-53358200	Weak transcription	K562	blood
3	chr3:53332600-53355600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:53334600-53355200	Strong transcription	Fetal Stomach	stomach
5	chr3:53334600-53358400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:53335400-53354200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:53338000-53374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:53338200-53355200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:53338200-53380200	Weak transcription	Fetal Brain Male	brain
10	chr3:53338400-53367400	Weak transcription	Small Intestine	intestine
11	chr3:53341200-53354800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:53342600-53354000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr3:53344000-53354400	Weak transcription	Psoas Muscle	Psoas
14	chr3:53344000-53364200	Weak transcription	Right Ventricle	heart
15	chr3:53344600-53355600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:53344600-53358200	Weak transcription	Pancreas	Pancrea
17	chr3:53345800-53357800	Strong transcription	Fetal Intestine Small	intestine
18	chr3:53345800-53362600	Weak transcription	NHLF	lung
19	chr3:53346000-53373600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:53346200-53365200	Weak transcription	Fetal Kidney	kidney
21	chr3:53346200-53378600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:53346400-53354800	Weak transcription	Brain Substantia Nigra	brain
23	chr3:53346400-53358200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:53346400-53358200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:53346400-53358200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:53346400-53360400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:53346400-53360400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr3:53346400-53360400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:53346400-53360400	Weak transcription	Aorta	Aorta
30	chr3:53346400-53360400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:53346400-53362200	Weak transcription	Stomach Mucosa	stomach
32	chr3:53346400-53362800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr3:53346400-53365400	Weak transcription	Brain Angular Gyrus	brain
34	chr3:53346400-53367600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr3:53346400-53370000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:53346600-53380600	Weak transcription	Spleen	Spleen
37	chr3:53347000-53357200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr3:53347000-53359200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr3:53347200-53360400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:53347200-53371400	Weak transcription	HMEC	breast
41	chr3:53347400-53360600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:53349000-53354000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr3:53349000-53354400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr3:53349200-53354400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:53349800-53354000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr3:53350000-53353800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:53350000-53355000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:53350000-53356200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:53350200-53354000	Strong transcription	Placenta	Placenta
50	chr3:53350200-53355600	Strong transcription	HepG2	liver

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