Variant report

Variant	rs34908451
Chromosome Location	chr3:52385115-52385116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52384981..52388271-chr3:52408939..52411277,3	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1077142	0.93[EUR][1000 genomes]
rs11705963	0.93[EUR][1000 genomes]
rs11706001	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11706108	0.93[EUR][1000 genomes]
rs11707864	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707931	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709658	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711934	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11711974	0.80[AFR][1000 genomes]
rs11714402	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11716017	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718125	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11721277	0.81[AFR][1000 genomes]
rs123598	1.00[ASN][1000 genomes]
rs123602	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs123603	1.00[ASN][1000 genomes]
rs13059674	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13060192	1.00[ASN][1000 genomes]
rs13075370	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13076508	1.00[ASN][1000 genomes]
rs13076890	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13089892	1.00[ASN][1000 genomes]
rs13091360	1.00[ASN][1000 genomes]
rs13091545	0.92[EUR][1000 genomes]
rs13096571	1.00[ASN][1000 genomes]
rs17052058	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17052061	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17052068	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016575	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2109557	1.00[ASN][1000 genomes]
rs2159607	0.81[EUR][1000 genomes]
rs2335640	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28481563	0.93[EUR][1000 genomes]
rs2878549	1.00[ASN][1000 genomes]
rs34181173	1.00[ASN][1000 genomes]
rs34238085	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34261027	0.81[EUR][1000 genomes]
rs34332947	1.00[ASN][1000 genomes]
rs34355561	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34523877	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34628357	1.00[ASN][1000 genomes]
rs34762015	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34827613	1.00[ASN][1000 genomes]
rs35133416	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35860312	0.93[EUR][1000 genomes]
rs35982798	1.00[ASN][1000 genomes]
rs3752819	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796343	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs390802	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs419050	1.00[ASN][1000 genomes]
rs419604	1.00[ASN][1000 genomes]
rs419752	1.00[ASN][1000 genomes]
rs498778	1.00[ASN][1000 genomes]
rs498946	0.90[EUR][1000 genomes]
rs55965068	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55997317	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56322342	0.80[AFR][1000 genomes]
rs56357549	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56899118	0.85[AFR][1000 genomes]
rs57441156	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs575476	1.00[ASN][1000 genomes]
rs59612757	0.92[EUR][1000 genomes]
rs61150019	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61734640	1.00[ASN][1000 genomes]
rs6445386	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66462821	0.92[EUR][1000 genomes]
rs67248391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6763882	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67834575	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794675	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6795333	1.00[ASN][1000 genomes]
rs6796333	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6800707	0.83[EUR][1000 genomes]
rs71297391	1.00[ASN][1000 genomes]
rs71297394	1.00[ASN][1000 genomes]
rs71297395	1.00[ASN][1000 genomes]
rs71297396	1.00[ASN][1000 genomes]
rs73091168	0.85[AFR][1000 genomes]
rs7643570	0.92[EUR][1000 genomes]
rs82825	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9844183	0.91[EUR][1000 genomes]
rs9861879	0.93[EUR][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	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
2	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv984542	chr3:52285682-52516115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv834696	chr3:52317478-52479537	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52364800-52394400	Weak transcription	HSMMtube	muscle
2	chr3:52366600-52386600	Weak transcription	Aorta	Aorta
3	chr3:52373800-52396000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:52374000-52385400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:52374000-52386200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:52374000-52399000	Weak transcription	Stomach Mucosa	stomach
7	chr3:52374000-52407000	Strong transcription	Fetal Intestine Small	intestine
8	chr3:52374200-52427000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:52375400-52405600	Strong transcription	Lung	lung
10	chr3:52376400-52402000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:52377000-52406600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:52377000-52406600	Strong transcription	Liver	Liver
13	chr3:52377200-52390600	Strong transcription	Primary T cells from cord blood	blood
14	chr3:52377200-52405200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr3:52377400-52397400	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr3:52377400-52404800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:52377400-52406600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:52377400-52406800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:52377600-52406200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:52377800-52406200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr3:52377800-52407200	Strong transcription	Fetal Intestine Large	intestine
22	chr3:52378200-52391600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:52378400-52400000	Strong transcription	Brain Anterior Caudate	brain
24	chr3:52378400-52401200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:52378400-52401200	Strong transcription	Gastric	stomach
26	chr3:52378400-52401800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:52378600-52389800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:52378600-52390800	Strong transcription	Thymus	Thymus
29	chr3:52378600-52400000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:52378600-52400200	Strong transcription	Brain Cingulate Gyrus	brain
31	chr3:52378600-52400200	Strong transcription	Brain Hippocampus Middle	brain
32	chr3:52378600-52405000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:52378600-52406800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr3:52379200-52389800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:52379200-52391000	Strong transcription	Primary B cells from cord blood	blood
36	chr3:52379400-52410600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr3:52380400-52401000	Strong transcription	Placenta	Placenta
38	chr3:52380800-52396400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:52381200-52387000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:52381400-52401200	Strong transcription	Ovary	ovary
41	chr3:52381400-52402600	Strong transcription	Fetal Stomach	stomach
42	chr3:52381400-52404200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:52381400-52407400	Weak transcription	NHLF	lung
44	chr3:52381600-52385400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:52381600-52392600	Weak transcription	Colon Smooth Muscle	Colon
46	chr3:52381600-52396400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:52381600-52397600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr3:52381600-52405400	Strong transcription	Adipose Nuclei	Adipose
49	chr3:52381600-52405800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr3:52381800-52397000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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