Variant report

Variant	rs34506074
Chromosome Location	chr2:100623130-100623131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10199263	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883471	1.00[EUR][1000 genomes]
rs11900758	1.00[EUR][1000 genomes]
rs17023314	1.00[EUR][1000 genomes]
rs55983621	1.00[EUR][1000 genomes]
rs59644088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59824534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707538	0.90[EUR][1000 genomes]
rs6758652	0.91[EUR][1000 genomes]
rs73964368	1.00[EUR][1000 genomes]
rs73964369	1.00[EUR][1000 genomes]
rs73964370	1.00[EUR][1000 genomes]
rs73964371	0.90[EUR][1000 genomes]
rs73964373	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964374	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964375	1.00[EUR][1000 genomes]
rs73964377	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964378	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964380	1.00[EUR][1000 genomes]
rs73964383	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964385	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964387	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964389	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73964391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964394	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964396	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964401	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7606572	1.00[EUR][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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100563200-100625400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:100592600-100626400	Weak transcription	NH-A	brain
3	chr2:100605200-100627200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:100605400-100627800	Weak transcription	Right Ventricle	heart
5	chr2:100610800-100625800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:100613200-100626200	Strong transcription	Primary B cells from cord blood	blood
8	chr2:100614400-100625600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:100614800-100623400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:100615600-100626600	Strong transcription	Primary T cells from cord blood	blood
11	chr2:100615600-100638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:100616600-100625200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:100617200-100625800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:100617600-100627400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:100617800-100626200	Weak transcription	Placenta	Placenta
16	chr2:100618200-100624200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:100618200-100625000	Weak transcription	Left Ventricle	heart
18	chr2:100618600-100623600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:100619600-100625000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:100620000-100625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:100620200-100625400	Weak transcription	Fetal Kidney	kidney
22	chr2:100620200-100628000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:100620400-100626000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:100620600-100625400	Weak transcription	Fetal Brain Male	brain
25	chr2:100620600-100635200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:100621200-100623200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:100621400-100623600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr2:100621400-100625200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:100621600-100623200	Weak transcription	Right Atrium	heart
30	chr2:100621600-100625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:100621600-100626600	Strong transcription	Dnd41	blood
32	chr2:100621800-100625200	Strong transcription	Fetal Thymus	thymus
33	chr2:100622000-100625000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:100622200-100623200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr2:100622200-100625000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:100622600-100625600	Strong transcription	Fetal Brain Female	brain
37	chr2:100622800-100624200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:100622800-100624800	Strong transcription	Brain Germinal Matrix	brain
39	chr2:100623000-100623600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:100623000-100623600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:100623000-100623600	Strong transcription	Aorta	Aorta
42	chr2:100623000-100623600	Strong transcription	Fetal Intestine Small	intestine
43	chr2:100623000-100623600	Strong transcription	Spleen	Spleen
44	chr2:100623000-100623800	Strong transcription	Liver	Liver
45	chr2:100623000-100623800	Strong transcription	Brain Angular Gyrus	brain
46	chr2:100623000-100623800	Strong transcription	Fetal Stomach	stomach
47	chr2:100623000-100623800	Strong transcription	Ovary	ovary
48	chr2:100623000-100624000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:100623000-100624000	Strong transcription	Adipose Nuclei	Adipose
50	chr2:100623000-100624000	Strong transcription	Colon Smooth Muscle	Colon

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