Variant report

Variant	rs55681051
Chromosome Location	chr2:100620655-100620656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10164818	0.81[EUR][1000 genomes]
rs10165066	0.84[EUR][1000 genomes]
rs10183465	0.85[EUR][1000 genomes]
rs10185707	0.85[EUR][1000 genomes]
rs10187195	0.85[EUR][1000 genomes]
rs10189707	0.84[EUR][1000 genomes]
rs10198062	0.85[EUR][1000 genomes]
rs10198187	0.85[EUR][1000 genomes]
rs10211423	0.85[EUR][1000 genomes]
rs11887136	0.84[EUR][1000 genomes]
rs11897706	0.81[EUR][1000 genomes]
rs13382597	0.85[EUR][1000 genomes]
rs13383014	0.85[EUR][1000 genomes]
rs13385193	0.97[EUR][1000 genomes]
rs13405987	0.85[EUR][1000 genomes]
rs13410695	0.85[EUR][1000 genomes]
rs13410884	0.84[EUR][1000 genomes]
rs13413309	0.87[EUR][1000 genomes]
rs13416574	0.84[EUR][1000 genomes]
rs17023362	0.97[EUR][1000 genomes]
rs17023378	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17023391	0.99[EUR][1000 genomes]
rs17023393	0.99[EUR][1000 genomes]
rs17352514	0.87[EUR][1000 genomes]
rs17436983	0.85[EUR][1000 genomes]
rs17437101	0.89[EUR][1000 genomes]
rs2309775	0.97[EUR][1000 genomes]
rs4129805	0.85[EUR][1000 genomes]
rs4485586	0.89[EUR][1000 genomes]
rs4641993	0.81[EUR][1000 genomes]
rs55649403	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56332326	0.84[EUR][1000 genomes]
rs57360658	0.82[EUR][1000 genomes]
rs62149271	0.84[EUR][1000 genomes]
rs62149296	0.85[EUR][1000 genomes]
rs62149302	0.85[EUR][1000 genomes]
rs62149303	0.85[EUR][1000 genomes]
rs62149304	0.87[EUR][1000 genomes]
rs62149305	0.89[EUR][1000 genomes]
rs62149307	0.89[EUR][1000 genomes]
rs62149310	0.89[EUR][1000 genomes]
rs62149311	0.88[EUR][1000 genomes]
rs62149314	0.89[EUR][1000 genomes]
rs62149316	0.84[EUR][1000 genomes]
rs6719214	0.87[EUR][1000 genomes]
rs6736239	1.00[EUR][1000 genomes]
rs72819147	0.84[EUR][1000 genomes]
rs72819157	0.85[EUR][1000 genomes]
rs72819165	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7425132	0.82[EUR][1000 genomes]
rs7576469	0.85[EUR][1000 genomes]
rs7577040	0.82[EUR][1000 genomes]
rs9308832	0.99[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:54 , 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	chr2:100577800-100623000	Weak transcription	Adipose Nuclei	Adipose
3	chr2:100577800-100623000	Weak transcription	Brain Angular Gyrus	brain
4	chr2:100587400-100623000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:100587400-100623000	Weak transcription	Spleen	Spleen
6	chr2:100592600-100626400	Weak transcription	NH-A	brain
7	chr2:100594600-100623000	Weak transcription	Gastric	stomach
8	chr2:100598600-100623000	Weak transcription	Lung	lung
9	chr2:100605200-100627200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:100605400-100623000	Weak transcription	Ovary	ovary
11	chr2:100605400-100627800	Weak transcription	Right Ventricle	heart
12	chr2:100607400-100623000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:100607800-100622800	Weak transcription	Brain Germinal Matrix	brain
14	chr2:100610800-100625800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:100613200-100626200	Strong transcription	Primary B cells from cord blood	blood
17	chr2:100614400-100625600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:100614800-100623400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:100615000-100623000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:100615000-100623000	Weak transcription	Thymus	Thymus
21	chr2:100615600-100621200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:100615600-100626600	Strong transcription	Primary T cells from cord blood	blood
23	chr2:100615600-100638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:100616000-100623000	Weak transcription	Fetal Lung	lung
25	chr2:100616000-100623000	Weak transcription	Osteobl	bone
26	chr2:100616200-100621400	Weak transcription	Right Atrium	heart
27	chr2:100616600-100625200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:100617200-100625800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:100617600-100627400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:100617800-100626200	Weak transcription	Placenta	Placenta
31	chr2:100618200-100624200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:100618200-100625000	Weak transcription	Left Ventricle	heart
33	chr2:100618400-100621800	Weak transcription	Fetal Thymus	thymus
34	chr2:100618600-100622800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:100618600-100623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:100618600-100623000	Weak transcription	Aorta	Aorta
37	chr2:100618600-100623000	Weak transcription	Fetal Stomach	stomach
38	chr2:100618600-100623600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:100618800-100621400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:100619200-100621200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:100619200-100623000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:100619400-100621400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:100619600-100621600	Weak transcription	Dnd41	blood
44	chr2:100619600-100625000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:100620000-100621000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:100620000-100625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:100620200-100622600	Weak transcription	Fetal Brain Female	brain
48	chr2:100620200-100625400	Weak transcription	Fetal Kidney	kidney
49	chr2:100620200-100628000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:100620400-100626000	Weak transcription	Rectal Mucosa Donor 29	rectum

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