Variant report

Variant	rs62149304
Chromosome Location	chr2:100605075-100605076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10185707	0.92[EUR][1000 genomes]
rs10198062	0.92[EUR][1000 genomes]
rs10209198	0.85[EUR][1000 genomes]
rs10211423	0.92[EUR][1000 genomes]
rs13385193	0.90[EUR][1000 genomes]
rs13392222	0.82[EUR][1000 genomes]
rs13393937	0.82[EUR][1000 genomes]
rs1574207	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17023362	0.90[EUR][1000 genomes]
rs17023378	0.90[EUR][1000 genomes]
rs17023391	0.88[EUR][1000 genomes]
rs17023393	0.88[EUR][1000 genomes]
rs17023453	0.83[EUR][1000 genomes]
rs17023459	0.83[EUR][1000 genomes]
rs17352514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17352745	0.85[EUR][1000 genomes]
rs17352801	0.85[EUR][1000 genomes]
rs17352808	0.85[EUR][1000 genomes]
rs17436955	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17436983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17437101	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17437248	0.82[EUR][1000 genomes]
rs17437282	0.85[EUR][1000 genomes]
rs17437338	0.85[EUR][1000 genomes]
rs2001722	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2309775	0.90[EUR][1000 genomes]
rs4485586	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55649403	0.87[EUR][1000 genomes]
rs55681051	0.87[EUR][1000 genomes]
rs58270548	0.81[EUR][1000 genomes]
rs62147652	0.83[EUR][1000 genomes]
rs62147658	0.83[EUR][1000 genomes]
rs62147659	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62149260	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62149262	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62149263	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62149264	1.00[AFR][1000 genomes]
rs62149268	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62149270	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62149272	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62149297	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62149298	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62149299	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62149301	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62149303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62149305	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62149307	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62149310	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62149311	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62149314	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62149316	0.91[EUR][1000 genomes]
rs62149319	0.83[EUR][1000 genomes]
rs62149320	0.85[EUR][1000 genomes]
rs62149321	0.85[EUR][1000 genomes]
rs62149341	0.85[EUR][1000 genomes]
rs62149343	0.81[EUR][1000 genomes]
rs6719214	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736239	0.87[EUR][1000 genomes]
rs6750214	0.84[EUR][1000 genomes]
rs72819146	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72819148	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72819149	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72819165	0.87[EUR][1000 genomes]
rs72819167	0.85[EUR][1000 genomes]
rs9308831	0.87[EUR][1000 genomes]
rs9308832	0.88[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100550800-100618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:100563200-100625400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:100564800-100617000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:100577400-100618200	Weak transcription	Aorta	Aorta
5	chr2:100577800-100607400	Weak transcription	Thymus	Thymus
6	chr2:100577800-100623000	Weak transcription	Adipose Nuclei	Adipose
7	chr2:100577800-100623000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:100578000-100616200	Weak transcription	Fetal Thymus	thymus
9	chr2:100582400-100608000	Weak transcription	Fetal Stomach	stomach
10	chr2:100583200-100608000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:100587400-100623000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:100587400-100623000	Weak transcription	Spleen	Spleen
13	chr2:100590400-100618000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:100591000-100607200	Weak transcription	Brain Germinal Matrix	brain
15	chr2:100592600-100626400	Weak transcription	NH-A	brain
16	chr2:100594600-100623000	Weak transcription	Gastric	stomach
17	chr2:100598600-100623000	Weak transcription	Lung	lung
18	chr2:100599000-100614000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:100599800-100606600	Weak transcription	Dnd41	blood
20	chr2:100600200-100607600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:100600400-100616800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:100601600-100607200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:100602800-100605400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:100603200-100605800	Enhancers	Fetal Kidney	kidney
25	chr2:100603400-100605600	Enhancers	Colon Smooth Muscle	Colon
26	chr2:100603400-100611600	Strong transcription	Primary B cells from cord blood	blood
27	chr2:100603800-100605400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:100603800-100605800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:100604200-100606800	Enhancers	Fetal Heart	heart
30	chr2:100604400-100605200	Enhancers	Fetal Muscle Leg	muscle
31	chr2:100604400-100605400	Strong transcription	Primary T cells from cord blood	blood
32	chr2:100604600-100605600	Enhancers	Rectal Smooth Muscle	rectum
33	chr2:100604600-100605800	Enhancers	Fetal Lung	lung
34	chr2:100604800-100605400	Enhancers	Left Ventricle	heart
35	chr2:100604800-100605400	Enhancers	Ovary	ovary
36	chr2:100605000-100605200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:100605000-100605600	Enhancers	Fetal Brain Male	brain
38	chr2:100605000-100614200	Weak transcription	Fetal Brain Female	brain

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