Variant report

Variant	rs72819144
Chromosome Location	chr2:100548959-100548960
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2163042	1.00[AFR][1000 genomes]
rs72817100	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1003114	chr2:100480432-100601586	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100517600-100550200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:100523400-100558200	Weak transcription	Fetal Lung	lung
3	chr2:100532200-100555000	Weak transcription	Liver	Liver
4	chr2:100537200-100550400	Weak transcription	Dnd41	blood
5	chr2:100539400-100550200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:100540200-100572600	Weak transcription	Adipose Nuclei	Adipose
7	chr2:100540600-100550200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:100541200-100550200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:100541800-100575000	Weak transcription	Brain Germinal Matrix	brain
10	chr2:100543400-100550200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:100545600-100572600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:100546000-100559400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:100546400-100550400	Strong transcription	Primary B cells from cord blood	blood
14	chr2:100547000-100550400	Weak transcription	Spleen	Spleen
15	chr2:100547600-100552800	Weak transcription	Fetal Brain Female	brain
16	chr2:100547600-100569200	Weak transcription	Fetal Stomach	stomach
17	chr2:100547600-100577200	Weak transcription	Thymus	Thymus
18	chr2:100548000-100550200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:100548200-100551400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:100548400-100555400	Weak transcription	Aorta	Aorta
21	chr2:100548800-100549000	Enhancers	GM12878-XiMat	blood
22	chr2:100548800-100549200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:100548800-100549200	ZNF genes & repeats	Lung	lung
24	chr2:100548800-100554000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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