Variant report

Variant	rs2244456
Chromosome Location	chr5:167156345-167156346
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10057249	0.81[EUR][1000 genomes]
rs1459072	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs203309	0.85[CHB][hapmap]
rs2337020	0.80[CEU][hapmap];0.84[CHB][hapmap]
rs279403	0.84[CEU][hapmap];0.83[AMR][1000 genomes]
rs279404	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs279413	0.83[CEU][hapmap]
rs279416	0.84[CEU][hapmap];0.88[JPT][hapmap]
rs875208	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167148600-167157000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:167148800-167156800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:167149200-167156400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:167150400-167156800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:167151000-167156800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:167152600-167170000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:167152800-167156600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:167153000-167165800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:167154800-167157000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:167155600-167156400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr5:167155600-167158000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:167155800-167156400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:167155800-167156400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:167155800-167158000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr5:167155800-167158400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:167156000-167156400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:167156000-167156600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:167156000-167157400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:167156000-167158000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:167156000-167158000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:167156000-167158000	Enhancers	NH-A	brain
22	chr5:167156000-167158000	Enhancers	NHDF-Ad	bronchial
23	chr5:167156000-167158400	Enhancers	HMEC	breast
24	chr5:167156000-167158400	Enhancers	HSMM	muscle
25	chr5:167156000-167158400	Enhancers	NHEK	skin
26	chr5:167156000-167160400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:167156200-167156400	Enhancers	Adipose Nuclei	Adipose
28	chr5:167156200-167156600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:167156200-167157800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:167156200-167158000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:167156200-167158000	Enhancers	Osteobl	bone

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