Variant report

Variant	rs1547072
Chromosome Location	chr22:27973569-27973570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2065061	0.93[ASW][hapmap];0.86[LWK][hapmap]
rs4822915	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4822916	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762258	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762260	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv588877	chr22:27930080-28094845	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27967200-27973800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr22:27969800-27980800	Enhancers	Fetal Stomach	stomach
3	chr22:27970000-27973600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:27970000-27975800	Enhancers	Fetal Muscle Trunk	muscle
5	chr22:27970200-27979600	Weak transcription	Fetal Intestine Small	intestine
6	chr22:27970600-27974000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr22:27971000-27980400	Enhancers	Fetal Muscle Leg	muscle
8	chr22:27971200-27973600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:27971600-27973600	Enhancers	Fetal Brain Male	brain
10	chr22:27971600-27974000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:27971600-27974000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:27972200-27973800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:27972200-27973800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:27972200-27973800	Enhancers	Right Atrium	heart
15	chr22:27972200-27976000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr22:27972400-27973800	Enhancers	Brain Germinal Matrix	brain
17	chr22:27972400-27973800	Enhancers	Ovary	ovary
18	chr22:27972400-27974000	Enhancers	HUVEC	blood vessel
19	chr22:27972400-27974000	Enhancers	NH-A	brain
20	chr22:27972400-27974200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:27972600-27973600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:27972600-27973600	Enhancers	Adipose Nuclei	Adipose
23	chr22:27972600-27973600	Enhancers	Spleen	Spleen
24	chr22:27972600-27973800	Enhancers	Fetal Intestine Large	intestine
25	chr22:27972600-27973800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr22:27972600-27974000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:27972800-27973800	Enhancers	Fetal Lung	lung
28	chr22:27972800-27974000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr22:27973000-27973600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:27973000-27973800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
31	chr22:27973000-27975800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr22:27973200-27973800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr22:27973200-27973800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
34	chr22:27973200-27974000	Bivalent Enhancer	Placenta	Placenta
35	chr22:27973200-27979400	Weak transcription	Pancreas	Pancrea
36	chr22:27973400-27973800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr22:27973400-27973800	Enhancers	Colonic Mucosa	Colon
38	chr22:27973400-27973800	Enhancers	Fetal Thymus	thymus
39	chr22:27973400-27974000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:27973400-27974000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:27973400-27975000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:27973400-27976800	Weak transcription	Fetal Brain Female	brain

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