Variant report

Variant	rs9613428
Chromosome Location	chr22:27728091-27728092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16984284	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28546189	1.00[AMR][1000 genomes]
rs73153970	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9613427	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27724600-27729000	Enhancers	Fetal Brain Male	brain
2	chr22:27727000-27729200	Active TSS	Brain Anterior Caudate	brain
3	chr22:27727400-27728200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr22:27727400-27728200	Enhancers	Primary hematopoietic stem cells	blood
5	chr22:27727400-27728200	Active TSS	Fetal Brain Female	brain
6	chr22:27727400-27728200	Enhancers	Pancreas	Pancrea
7	chr22:27727400-27728400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr22:27727400-27728400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr22:27727400-27728400	Bivalent Enhancer	Fetal Stomach	stomach
10	chr22:27727400-27728600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr22:27727600-27728200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:27727600-27728200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:27727600-27728200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:27727600-27728200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:27727600-27728200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:27727600-27728200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr22:27727600-27728200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr22:27727600-27728400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:27727600-27728400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:27727600-27728400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr22:27727600-27728400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr22:27727600-27728400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr22:27727600-27728400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr22:27727600-27728400	Enhancers	Adipose Nuclei	Adipose
25	chr22:27727600-27728400	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr22:27727600-27728400	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr22:27727600-27728400	Enhancers	Ovary	ovary
28	chr22:27727800-27728200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr22:27727800-27728200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr22:27727800-27728200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:27727800-27728200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr22:27727800-27728200	Enhancers	Aorta	Aorta
33	chr22:27727800-27728200	Enhancers	Brain Cingulate Gyrus	brain
34	chr22:27727800-27728200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr22:27727800-27728200	Bivalent Enhancer	Left Ventricle	heart
36	chr22:27727800-27728200	Enhancers	Right Atrium	heart
37	chr22:27727800-27728200	Enhancers	Right Ventricle	heart
38	chr22:27727800-27728200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr22:27727800-27728400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:27727800-27728400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:27727800-27728400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:27727800-27728400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr22:27727800-27728400	Enhancers	Fetal Lung	lung
44	chr22:27727800-27728400	Enhancers	NH-A	brain
45	chr22:27727800-27728400	Bivalent Enhancer	Osteobl	bone
46	chr22:27728000-27728200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr22:27728000-27728200	Enhancers	Colon Smooth Muscle	Colon
48	chr22:27728000-27728200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr22:27728000-27728200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
50	chr22:27728000-27728200	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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