Variant report

Variant	rs8137442
Chromosome Location	chr22:28205657-28205658
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:6)

rs_ID	r²[population]
rs11912573	1.00[AMR][1000 genomes]
rs16985571	0.83[AFR][1000 genomes]
rs1970981	0.83[AFR][1000 genomes]
rs73427710	1.00[AMR][1000 genomes]
rs73427716	1.00[AMR][1000 genomes]
rs73432755	0.93[AFR][1000 genomes];1.00[AMR][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	nsv1059972	chr22:28089263-28227579	Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv829144	chr22:28172266-28209317	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv829145	chr22:28190900-28207081	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28199000-28206000	Weak transcription	Colon Smooth Muscle	Colon
2	chr22:28199000-28206200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr22:28199000-28206200	Weak transcription	Right Ventricle	heart
4	chr22:28199000-28206400	Weak transcription	Right Atrium	heart
5	chr22:28200800-28206000	Weak transcription	Hela-S3	cervix
6	chr22:28200800-28206200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr22:28200800-28206200	Weak transcription	NHEK	skin
8	chr22:28201000-28206200	Weak transcription	Liver	Liver
9	chr22:28201200-28206200	Weak transcription	Gastric	stomach
10	chr22:28201200-28206200	Weak transcription	Ovary	ovary
11	chr22:28201200-28206400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr22:28201400-28206200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:28201800-28206200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:28204000-28206400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:28204000-28206400	Enhancers	Fetal Muscle Trunk	muscle
16	chr22:28204400-28207600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr22:28204600-28206400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:28204600-28206600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:28204600-28207800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr22:28204600-28208000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr22:28204800-28206200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr22:28205000-28206600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:28205000-28207000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:28205200-28205800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr22:28205200-28206000	Enhancers	Aorta	Aorta
26	chr22:28205200-28206200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:28205200-28206600	Enhancers	Primary hematopoietic stem cells	blood
28	chr22:28205200-28206800	Enhancers	Brain Germinal Matrix	brain
29	chr22:28205200-28206800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr22:28205200-28206800	Enhancers	Lung	lung
31	chr22:28205200-28207000	Bivalent Enhancer	Fetal Stomach	stomach
32	chr22:28205200-28208000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:28205400-28205800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:28205400-28206000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:28205400-28206200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr22:28205400-28206200	Enhancers	Stomach Smooth Muscle	stomach
37	chr22:28205400-28206600	Enhancers	HUVEC	blood vessel
38	chr22:28205400-28207400	Enhancers	Fetal Muscle Leg	muscle
39	chr22:28205600-28205800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr22:28205600-28206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr22:28205600-28206400	Enhancers	Rectal Smooth Muscle	rectum
42	chr22:28205600-28207000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:28205600-28207200	Enhancers	Brain Cingulate Gyrus	brain
44	chr22:28205600-28207400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:28205600-28207400	Enhancers	Esophagus	oesophagus

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