Variant report

Variant	rs384770
Chromosome Location	chr22:28170723-28170724
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28169806..28172162-chr22:28176132..28178797,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9620752	1.00[JPT][hapmap]

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	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
2	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
3	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
4	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28148000-28171200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:28150800-28171000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr22:28156800-28182000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:28158200-28174400	Weak transcription	Right Ventricle	heart
5	chr22:28161000-28171400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:28162200-28171000	Weak transcription	Ovary	ovary
7	chr22:28162400-28176000	Weak transcription	Hela-S3	cervix
8	chr22:28162800-28171200	Weak transcription	Lung	lung
9	chr22:28164400-28180800	Weak transcription	Aorta	Aorta
10	chr22:28165400-28170800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:28165400-28171200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:28166200-28171600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr22:28166400-28171000	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:28166600-28170800	Weak transcription	Psoas Muscle	Psoas
15	chr22:28167800-28171000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr22:28168200-28171800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr22:28168200-28180600	Enhancers	Fetal Brain Male	brain
18	chr22:28168400-28171200	Weak transcription	Adipose Nuclei	Adipose
19	chr22:28168800-28171200	Weak transcription	Brain Substantia Nigra	brain
20	chr22:28168800-28171600	Strong transcription	Fetal Intestine Small	intestine
21	chr22:28168800-28171800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:28168800-28171800	Genic enhancers	Fetal Stomach	stomach
23	chr22:28169200-28171000	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr22:28169400-28171600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr22:28169400-28171800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:28169400-28173400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr22:28169600-28171000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:28169600-28171200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr22:28169600-28171200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr22:28169600-28171200	Genic enhancers	Fetal Brain Female	brain
31	chr22:28169600-28171200	Weak transcription	NHDF-Ad	bronchial
32	chr22:28169600-28171400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr22:28169600-28171400	Weak transcription	Brain Angular Gyrus	brain
34	chr22:28169600-28171800	Genic enhancers	Brain Germinal Matrix	brain
35	chr22:28169800-28171000	Weak transcription	Fetal Muscle Leg	muscle
36	chr22:28170000-28171000	Enhancers	NHEK	skin
37	chr22:28170000-28171400	Enhancers	Stomach Smooth Muscle	stomach
38	chr22:28170000-28171600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:28170000-28171800	Enhancers	Primary hematopoietic stem cells	blood
40	chr22:28170000-28172400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:28170000-28172800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:28170000-28173000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr22:28170200-28171000	Strong transcription	NH-A	brain
44	chr22:28170200-28171200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:28170200-28171600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:28170200-28171600	Enhancers	Brain Anterior Caudate	brain
47	chr22:28170200-28172000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr22:28170200-28172000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr22:28170200-28172800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr22:28170400-28171400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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