Variant report

Variant	rs5762357
Chromosome Location	chr22:28186959-28186960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28185193..28187033-chr22:28231528..28234236,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2267119	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28170600-28192600	Weak transcription	HMEC	breast
2	chr22:28171600-28190400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:28176600-28191000	Weak transcription	NHEK	skin
4	chr22:28176800-28190000	Weak transcription	Hela-S3	cervix
5	chr22:28177600-28188000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:28180000-28187400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:28180200-28191000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:28180200-28191200	Weak transcription	Right Atrium	heart
9	chr22:28181200-28189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:28181400-28187600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:28181600-28187000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr22:28182400-28187400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:28182600-28187200	Weak transcription	Aorta	Aorta
14	chr22:28182800-28189800	Weak transcription	Ovary	ovary
15	chr22:28182800-28192800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr22:28183200-28187000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr22:28183600-28187600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:28184000-28187200	Weak transcription	Right Ventricle	heart
19	chr22:28184400-28190600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr22:28186000-28187000	Strong transcription	Fetal Intestine Small	intestine
21	chr22:28186000-28187800	Enhancers	Psoas Muscle	Psoas
22	chr22:28186200-28187000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:28186200-28187000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr22:28186200-28187200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:28186200-28187400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:28186200-28187800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:28186200-28188000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:28186200-28190200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr22:28186200-28191000	Genic enhancers	Fetal Stomach	stomach
30	chr22:28186200-28196000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:28186400-28187000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:28186400-28187000	Enhancers	NH-A	brain
33	chr22:28186400-28187200	Enhancers	Fetal Brain Male	brain
34	chr22:28186400-28187600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr22:28186400-28187600	Enhancers	Left Ventricle	heart
36	chr22:28186400-28187800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:28186400-28190200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:28186600-28187000	Flanking Active TSS	Fetal Brain Female	brain
39	chr22:28186600-28187000	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr22:28186600-28187000	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr22:28186600-28187200	Active TSS	Stomach Smooth Muscle	stomach
42	chr22:28186600-28187400	Active TSS	Brain Germinal Matrix	brain
43	chr22:28186600-28187600	Enhancers	Fetal Muscle Trunk	muscle
44	chr22:28186600-28192800	Weak transcription	Lung	lung
45	chr22:28186800-28187000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
46	chr22:28186800-28187200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
47	chr22:28186800-28187200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr22:28186800-28187400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr22:28186800-28187400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
50	chr22:28186800-28187400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links