Variant report

Variant	rs4823001
Chromosome Location	chr22:29383196-29383197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10483153	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12627758	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs12628368	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16986814	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs16986873	0.96[ASN][1000 genomes]
rs16986951	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16986993	0.88[ASN][1000 genomes]
rs1986295	0.88[ASN][1000 genomes]
rs41341948	0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4820793	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4822999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823000	0.82[MEX][hapmap]
rs4823004	0.88[ASN][1000 genomes]
rs7286026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8137589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8140640	0.82[MEX][hapmap]
rs9625657	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs974369	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
2	chr22:29373400-29390800	Weak transcription	Hela-S3	cervix
3	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr22:29374400-29395200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:29374600-29385000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:29374600-29395600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
8	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:29374800-29384400	Weak transcription	Osteobl	bone
10	chr22:29375200-29385200	Weak transcription	Brain Substantia Nigra	brain
11	chr22:29375600-29390800	Weak transcription	NHDF-Ad	bronchial
12	chr22:29375800-29383200	Weak transcription	Brain Hippocampus Middle	brain
13	chr22:29375800-29383200	Weak transcription	Fetal Intestine Large	intestine
14	chr22:29375800-29395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:29376600-29383600	Weak transcription	K562	blood
16	chr22:29376600-29384200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:29378000-29383600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr22:29378000-29385400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr22:29378800-29384200	Weak transcription	A549	lung
20	chr22:29379000-29383200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:29379000-29383400	Enhancers	Adipose Nuclei	Adipose
22	chr22:29379600-29388400	Weak transcription	Psoas Muscle	Psoas
23	chr22:29379600-29400800	Weak transcription	Fetal Brain Female	brain
24	chr22:29379800-29383800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:29380000-29383200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr22:29380000-29388400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr22:29380400-29384800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:29380600-29384200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:29380800-29383200	Weak transcription	Brain Anterior Caudate	brain
30	chr22:29380800-29400800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:29381000-29383200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr22:29381000-29385200	Genic enhancers	HepG2	liver
33	chr22:29381000-29386600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr22:29381000-29388400	Weak transcription	Fetal Heart	heart
35	chr22:29381000-29393000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:29381000-29395600	Weak transcription	Esophagus	oesophagus
37	chr22:29381200-29383200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr22:29381200-29383400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:29381200-29383600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:29381200-29384200	Weak transcription	HMEC	breast
41	chr22:29381200-29384800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr22:29381200-29385000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:29381200-29400400	Weak transcription	Lung	lung
44	chr22:29381400-29389400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr22:29381600-29386000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr22:29381600-29389000	Weak transcription	Dnd41	blood
47	chr22:29381600-29395400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr22:29381800-29383200	Weak transcription	Fetal Stomach	stomach
49	chr22:29381800-29388400	Weak transcription	Placenta	Placenta
50	chr22:29381800-29388400	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links