Variant report

Variant	rs16985031
Chromosome Location	chr22:27950369-27950370
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12159947	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273202	1.00[AFR][1000 genomes]
rs4820767	1.00[AFR][1000 genomes]
rs4822905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4822906	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4822910	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4822911	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4822913	1.00[AFR][1000 genomes]
rs4822915	1.00[AFR][1000 genomes]
rs4822916	1.00[AFR][1000 genomes]
rs4822920	1.00[AFR][1000 genomes]
rs55924866	1.00[AFR][1000 genomes]
rs5762258	1.00[AFR][1000 genomes]
rs5762260	1.00[AFR][1000 genomes]
rs723183	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs73160595	1.00[AFR][1000 genomes]
rs73162308	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv588877	chr22:27930080-28094845	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27945000-27953200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr22:27947000-27952800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:27949400-27950400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:27949600-27950600	Enhancers	Brain Germinal Matrix	brain
5	chr22:27949600-27951000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr22:27949600-27951200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:27949600-27953800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:27949800-27951000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr22:27949800-27951000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:27949800-27951000	Enhancers	Fetal Intestine Small	intestine
11	chr22:27949800-27951200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:27949800-27951200	Enhancers	Fetal Stomach	stomach
13	chr22:27950000-27951000	Enhancers	Fetal Intestine Large	intestine
14	chr22:27950000-27951200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr22:27950000-27951200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:27950200-27950400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:27950200-27950400	Enhancers	Fetal Brain Female	brain
18	chr22:27950200-27950400	Enhancers	Fetal Muscle Leg	muscle
19	chr22:27950200-27950600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:27950200-27950600	Enhancers	Brain Angular Gyrus	brain
21	chr22:27950200-27950800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:27950200-27950800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:27950200-27951000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:27950200-27951000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr22:27950200-27951000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:27950200-27951000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr22:27950200-27951000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:27950200-27951000	Enhancers	Adipose Nuclei	Adipose
29	chr22:27950200-27951000	Enhancers	Fetal Lung	lung
30	chr22:27950200-27951000	Enhancers	Fetal Muscle Trunk	muscle
31	chr22:27950200-27951000	Enhancers	Ovary	ovary
32	chr22:27950200-27951000	Enhancers	NH-A	brain
33	chr22:27950200-27951000	Enhancers	NHEK	skin
34	chr22:27950200-27951200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:27950200-27951200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr22:27950200-27951200	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links