Variant report

Variant	rs6005510
Chromosome Location	chr22:27949824-27949825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12159947	0.93[AFR][1000 genomes]
rs4822906	0.96[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27941800-27950200	Weak transcription	Fetal Brain Female	brain
2	chr22:27944200-27950200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:27944800-27950200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:27945000-27953200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:27947000-27952800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:27948600-27950200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:27948800-27950200	Weak transcription	Fetal Brain Male	brain
8	chr22:27949200-27950200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:27949400-27950200	Weak transcription	Fetal Muscle Leg	muscle
10	chr22:27949400-27950400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:27949600-27950600	Enhancers	Brain Germinal Matrix	brain
12	chr22:27949600-27951000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:27949600-27951200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:27949600-27953800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:27949800-27950200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr22:27949800-27951000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr22:27949800-27951000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:27949800-27951000	Enhancers	Fetal Intestine Small	intestine
19	chr22:27949800-27951200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:27949800-27951200	Enhancers	Fetal Stomach	stomach

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