Variant report

Variant	rs6005462
Chromosome Location	chr22:27877217-27877218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10427806	1.00[EUR][1000 genomes]
rs12159414	1.00[EUR][1000 genomes]
rs12165696	1.00[EUR][1000 genomes]
rs137145	1.00[EUR][1000 genomes]
rs16984497	1.00[EUR][1000 genomes]
rs16984534	1.00[EUR][1000 genomes]
rs16984627	1.00[EUR][1000 genomes]
rs16984638	1.00[EUR][1000 genomes]
rs2008329	1.00[EUR][1000 genomes]
rs2065061	1.00[EUR][1000 genomes]
rs5752574	1.00[EUR][1000 genomes]
rs5762216	1.00[EUR][1000 genomes]
rs5762219	1.00[EUR][1000 genomes]
rs5762223	1.00[EUR][1000 genomes]
rs5997259	1.00[EUR][1000 genomes]
rs6005466	1.00[EUR][1000 genomes]
rs6005472	1.00[EUR][1000 genomes]
rs6005473	1.00[EUR][1000 genomes]
rs6005474	1.00[EUR][1000 genomes]
rs6005475	1.00[EUR][1000 genomes]
rs6005478	1.00[EUR][1000 genomes]
rs60298679	1.00[EUR][1000 genomes]
rs73417186	1.00[EUR][1000 genomes]
rs738564	1.00[EUR][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	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27870600-27878200	Weak transcription	Fetal Brain Male	brain
2	chr22:27871600-27878400	Weak transcription	Fetal Lung	lung
3	chr22:27871800-27884600	Weak transcription	Right Atrium	heart
4	chr22:27873000-27878400	Weak transcription	Fetal Thymus	thymus
5	chr22:27873000-27884600	Weak transcription	Gastric	stomach
6	chr22:27875000-27878600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:27875000-27881600	Weak transcription	NHEK	skin
8	chr22:27875200-27878000	Enhancers	Fetal Intestine Small	intestine
9	chr22:27875200-27880000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:27875600-27877400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr22:27875800-27877400	Enhancers	Brain Hippocampus Middle	brain
12	chr22:27875800-27877400	Enhancers	HepG2	liver
13	chr22:27875800-27877600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr22:27875800-27877600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:27875800-27878000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:27875800-27878000	Enhancers	Brain Substantia Nigra	brain
17	chr22:27875800-27879000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:27876000-27877400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr22:27876000-27877400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:27876000-27877400	Enhancers	Brain Cingulate Gyrus	brain
21	chr22:27876000-27877400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:27876000-27878000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr22:27876200-27877400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:27876200-27877600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:27876200-27877800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr22:27876200-27877800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr22:27876200-27877800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:27876200-27879200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr22:27876200-27879800	Enhancers	Brain Germinal Matrix	brain
30	chr22:27876400-27877400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr22:27876400-27877400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr22:27876400-27878000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:27876400-27880000	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr22:27876600-27883800	Weak transcription	Pancreas	Pancrea
35	chr22:27876800-27877800	Enhancers	Brain Angular Gyrus	brain
36	chr22:27876800-27882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:27876800-27884800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr22:27877000-27879600	Enhancers	Fetal Stomach	stomach
39	chr22:27877000-27884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr22:27877200-27877400	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links