Variant report

Variant	rs7606965
Chromosome Location	chr2:127264952-127264953
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10194561	0.94[ASN][1000 genomes]
rs10203788	0.94[ASN][1000 genomes]
rs13382980	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13386710	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13413216	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13415629	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13419397	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13425595	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1440050	0.86[EUR][1000 genomes]
rs56896312	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6431080	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6431081	0.95[EUR][1000 genomes]
rs6431097	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6727953	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6753696	0.94[ASN][1000 genomes]
rs7590145	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7591893	0.92[EUR][1000 genomes]
rs7598155	1.00[ASN][1000 genomes]
rs7599320	0.97[EUR][1000 genomes]
rs7599552	0.95[EUR][1000 genomes]
rs7604896	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001995	chr2:126506739-127314488	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv834364	chr2:127100752-127267070	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127263200-127265400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:127263800-127265400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:127264000-127265400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:127264000-127265400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:127264000-127265400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:127264200-127265600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:127264400-127265200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:127264400-127265200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:127264400-127265400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:127264400-127265400	Enhancers	HepG2	liver
11	chr2:127264400-127265800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:127264600-127265200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:127264600-127265200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:127264600-127265200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:127264600-127265200	Enhancers	Lung	lung
16	chr2:127264600-127265400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:127264600-127265400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:127264600-127265400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:127264600-127265400	Enhancers	Brain Angular Gyrus	brain
20	chr2:127264600-127265400	Enhancers	Brain Hippocampus Middle	brain
21	chr2:127264600-127265400	Enhancers	K562	blood
22	chr2:127264600-127265800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:127264800-127265400	Enhancers	Brain Substantia Nigra	brain

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