Variant report

Variant	rs12056133
Chromosome Location	chr7:121577556-121577557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1196498	0.83[ASN][1000 genomes]
rs1196500	0.83[ASN][1000 genomes]
rs12055989	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1211982	0.83[ASN][1000 genomes]
rs17143947	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1860721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3757544	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9641680	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121571600-121597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:121571800-121578400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:121571800-121601200	Weak transcription	Esophagus	oesophagus
4	chr7:121574000-121582400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:121574200-121581200	Weak transcription	Brain Germinal Matrix	brain
6	chr7:121575000-121579000	Weak transcription	NHEK	skin
7	chr7:121575600-121578800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:121575600-121581000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:121575800-121578200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:121575800-121578200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:121576000-121577600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:121576000-121577600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:121576200-121579800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:121576400-121577800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:121576400-121578000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr7:121576600-121577800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:121576600-121578000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:121576600-121578800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:121576600-121582800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:121576800-121577800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:121577000-121582400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:121577200-121577800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:121577200-121578200	Weak transcription	Fetal Brain Female	brain
24	chr7:121577200-121578400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:121577400-121577600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:121577400-121577600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:121577400-121577800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:121577400-121577800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:121577400-121577800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:121577400-121578400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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