Variant report

Variant	rs34248909
Chromosome Location	chr12:119528580-119528581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11064657	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064659	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064661	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064664	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12810405	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810762	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826537	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34397945	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35837876	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4283045	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4283046	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs66968675	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964729	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7978607	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119521000-119535600	Weak transcription	Fetal Brain Female	brain
2	chr12:119521200-119537400	Weak transcription	Brain Germinal Matrix	brain
3	chr12:119525000-119529000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:119525800-119528600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:119525800-119528800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:119526000-119529600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr12:119526400-119528800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:119526400-119530400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:119526600-119528800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:119526600-119529400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:119527000-119528600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:119527000-119528800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr12:119527200-119529000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:119527200-119529000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:119527400-119529000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:119527800-119529000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:119527800-119529800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:119528000-119530000	Enhancers	Fetal Heart	heart
19	chr12:119528200-119528600	Enhancers	Right Atrium	heart
20	chr12:119528200-119528600	Enhancers	HSMMtube	muscle
21	chr12:119528200-119529000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:119528400-119529000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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