Variant report

Variant	rs17123011
Chromosome Location	chr12:48835835-48835836
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11168550	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11168584	0.91[AMR][1000 genomes]
rs11168601	0.88[AMR][1000 genomes]
rs11608260	0.91[AMR][1000 genomes]
rs11612896	0.84[YRI][hapmap];0.91[AMR][1000 genomes]
rs11829869	0.84[YRI][hapmap];0.91[AMR][1000 genomes]
rs11830068	0.86[AMR][1000 genomes]
rs11830262	0.91[AMR][1000 genomes]
rs11832205	0.86[AMR][1000 genomes]
rs11832311	0.84[YRI][hapmap];0.91[AMR][1000 genomes]
rs11833650	0.91[AMR][1000 genomes]
rs11834790	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11834979	0.91[AMR][1000 genomes]
rs11836243	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11836257	0.91[AMR][1000 genomes]
rs11837374	0.91[AMR][1000 genomes]
rs12424940	0.91[AMR][1000 genomes]
rs17123105	0.84[YRI][hapmap];0.91[AMR][1000 genomes]
rs17123106	0.91[AMR][1000 genomes]
rs17123108	0.91[AMR][1000 genomes]
rs2068293	0.80[YRI][hapmap];0.91[AMR][1000 genomes]
rs2731098	0.86[AMR][1000 genomes]
rs34400124	0.91[AMR][1000 genomes]
rs4146339	0.94[AMR][1000 genomes]
rs4146340	0.82[AMR][1000 genomes]
rs4237857	0.87[YRI][hapmap]
rs4265629	0.80[YRI][hapmap];0.91[AMR][1000 genomes]
rs4331150	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4332560	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4344535	0.91[AMR][1000 genomes]
rs4500527	0.86[YRI][hapmap];0.91[AMR][1000 genomes]
rs4519134	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4592463	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4620769	0.91[AMR][1000 genomes]
rs4760702	1.00[CEU][hapmap]
rs4760712	0.87[YRI][hapmap]
rs56796388	0.91[AMR][1000 genomes]
rs59872392	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60346212	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72644850	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72644851	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72644852	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72644853	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72644858	0.91[AMR][1000 genomes]
rs72644859	0.91[AMR][1000 genomes]
rs72644862	0.91[AMR][1000 genomes]
rs72644863	0.91[AMR][1000 genomes]
rs72644864	0.91[AMR][1000 genomes]
rs72644865	0.88[AMR][1000 genomes]
rs7956679	0.87[YRI][hapmap]
rs7966826	0.84[YRI][hapmap]
rs7973559	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48833800-48840400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:48834200-48840400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:48834200-48840400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:48834600-48837800	Enhancers	Hela-S3	cervix
5	chr12:48834800-48836400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:48835000-48836000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:48835000-48836000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:48835000-48836600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:48835000-48836600	Enhancers	Spleen	Spleen
10	chr12:48835400-48838600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:48835600-48836800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:48835800-48837200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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