Variant report

Variant	rs12699013
Chromosome Location	chr7:70793387-70793388
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10224696	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10240080	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10252095	0.82[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10281560	0.97[EUR][1000 genomes]
rs12532676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12540683	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12699007	0.82[AMR][1000 genomes]
rs12699008	0.82[AMR][1000 genomes]
rs12699011	0.91[AMR][1000 genomes]
rs12699012	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12699032	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17143419	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2707422	0.93[EUR][1000 genomes]
rs34702051	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35182494	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56340632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62462185	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62462209	0.92[EUR][1000 genomes]
rs71549400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7803373	1.00[CEU][hapmap];0.97[EUR][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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70784000-70808200	Weak transcription	Aorta	Aorta
2	chr7:70787800-70795400	Weak transcription	Ovary	ovary
3	chr7:70790000-70794800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:70790200-70794600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:70790800-70793400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:70790800-70793600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:70790800-70793600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:70790800-70794200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:70790800-70794200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:70790800-70795800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:70790800-70799200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:70790800-70804800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:70791000-70794600	Enhancers	Fetal Heart	heart
14	chr7:70792000-70794000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:70792200-70793600	Enhancers	Left Ventricle	heart
16	chr7:70792200-70794200	Weak transcription	HSMM	muscle
17	chr7:70792800-70793600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:70792800-70793800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:70793000-70794400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:70793000-70794600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:70793000-70794600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:70793200-70793400	Enhancers	Fetal Lung	lung
23	chr7:70793200-70793600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr7:70793200-70794200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr7:70793200-70794800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:70793200-70794800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:70793200-70795000	Enhancers	Fetal Muscle Leg	muscle

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