Variant report

Variant	rs12065470
Chromosome Location	chr1:180517454-180517455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180516263..180518210-chr1:180520202..180523252,4	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10913989	1.00[AMR][1000 genomes]
rs10913993	1.00[AMR][1000 genomes]
rs10913997	1.00[AMR][1000 genomes]
rs10914015	1.00[AMR][1000 genomes]
rs10914025	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10914026	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10914039	1.00[AMR][1000 genomes]
rs12060882	1.00[AMR][1000 genomes]
rs12065345	1.00[AMR][1000 genomes]
rs12068605	1.00[AMR][1000 genomes]
rs12076376	1.00[AMR][1000 genomes]
rs12078865	1.00[AMR][1000 genomes]
rs12080367	1.00[AMR][1000 genomes]
rs12080976	1.00[AMR][1000 genomes]
rs12091034	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095564	1.00[AMR][1000 genomes]
rs12096761	1.00[AMR][1000 genomes]
rs12098212	1.00[AMR][1000 genomes]
rs12354363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856167	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051243	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180510400-180529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:180511800-180521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:180512200-180521200	Weak transcription	HSMMtube	muscle
4	chr1:180512400-180517800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:180512800-180517600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:180513000-180518000	Weak transcription	Fetal Brain Male	brain
7	chr1:180513600-180521200	Weak transcription	Right Ventricle	heart
8	chr1:180515000-180518600	Enhancers	Fetal Heart	heart
9	chr1:180515400-180517600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:180516200-180518400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:180516200-180519000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:180516200-180519400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:180516400-180520600	Weak transcription	Left Ventricle	heart
14	chr1:180516400-180521200	Weak transcription	Right Atrium	heart
15	chr1:180516600-180536800	Weak transcription	Psoas Muscle	Psoas
16	chr1:180517200-180517600	Weak transcription	Brain Germinal Matrix	brain
17	chr1:180517200-180519400	Enhancers	Fetal Brain Female	brain
18	chr1:180517400-180518600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:180517400-180519200	Enhancers	Cortex derived primary cultured neurospheres	brain

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