Variant report

Variant	rs12240182
Chromosome Location	chr1:180664845-180664846
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10914067	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10914109	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11487340	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060106	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063811	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073959	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075181	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075718	1.00[EUR][1000 genomes]
rs12079057	1.00[EUR][1000 genomes]
rs12080368	0.84[AFR][1000 genomes]
rs12084966	0.87[EUR][1000 genomes]
rs12238979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374649	1.00[EUR][1000 genomes]
rs28556586	1.00[EUR][1000 genomes]
rs6671675	1.00[EUR][1000 genomes]
rs6692545	1.00[EUR][1000 genomes]
rs6700702	1.00[EUR][1000 genomes]
rs73036505	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036508	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036535	0.82[AFR][1000 genomes]
rs73047686	1.00[EUR][1000 genomes]
rs73047695	1.00[EUR][1000 genomes]
rs73049484	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049487	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73051218	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73051239	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7553766	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7556291	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv2754432	chr1:180645343-180692343	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180633200-180672000	Weak transcription	K562	blood
2	chr1:180649000-180666200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:180650200-180665600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:180650200-180669800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:180652000-180672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:180661400-180665400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:180663400-180665600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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