Variant report

Variant	rs1185693
Chromosome Location	chr1:190350436-190350437
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1143860	0.81[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap]
rs1148609	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs1148612	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs1148614	0.85[AFR][1000 genomes]
rs1171040	0.87[CEU][hapmap]
rs1171042	0.81[CEU][hapmap]
rs1171044	0.87[CEU][hapmap]
rs1171045	0.87[CEU][hapmap];0.90[CHB][hapmap]
rs1171046	0.87[CEU][hapmap];0.90[CHB][hapmap]
rs1182981	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs1782561	0.90[CHB][hapmap];0.84[JPT][hapmap]

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	nsv548532	chr1:189758772-190371671	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv932040	chr1:190005334-190914580	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv430013	chr1:190288297-190351677	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190350000-190350600	Enhancers	Fetal Intestine Large	intestine
2	chr1:190350000-190350600	Active TSS	A549	lung
3	chr1:190350200-190350600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:190350200-190350600	Active TSS	Brain Germinal Matrix	brain
5	chr1:190350200-190351200	Active TSS	Brain Anterior Caudate	brain
6	chr1:190350400-190352600	Enhancers	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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