Variant report

Variant	rs1250153
Chromosome Location	chr12:63336775-63336776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1146098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1249934	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1666912	1.00[MEX][hapmap]
rs1695022	0.91[LWK][hapmap];0.83[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699590	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63329600-63338600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:63335200-63336800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:63335400-63336800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:63335400-63337000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:63335400-63338600	Weak transcription	Brain Substantia Nigra	brain
6	chr12:63336000-63336800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:63336200-63337000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:63336200-63337400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:63336200-63337600	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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