Variant report

Variant	rs157973
Chromosome Location	chr12:41952795-41952796
allele	A/G
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:3)

rs_ID	r²[population]
rs285562	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs285577	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285578	0.82[LWK][hapmap];0.87[MKK][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	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:41942800-41956800	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41944600-41966200	Weak transcription	Ovary	ovary
3	chr12:41945400-41956800	Weak transcription	Aorta	Aorta
4	chr12:41947200-41953000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:41948600-41959800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:41952200-41953200	Enhancers	Fetal Lung	lung
7	chr12:41952400-41957000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:41952600-41952800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:41952600-41953400	Enhancers	HUES48 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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