Variant report

Variant	rs74158952
Chromosome Location	chr1:210804319-210804320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11119554	1.00[ASN][1000 genomes]
rs12060806	1.00[ASN][1000 genomes]
rs12090004	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12092803	1.00[ASN][1000 genomes]
rs12724530	0.89[AFR][1000 genomes]
rs12745898	1.00[ASN][1000 genomes]
rs61557416	1.00[ASN][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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv522480	chr1:210779936-210848344	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
3	esv1825229	chr1:210789477-210854976	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210790600-210807000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210795400-210822600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:210795800-210806600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:210798600-210806200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:210799000-210804600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:210799000-210804600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:210799200-210805000	Weak transcription	Brain Anterior Caudate	brain
8	chr1:210799200-210807000	Weak transcription	HSMM	muscle
9	chr1:210801000-210806600	Weak transcription	Right Atrium	heart
10	chr1:210801600-210823000	Weak transcription	Aorta	Aorta
11	chr1:210802000-210804400	Weak transcription	Right Ventricle	heart
12	chr1:210802000-210804600	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:210802000-210804600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:210802000-210815000	Weak transcription	Pancreas	Pancrea
15	chr1:210802800-210804400	Weak transcription	Brain Substantia Nigra	brain
16	chr1:210803800-210804600	Strong transcription	HSMMtube	muscle
17	chr1:210804200-210804800	Weak transcription	Left Ventricle	heart

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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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