Variant report

Variant	rs2698074
Chromosome Location	chr12:119315608-119315609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2222640	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2698058	0.84[ASN][1000 genomes]
rs2698076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2698079	0.92[EUR][1000 genomes]
rs2730435	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2730441	0.86[ASN][1000 genomes]
rs4766920	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119313000-119315800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:119313600-119316000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr12:119313800-119316200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:119314600-119318400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:119314800-119315800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:119314800-119315800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:119314800-119318200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:119314800-119318400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:119314800-119318400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:119314800-119318600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:119315000-119318400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:119315400-119316000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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