Variant report

Variant	rs7313719
Chromosome Location	chr12:12157880-12157881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10743972	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10772521	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10772523	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10845441	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10845442	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10845443	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10845444	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11054584	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11054589	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12367002	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3983830	0.91[CEU][hapmap];0.88[CHB][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4375516	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7315674	0.91[CEU][hapmap];0.88[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7971902	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7972254	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12146800-12161600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:12152200-12160200	Weak transcription	Fetal Thymus	thymus
3	chr12:12152400-12160000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:12153000-12160000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:12153200-12159400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:12153200-12160000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:12153200-12160000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:12154600-12163200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:12155800-12159400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:12155800-12159400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:12155800-12159400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:12156000-12159800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:12157400-12158400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:12157800-12160400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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