Variant report

Variant	rs12327977
Chromosome Location	chr2:205729295-205729296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10189739	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201810	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10210279	0.88[AFR][1000 genomes]
rs12328364	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12328369	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12617432	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12620769	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13388261	0.81[AFR][1000 genomes]
rs13393061	0.80[AFR][1000 genomes]
rs13408553	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13422729	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs16836712	0.91[ASN][1000 genomes]
rs57351682	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58798518	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6725702	0.83[AFR][1000 genomes]
rs6726748	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6755344	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73068611	0.81[AFR][1000 genomes]
rs7605954	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205725200-205730000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:205725200-205734600	Weak transcription	Pancreas	Pancrea
3	chr2:205725400-205733600	Weak transcription	Fetal Lung	lung
4	chr2:205725400-205734400	Weak transcription	Adipose Nuclei	Adipose
5	chr2:205725800-205733400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:205727800-205729400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:205728400-205729600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:205728400-205733600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:205728600-205729400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:205728600-205729600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:205728800-205729400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:205728800-205729600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:205729000-205729400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:205729000-205732400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:205729000-205732600	Weak transcription	Ovary	ovary
16	chr2:205729000-205733400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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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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