Variant report

Variant	rs11847221
Chromosome Location	chr14:70327417-70327418
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17107367	0.97[ASN][1000 genomes]
rs17558139	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1887146	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1887147	0.91[ASN][1000 genomes]
rs1887148	0.91[ASN][1000 genomes]
rs1952199	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1952200	0.93[ASN][1000 genomes]
rs1958077	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2332175	0.81[CHB][hapmap]
rs4902760	0.83[CHB][hapmap]
rs55749604	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56222421	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56403048	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66954838	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7147790	0.93[ASN][1000 genomes]
rs7155074	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156472	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs749397	1.00[JPT][hapmap];0.89[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70325600-70327600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
2	chr14:70325800-70327800	Enhancers	Brain Germinal Matrix	brain
3	chr14:70326000-70327800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
4	chr14:70326200-70327600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:70326400-70327800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:70326400-70327800	Bivalent Enhancer	HepG2	liver
7	chr14:70326400-70328800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:70326600-70328000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:70327000-70328400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr14:70327000-70328400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:70327200-70328200	Enhancers	Placenta	Placenta
12	chr14:70327200-70328200	Enhancers	Fetal Stomach	stomach
13	chr14:70327400-70327600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr14:70327400-70327600	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr14:70327400-70328400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr14:70327400-70328400	Enhancers	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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