Variant report

Variant	rs11848580
Chromosome Location	chr14:79968788-79968789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10130663	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10138831	0.89[JPT][hapmap]
rs10144362	0.90[EUR][1000 genomes]
rs10150805	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1080129	0.91[EUR][1000 genomes]
rs11845632	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs11848640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849345	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11850075	0.84[EUR][1000 genomes]
rs11850956	0.90[EUR][1000 genomes]
rs12891144	0.90[JPT][hapmap]
rs12894675	0.90[JPT][hapmap]
rs17109313	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17763953	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs2043585	0.84[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2217889	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs35879888	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243664	0.90[JPT][hapmap]
rs4566079	0.82[CEU][hapmap]
rs4903860	0.90[JPT][hapmap]
rs56111431	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61504574	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61995170	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61995179	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61995180	0.93[EUR][1000 genomes]
rs7150181	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7151972	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8005235	0.81[CEU][hapmap]
rs8017761	0.82[CEU][hapmap]
rs8020593	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8021408	0.85[CEU][hapmap]
rs9323673	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][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	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv521160	chr14:79963569-79971835	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1811223	chr14:79967761-79981954	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79966000-79976400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:79967600-79968800	Weak transcription	Brain Germinal Matrix	brain
3	chr14:79967800-79969400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr14:79968400-79968800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:79968400-79969200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:79968400-79969200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:79968400-79969200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:79968400-79969200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:79968400-79969200	Enhancers	Fetal Lung	lung
10	chr14:79968400-79969400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:79968400-79969400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:79968600-79968800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:79968600-79969400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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