Variant report

Variant	rs8048213
Chromosome Location	chr16:34197818-34197819
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11862818	1.00[EUR][1000 genomes]
rs11865825	0.89[AMR][1000 genomes]
rs11865879	1.00[EUR][1000 genomes]
rs17841531	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap]
rs35420434	1.00[CHB][hapmap]
rs58907415	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59998423	1.00[EUR][1000 genomes]
rs6563884	1.00[ASW][hapmap];0.87[LWK][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7189838	1.00[EUR][1000 genomes]
rs7192991	1.00[EUR][1000 genomes]
rs7203565	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8052662	1.00[EUR][1000 genomes]
rs8054102	1.00[EUR][1000 genomes]
rs8056332	1.00[EUR][1000 genomes]
rs8062364	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823144	chr16:33673394-34211708	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv32538	chr16:33935506-34459464	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv431453	chr16:33940200-34760967	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
4	nsv542904	chr16:33942289-34427860	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	esv3336957	chr16:33946491-34387916	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	esv3323409	chr16:34173451-34198149	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3342455	chr16:34173751-34198149	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3337083	chr16:34175451-34198649	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3381305	chr16:34175551-34198049	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3409991	chr16:34175551-34198049	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3350528	chr16:34175751-34198149	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv906654	chr16:34176875-34320353	ZNF genes & repeats Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv906655	chr16:34176875-34597156	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
14	nsv1061110	chr16:34197339-34304555	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1066136	chr16:34197339-34434323	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv1064842	chr16:34197339-34472275	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv1063819	chr16:34197339-34492332	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
18	nsv1056658	chr16:34197339-34682514	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34180400-34198000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr16:34180400-34199800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:34197000-34198200	Weak transcription	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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