Variant report

Variant	rs10221512
Chromosome Location	chr19:44962865-44962866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2020083	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs204530	0.81[CEU][hapmap]
rs2293164	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs2571053	0.81[CEU][hapmap]
rs2571056	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2571108	0.87[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2686779	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4141695	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs45562836	0.83[ASN][1000 genomes]
rs566838	0.83[ASN][1000 genomes]
rs612890	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv579858	chr19:44955927-44962865	ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1814695	chr19:44955927-44963056	ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv524201	chr19:44955927-44978183	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv525472	chr19:44955927-44978183	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv16834	chr19:44957502-44964253	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
9	nsv912115	chr19:44957508-44995990	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	esv7164	chr19:44957517-44963854	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
11	esv3319150	chr19:44957559-44963817	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
12	esv3319152	chr19:44957777-44963902	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv1809209	chr19:44957908-44963056	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
14	esv3401656	chr19:44958072-44963810	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
15	esv1805233	chr19:44958384-44962865	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
16	nsv579860	chr19:44958384-44962865	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv960853	chr19:44958445-44982821	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10221512	ZNF180	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44961000-44963200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:44961000-44964400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:44961600-44963200	Weak transcription	K562	blood

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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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