Variant report

Variant	rs16990872
Chromosome Location	chr22:33031393-33031394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:33030812-33041554..22:33452523-33459358	GM12878	blood:
2	22:31961151-31976153..22:33030812-33041554	K562	blood:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16990849	1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16990857	0.93[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2858223	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs3827336	0.88[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5754173	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58208983	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58228617	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58291507	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58410126	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67485432	0.80[ASN][1000 genomes]
rs73154363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154365	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154374	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8135117	0.86[JPT][hapmap]
rs9609603	0.86[JPT][hapmap]
rs9609608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9619283	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs9621513	0.87[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs9621515	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs988670	0.86[JPT][hapmap]

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	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv459875	chr22:33025180-33097662	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv588896	chr22:33025180-33097662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33025400-33033200	Weak transcription	Fetal Kidney	kidney
2	chr22:33028800-33032400	Weak transcription	HepG2	liver
3	chr22:33029000-33032600	Weak transcription	Fetal Muscle Leg	muscle
4	chr22:33029000-33032600	Weak transcription	Placenta	Placenta
5	chr22:33029000-33039200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr22:33029200-33032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr22:33029200-33036000	Weak transcription	Fetal Stomach	stomach
8	chr22:33029400-33032400	Weak transcription	Fetal Thymus	thymus
9	chr22:33030800-33033400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr22:33031000-33040000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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