Variant report

Variant	rs9621513
Chromosome Location	chr22:33032781-33032782
allele	A/G
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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs13340090	0.80[AFR][1000 genomes]
rs1547413	0.88[CHB][hapmap]
rs16990857	0.81[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs16990872	0.87[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs2051569	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs2157168	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs2858223	0.86[JPT][hapmap]
rs3827336	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs58228617	0.83[ASN][1000 genomes]
rs58291507	0.83[ASN][1000 genomes]
rs58410126	0.83[ASN][1000 genomes]
rs67485432	1.00[ASN][1000 genomes]
rs73154363	0.80[ASN][1000 genomes]
rs73154365	0.80[ASN][1000 genomes]
rs73154374	0.80[ASN][1000 genomes]
rs738994	0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs8135117	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8136042	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8137407	0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs8139704	0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs8139932	0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs9609603	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs9609608	0.86[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs9619281	0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs9619283	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs9621508	0.81[JPT][hapmap]
rs9621514	0.84[YRI][hapmap]
rs9621515	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9621516	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs988670	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.80[ASN][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	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33025400-33033200	Weak transcription	Fetal Kidney	kidney
2	chr22:33029000-33039200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr22:33029200-33036000	Weak transcription	Fetal Stomach	stomach
4	chr22:33030800-33033400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:33031000-33040000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:33032000-33033200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr22:33032400-33033400	Enhancers	HepG2	liver
8	chr22:33032400-33033600	Enhancers	Fetal Thymus	thymus
9	chr22:33032600-33033200	Enhancers	Placenta	Placenta
10	chr22:33032600-33033400	Enhancers	Fetal Muscle Leg	muscle
11	chr22:33032600-33033600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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