Variant report

Variant	rs7286816
Chromosome Location	chr22:29071729-29071730
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	chr22:29071306..29073725-chr22:29073922..29075807,2	K562	blood:
2	chr22:29068301..29072007-chr22:29167336..29171119,3	K562	blood:

Variant related genes	Relation type
ENSG00000100154	Chromatin interaction
ENSG00000159873	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10084639	0.84[AMR][1000 genomes]
rs10222265	1.00[ASN][1000 genomes]
rs10222318	0.89[AMR][1000 genomes]
rs12165715	0.81[AMR][1000 genomes]
rs12165893	0.89[AMR][1000 genomes]
rs12166716	1.00[ASN][1000 genomes]
rs12167434	0.89[AMR][1000 genomes]
rs12167614	0.89[AMR][1000 genomes]
rs12167667	0.88[AMR][1000 genomes]
rs12168031	0.92[AMR][1000 genomes]
rs12168765	0.89[AMR][1000 genomes]
rs12169071	0.80[AMR][1000 genomes]
rs12169120	0.81[AMR][1000 genomes]
rs12169460	0.89[AMR][1000 genomes]
rs12169880	0.89[AMR][1000 genomes]
rs28818228	0.89[AMR][1000 genomes]
rs58049055	0.89[AMR][1000 genomes]
rs59060951	1.00[ASN][1000 genomes]
rs59974795	1.00[ASN][1000 genomes]
rs60116790	1.00[ASN][1000 genomes]
rs60248971	0.89[AMR][1000 genomes]
rs60693420	0.89[AMR][1000 genomes]
rs6519758	0.89[AMR][1000 genomes]
rs7288792	0.89[AMR][1000 genomes]
rs7289534	0.89[AMR][1000 genomes]
rs7293232	0.89[AMR][1000 genomes]
rs73388803	1.00[ASN][1000 genomes]
rs73388808	1.00[ASN][1000 genomes]
rs73430189	0.81[AMR][1000 genomes]
rs73432205	0.89[AMR][1000 genomes]
rs8136767	0.89[AMR][1000 genomes]
rs8136995	0.89[AMR][1000 genomes]
rs8142681	0.89[AMR][1000 genomes]
rs9620809	0.88[AMR][1000 genomes]
rs9620810	0.89[AMR][1000 genomes]
rs9620811	0.89[AMR][1000 genomes]
rs9620826	1.00[ASN][1000 genomes]
rs9620828	1.00[ASN][1000 genomes]
rs9625512	0.87[AMR][1000 genomes]
rs9625513	0.87[AMR][1000 genomes]
rs9625514	0.89[AMR][1000 genomes]
rs9625515	0.88[AMR][1000 genomes]
rs9625516	0.88[AMR][1000 genomes]
rs9625518	0.80[AMR][1000 genomes]
rs9625520	0.89[AMR][1000 genomes]
rs9625521	0.89[AMR][1000 genomes]
rs9625522	0.89[AMR][1000 genomes]
rs9625523	0.89[AMR][1000 genomes]
rs9625524	0.89[AMR][1000 genomes]
rs9625548	1.00[ASN][1000 genomes]
rs9625554	1.00[ASN][1000 genomes]
rs9625568	1.00[ASN][1000 genomes]
rs9625572	1.00[ASN][1000 genomes]
rs9625586	1.00[ASN][1000 genomes]
rs9625602	1.00[ASN][1000 genomes]
rs9625603	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv459867	chr22:28993183-29109036	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv588881	chr22:28993183-29109036	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1061684	chr22:29026341-29088590	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1064624	chr22:29065528-29130728	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
8	esv17527	chr22:29066121-29102976	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv966098	chr22:29069640-29088208	Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv966097	chr22:29069640-29092062	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29046400-29073800	Weak transcription	Ovary	ovary
2	chr22:29052600-29074600	Weak transcription	Colon Smooth Muscle	Colon
3	chr22:29056800-29074600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:29064600-29074800	Weak transcription	Left Ventricle	heart
5	chr22:29067000-29074400	Weak transcription	Fetal Lung	lung
6	chr22:29067200-29073800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:29067200-29074400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:29067600-29074400	Weak transcription	Fetal Brain Female	brain
9	chr22:29067800-29074400	Weak transcription	HepG2	liver
10	chr22:29069800-29072600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:29070600-29071800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
12	chr22:29070600-29072400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr22:29070600-29074400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:29070600-29074400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:29070600-29074400	Weak transcription	HUVEC	blood vessel
16	chr22:29070600-29074600	Weak transcription	K562	blood
17	chr22:29070600-29074600	Weak transcription	NHLF	lung
18	chr22:29070600-29074600	Weak transcription	Osteobl	bone
19	chr22:29071200-29071800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr22:29071400-29071800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:29071400-29071800	Enhancers	Spleen	Spleen
22	chr22:29071400-29074400	Weak transcription	NHDF-Ad	bronchial
23	chr22:29071400-29074800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:29071600-29071800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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