Variant report

Variant	rs11912717
Chromosome Location	chr22:29069376-29069377
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	chr22:29068475..29070803-chr22:29136306..29139155,2	K562	blood:
2	chr22:29068301..29072007-chr22:29167336..29171119,3	K562	blood:

Variant related genes	Relation type
ENSG00000159873	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000183765	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11912125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13053405	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13054496	0.85[EUR][1000 genomes]
rs13055501	0.85[EUR][1000 genomes]
rs13055576	0.87[EUR][1000 genomes]
rs13055649	0.94[EUR][1000 genomes]
rs13056776	0.94[EUR][1000 genomes]
rs34188840	0.94[EUR][1000 genomes]
rs34277219	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34285557	0.81[EUR][1000 genomes]
rs34780660	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34843903	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34928826	0.87[EUR][1000 genomes]
rs34929472	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34970554	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34994167	0.85[EUR][1000 genomes]
rs35230579	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35286648	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35507981	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36100499	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57062250	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58433661	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71316850	0.97[EUR][1000 genomes]
rs71325299	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71327305	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7286202	0.85[EUR][1000 genomes]
rs8136113	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:29 , 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	chr22:29057600-29070200	Weak transcription	Fetal Stomach	stomach
5	chr22:29058000-29070200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:29064600-29074800	Weak transcription	Left Ventricle	heart
7	chr22:29064800-29069800	Weak transcription	HUVEC	blood vessel
8	chr22:29067000-29069400	Weak transcription	NHDF-Ad	bronchial
9	chr22:29067000-29069800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr22:29067000-29074400	Weak transcription	Fetal Lung	lung
11	chr22:29067200-29073800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:29067200-29074400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:29067400-29069600	Weak transcription	Fetal Muscle Leg	muscle
14	chr22:29067600-29074400	Weak transcription	Fetal Brain Female	brain
15	chr22:29067800-29074400	Weak transcription	HepG2	liver
16	chr22:29068600-29069600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:29068600-29069800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:29068600-29069800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
19	chr22:29068800-29069400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr22:29068800-29069800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
21	chr22:29068800-29069800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:29068800-29070800	Bivalent Enhancer	Dnd41	blood
23	chr22:29068800-29071400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
24	chr22:29068800-29071400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
25	chr22:29068800-29071400	Enhancers	GM12878-XiMat	blood
26	chr22:29069000-29069400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr22:29069000-29069600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr22:29069200-29069400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:29069200-29071000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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