Variant report

Variant	rs73881484
Chromosome Location	chr22:30985646-30985647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30985528-30985790	HepG2	liver:	n/a	n/a
2	POLR2A	chr22:30985461-30985653	K562	blood:	n/a	n/a
3	POLR2A	chr22:30985206-30985661	GM12892	blood:	n/a	n/a
4	POLR2A	chr22:30985477-30988298	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30968228..30973884-chr22:30985019..30988219,5	MCF-7	breast:
2	chr22:30984038..30987720-chr22:30992982..30995616,3	K562	blood:
3	chr22:30898269..30900043-chr22:30984977..30987505,2	K562	blood:
4	chr22:30969461..30973158-chr22:30985013..30988022,5	MCF-7	breast:
5	chr22:30970968..30972609-chr22:30985302..30987086,2	K562	blood:

No data

Variant related genes	Relation type
PES1	TF binding region
ENSG00000223831	Chromatin interaction
ENSG00000128242	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11912540	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11913206	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11913547	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11914005	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11914168	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484495	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484688	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988803	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988810	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988814	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17526668	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34236034	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820019	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820869	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820873	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820874	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820877	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73881485	1.00[ASN][1000 genomes]
rs73881486	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30971000-30986000	Strong transcription	GM12878-XiMat	blood
2	chr22:30971000-30987200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:30971200-30986000	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr22:30971400-30985800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:30971400-30986000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr22:30971400-30986200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:30971600-30985800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr22:30971600-30985800	Strong transcription	Fetal Intestine Large	intestine
9	chr22:30971600-30986000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:30971600-30986000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr22:30971600-30986000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:30971600-30986000	Strong transcription	Brain Germinal Matrix	brain
13	chr22:30971600-30986000	Strong transcription	Fetal Brain Female	brain
14	chr22:30971800-30985800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:30971800-30986000	Strong transcription	Primary T cells from cord blood	blood
16	chr22:30972000-30986000	Strong transcription	NHLF	lung
17	chr22:30972200-30986000	Strong transcription	NHEK	skin
18	chr22:30972200-30986200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:30972200-30986600	Weak transcription	Right Atrium	heart
20	chr22:30972600-30986200	Weak transcription	Fetal Heart	heart
21	chr22:30973000-30986200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr22:30973600-30986000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr22:30974800-30986200	Strong transcription	Primary B cells from cord blood	blood
24	chr22:30977200-30985800	Strong transcription	Thymus	Thymus
25	chr22:30978400-30986200	Strong transcription	Fetal Muscle Leg	muscle
26	chr22:30979000-30985800	Strong transcription	Osteobl	bone
27	chr22:30979200-30986000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr22:30979600-30986000	Strong transcription	K562	blood
29	chr22:30979600-30986200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr22:30979800-30986000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:30980000-30986200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:30980000-30986200	Strong transcription	HSMM	muscle
33	chr22:30980200-30985800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:30980200-30985800	Strong transcription	Brain Anterior Caudate	brain
35	chr22:30980200-30985800	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr22:30980200-30985800	Strong transcription	HUVEC	blood vessel
37	chr22:30980200-30986000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:30980200-30986000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr22:30980400-30986000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr22:30980800-30985800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr22:30982600-30985800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:30982800-30986600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr22:30983000-30986600	Weak transcription	Stomach Mucosa	stomach
44	chr22:30984000-30986200	Weak transcription	Fetal Brain Male	brain
45	chr22:30984200-30985800	Strong transcription	Lung	lung
46	chr22:30984200-30986000	Weak transcription	Psoas Muscle	Psoas
47	chr22:30984400-30986000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr22:30984400-30986000	Weak transcription	A549	lung
49	chr22:30984400-30986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr22:30984400-30986200	Weak transcription	Hela-S3	cervix

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