Variant report

Variant	rs9608720
Chromosome Location	chr22:29431259-29431260
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29429778..29432047-chr22:29449305..29452097,2	K562	blood:
2	chr22:29429893..29432783-chr22:29435489..29437651,2	K562	blood:
3	chr22:29194383..29198112-chr22:29429822..29431931,3	MCF-7	breast:
4	chr22:29427479..29429172-chr22:29429415..29431878,2	K562	blood:

Variant related genes	Relation type
ENSG00000226471	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11704898	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12484832	0.80[CEU][hapmap]
rs1977047	0.81[AMR][1000 genomes]
rs1983553	0.80[CEU][hapmap]
rs2103544	0.83[AMR][1000 genomes]
rs2347789	0.81[AMR][1000 genomes]
rs2347790	0.82[CEU][hapmap]
rs2881726	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4140643	0.82[CEU][hapmap]
rs4333023	0.81[AMR][1000 genomes]
rs4820794	0.83[CEU][hapmap]
rs4823005	0.80[CEU][hapmap]
rs6005955	0.83[CEU][hapmap]
rs6005956	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs6005958	0.83[CEU][hapmap]
rs66905312	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7287517	0.83[AMR][1000 genomes]
rs8137254	0.82[CEU][hapmap]
rs874915	0.81[AMR][1000 genomes]
rs9613768	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9613776	0.83[CEU][hapmap]
rs9613777	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs9613778	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9613780	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9613782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29427400-29448400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:29427800-29436600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:29427800-29451400	Weak transcription	Psoas Muscle	Psoas
4	chr22:29428000-29441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:29428200-29434600	Genic enhancers	HepG2	liver
6	chr22:29428200-29436400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:29428400-29436400	Weak transcription	NHEK	skin
8	chr22:29428400-29436600	Weak transcription	K562	blood
9	chr22:29428600-29433200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr22:29428600-29440400	Weak transcription	Esophagus	oesophagus
11	chr22:29428600-29440800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:29428800-29433000	Weak transcription	Fetal Intestine Large	intestine
13	chr22:29428800-29436400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:29428800-29436400	Weak transcription	Left Ventricle	heart
15	chr22:29428800-29436600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29428800-29436600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:29428800-29443600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:29429000-29432200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr22:29429000-29433000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:29429000-29433000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr22:29429000-29433200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:29429000-29433200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:29429000-29433600	Weak transcription	Placenta	Placenta
24	chr22:29429000-29435000	Weak transcription	Fetal Muscle Leg	muscle
25	chr22:29429000-29436400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:29429000-29436400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:29429000-29436400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:29429000-29436400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:29429000-29436400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:29429000-29436400	Weak transcription	Brain Anterior Caudate	brain
31	chr22:29429000-29436400	Weak transcription	Fetal Lung	lung
32	chr22:29429000-29436400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr22:29429000-29436400	Weak transcription	HSMMtube	muscle
34	chr22:29429000-29436600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:29429000-29436600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr22:29429000-29436600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:29429000-29436600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:29429000-29436600	Weak transcription	Fetal Kidney	kidney
39	chr22:29429000-29436600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr22:29429000-29436800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr22:29429000-29437000	Weak transcription	Fetal Heart	heart
42	chr22:29429000-29440600	Weak transcription	Colonic Mucosa	Colon
43	chr22:29429000-29444000	Weak transcription	Right Ventricle	heart
44	chr22:29429600-29432600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr22:29429600-29433600	Weak transcription	Pancreas	Pancrea
46	chr22:29429600-29435200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:29429800-29439400	Weak transcription	Aorta	Aorta
48	chr22:29430000-29433000	Weak transcription	Lung	lung
49	chr22:29430200-29433000	Weak transcription	Fetal Intestine Small	intestine
50	chr22:29430200-29433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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