Variant report

Variant	rs7292859
Chromosome Location	chr22:28368266-28368267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28362771..28365535-chr22:28367291..28370086,2	K562	blood:
2	chr22:28362679..28365535-chr22:28367291..28371194,5	K562	blood:
3	chr22:28358748..28362287-chr22:28366075..28369261,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1000112	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10483139	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs118840	0.90[MEX][hapmap]
rs12167128	0.84[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs12168582	0.90[MEX][hapmap]
rs12169782	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12170161	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs130411	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs130414	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs13058351	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs138630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138636	0.90[MEX][hapmap]
rs138639	0.90[MEX][hapmap]
rs138646	0.90[MEX][hapmap]
rs138648	0.80[MEX][hapmap]
rs138676	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs138679	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17389267	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17480137	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17480369	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2038287	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs2143420	0.90[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs34734418	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs470101	0.90[MEX][hapmap]
rs7286795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8135697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs926467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs9620758	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625352	0.90[MEX][hapmap]
rs9625368	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9985181	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28316400-28370200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr22:28316400-28376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:28316400-28378000	Weak transcription	Esophagus	oesophagus
4	chr22:28318800-28382000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr22:28319600-28383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr22:28321400-28379000	Weak transcription	Primary B cells from cord blood	blood
7	chr22:28326800-28368600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:28329400-28377800	Weak transcription	Primary T cells from cord blood	blood
9	chr22:28353400-28369200	Weak transcription	Fetal Stomach	stomach
10	chr22:28355400-28387800	Weak transcription	Fetal Brain Male	brain
11	chr22:28355600-28378000	Weak transcription	Gastric	stomach
12	chr22:28355800-28368600	Weak transcription	Pancreas	Pancrea
13	chr22:28355800-28371800	Weak transcription	Right Ventricle	heart
14	chr22:28355800-28378000	Weak transcription	Aorta	Aorta
15	chr22:28355800-28378000	Weak transcription	Left Ventricle	heart
16	chr22:28356600-28378000	Weak transcription	Psoas Muscle	Psoas
17	chr22:28358600-28379400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:28359000-28368600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr22:28359000-28377800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr22:28359200-28377800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr22:28360000-28368800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:28360000-28371600	Weak transcription	Ovary	ovary
23	chr22:28360000-28379400	Weak transcription	Colonic Mucosa	Colon
24	chr22:28360200-28382800	Weak transcription	HSMM	muscle
25	chr22:28360600-28369000	Weak transcription	Liver	Liver
26	chr22:28360800-28392400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:28362600-28375800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:28362800-28378000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:28363000-28370000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr22:28363000-28377800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr22:28363800-28375000	Weak transcription	Lung	lung
32	chr22:28365200-28368600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:28365200-28377600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:28366200-28378000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr22:28366400-28369200	Weak transcription	NHLF	lung
36	chr22:28366600-28368400	Weak transcription	Osteobl	bone
37	chr22:28367400-28369000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr22:28367400-28369800	Weak transcription	Fetal Kidney	kidney
39	chr22:28367600-28368800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:28367600-28373800	Weak transcription	Dnd41	blood
41	chr22:28367600-28377800	Weak transcription	Colon Smooth Muscle	Colon
42	chr22:28367800-28368400	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr22:28367800-28368800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr22:28367800-28377800	Weak transcription	Brain Anterior Caudate	brain
45	chr22:28368000-28368400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr22:28368000-28368600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr22:28368000-28368800	ZNF genes & repeats	Fetal Muscle Leg	muscle
48	chr22:28368200-28368400	ZNF genes & repeats	Brain Angular Gyrus	brain
49	chr22:28368200-28368400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
50	chr22:28368200-28368600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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