Variant report

Variant	rs71325269
Chromosome Location	chr22:28369009-28369010
allele	C/G
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: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13054964	0.88[EUR][1000 genomes]
rs13055218	0.88[EUR][1000 genomes]
rs13055244	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13055409	0.90[EUR][1000 genomes]
rs13055548	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13057007	0.93[EUR][1000 genomes]
rs13057353	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13057948	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13058493	0.88[EUR][1000 genomes]
rs28360522	0.93[EUR][1000 genomes]
rs34013124	0.90[EUR][1000 genomes]
rs34031771	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34189918	0.93[EUR][1000 genomes]
rs34364992	0.93[EUR][1000 genomes]
rs34625726	0.93[EUR][1000 genomes]
rs34946887	0.95[EUR][1000 genomes]
rs35098100	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35182834	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35286067	0.86[EUR][1000 genomes]
rs35568348	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35568804	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35649017	0.88[EUR][1000 genomes]
rs35750499	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35866626	1.00[AFR][1000 genomes]
rs35906248	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36060887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41281591	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs71325264	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71325266	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71325268	1.00[AFR][1000 genomes]
rs71325272	1.00[AFR][1000 genomes]
rs71325273	0.88[EUR][1000 genomes]
rs71325275	0.86[EUR][1000 genomes]
rs71325276	0.86[EUR][1000 genomes]
rs736531	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs767919	0.93[EUR][1000 genomes]
rs8141981	0.90[EUR][1000 genomes]
rs910009	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[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:64 , 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	chr22:28329400-28377800	Weak transcription	Primary T cells from cord blood	blood
8	chr22:28353400-28369200	Weak transcription	Fetal Stomach	stomach
9	chr22:28355400-28387800	Weak transcription	Fetal Brain Male	brain
10	chr22:28355600-28378000	Weak transcription	Gastric	stomach
11	chr22:28355800-28371800	Weak transcription	Right Ventricle	heart
12	chr22:28355800-28378000	Weak transcription	Aorta	Aorta
13	chr22:28355800-28378000	Weak transcription	Left Ventricle	heart
14	chr22:28356600-28378000	Weak transcription	Psoas Muscle	Psoas
15	chr22:28358600-28379400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr22:28359000-28377800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr22:28359200-28377800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr22:28360000-28371600	Weak transcription	Ovary	ovary
19	chr22:28360000-28379400	Weak transcription	Colonic Mucosa	Colon
20	chr22:28360200-28382800	Weak transcription	HSMM	muscle
21	chr22:28360800-28392400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr22:28362600-28375800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:28362800-28378000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:28363000-28370000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:28363000-28377800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr22:28363800-28375000	Weak transcription	Lung	lung
27	chr22:28365200-28377600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:28366200-28378000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr22:28366400-28369200	Weak transcription	NHLF	lung
30	chr22:28367400-28369800	Weak transcription	Fetal Kidney	kidney
31	chr22:28367600-28373800	Weak transcription	Dnd41	blood
32	chr22:28367600-28377800	Weak transcription	Colon Smooth Muscle	Colon
33	chr22:28367800-28377800	Weak transcription	Brain Anterior Caudate	brain
34	chr22:28368200-28373600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr22:28368200-28376000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr22:28368400-28374600	Weak transcription	Adipose Nuclei	Adipose
37	chr22:28368400-28377800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr22:28368400-28383400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr22:28368600-28369400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:28368600-28369400	Enhancers	Fetal Intestine Large	intestine
41	chr22:28368600-28369400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr22:28368600-28369600	Enhancers	Pancreas	Pancrea
43	chr22:28368600-28371600	Weak transcription	Osteobl	bone
44	chr22:28368600-28374400	Weak transcription	Brain Germinal Matrix	brain
45	chr22:28368600-28377600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr22:28368600-28377800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:28368800-28369400	Enhancers	Fetal Intestine Small	intestine
48	chr22:28368800-28369800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr22:28368800-28369800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr22:28368800-28370000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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