Variant report

Variant	rs35417721
Chromosome Location	chr22:28537505-28537506
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	chr22:28536612..28538610-chr22:28539278..28541623,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13053179	1.00[AFR][1000 genomes]
rs13056425	1.00[AFR][1000 genomes]
rs13057007	0.80[EUR][1000 genomes]
rs13058473	1.00[AFR][1000 genomes]
rs28360522	0.80[EUR][1000 genomes]
rs34013124	1.00[AFR][1000 genomes]
rs34176007	1.00[AFR][1000 genomes]
rs34189918	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34364992	0.80[EUR][1000 genomes]
rs34625726	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35523745	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs71325268	0.82[EUR][1000 genomes]
rs767919	0.80[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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28513200-28538000	Weak transcription	Dnd41	blood
2	chr22:28533000-28537800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:28533600-28542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:28533800-28559000	Weak transcription	Aorta	Aorta
5	chr22:28534200-28545200	Enhancers	Fetal Lung	lung
6	chr22:28534400-28544000	Enhancers	Fetal Brain Male	brain
7	chr22:28534600-28537800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:28534600-28538000	Enhancers	NHLF	lung
9	chr22:28534600-28541000	Enhancers	Fetal Stomach	stomach
10	chr22:28535000-28538000	Enhancers	HSMMtube	muscle
11	chr22:28535000-28538200	Enhancers	Adipose Nuclei	Adipose
12	chr22:28535200-28537600	Enhancers	Osteobl	bone
13	chr22:28535400-28537600	Weak transcription	Brain Angular Gyrus	brain
14	chr22:28535400-28537800	Enhancers	NH-A	brain
15	chr22:28535400-28539400	Enhancers	HMEC	breast
16	chr22:28535400-28541200	Enhancers	Colon Smooth Muscle	Colon
17	chr22:28535600-28537800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr22:28535600-28538000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr22:28535600-28538000	Enhancers	HSMM	muscle
20	chr22:28535600-28539200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:28535600-28540400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr22:28535800-28537600	Enhancers	Ovary	ovary
23	chr22:28535800-28537800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:28535800-28539000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:28535800-28539000	Enhancers	NHEK	skin
26	chr22:28535800-28540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr22:28535800-28540400	Enhancers	Fetal Heart	heart
28	chr22:28535800-28540800	Enhancers	Rectal Smooth Muscle	rectum
29	chr22:28536000-28537600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:28536000-28542200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:28536000-28544400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:28536200-28538000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:28536200-28538200	Weak transcription	Brain Anterior Caudate	brain
34	chr22:28536200-28538400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr22:28536200-28542400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr22:28536200-28546600	Weak transcription	Left Ventricle	heart
37	chr22:28536200-28549600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr22:28536400-28538000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr22:28536400-28538400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr22:28536400-28539000	Weak transcription	Right Atrium	heart
41	chr22:28536400-28542200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr22:28536600-28538800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr22:28536800-28543800	Enhancers	Fetal Brain Female	brain
44	chr22:28537000-28538200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr22:28537000-28538400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr22:28537000-28539800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:28537200-28538000	Enhancers	Brain Germinal Matrix	brain
48	chr22:28537200-28538600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr22:28537200-28541000	Enhancers	Fetal Kidney	kidney
50	chr22:28537200-28558800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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