Variant report

Variant	rs17483415
Chromosome Location	chr22:28404964-28404965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28276420..28277471-chr22:28404905..28405994,4	MCF-7	breast:
2	chr22:28401032..28403259-chr22:28403789..28405576,2	K562	blood:
3	chr22:28393472..28395855-chr22:28403235..28405878,4	K562	blood:

Variant related genes	Relation type
ENSG00000235954	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11090520	0.93[EUR][1000 genomes]
rs17480516	0.82[EUR][1000 genomes]
rs738455	0.90[EUR][1000 genomes]
rs738474	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8135679	1.00[YRI][hapmap]
rs9608663	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9608665	0.82[EUR][1000 genomes]
rs9608666	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs9613549	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9613552	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9613558	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9613560	0.88[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9613564	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9613568	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs9613569	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs9613573	0.88[CEU][hapmap]

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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28373800-28405200	Strong transcription	Fetal Intestine Small	intestine
2	chr22:28381800-28412400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr22:28384000-28405000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:28386200-28405800	Strong transcription	Dnd41	blood
5	chr22:28386200-28416000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr22:28387400-28405200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:28387600-28405000	Weak transcription	Fetal Kidney	kidney
8	chr22:28389200-28410000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:28389200-28413000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:28390000-28414600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:28390400-28416200	Weak transcription	Colonic Mucosa	Colon
12	chr22:28392200-28405200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr22:28393400-28408800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:28394200-28405000	Weak transcription	Fetal Brain Male	brain
15	chr22:28394200-28405000	Weak transcription	NHDF-Ad	bronchial
16	chr22:28394800-28414000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:28395000-28416400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr22:28395200-28405000	Weak transcription	Brain Substantia Nigra	brain
19	chr22:28395200-28405200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr22:28395200-28409200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:28395400-28406400	Weak transcription	Aorta	Aorta
22	chr22:28395400-28409200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr22:28395600-28408200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr22:28395600-28413000	Weak transcription	Pancreas	Pancrea
25	chr22:28396000-28422400	Weak transcription	Primary T cells from cord blood	blood
26	chr22:28396800-28407600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr22:28397200-28405000	Weak transcription	Brain Hippocampus Middle	brain
28	chr22:28397200-28409400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr22:28397200-28423000	Weak transcription	HepG2	liver
30	chr22:28397400-28405000	Weak transcription	Brain Anterior Caudate	brain
31	chr22:28397400-28408800	Weak transcription	Brain Angular Gyrus	brain
32	chr22:28397400-28412000	Weak transcription	Placenta	Placenta
33	chr22:28397600-28405000	Weak transcription	Gastric	stomach
34	chr22:28398000-28405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:28398400-28405600	Weak transcription	Esophagus	oesophagus
36	chr22:28399400-28425800	Weak transcription	Liver	Liver
37	chr22:28399600-28409000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr22:28400600-28405200	Weak transcription	Fetal Intestine Large	intestine
39	chr22:28400800-28410200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:28401600-28405000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr22:28401600-28405200	Weak transcription	Adipose Nuclei	Adipose
42	chr22:28401600-28405200	Weak transcription	Fetal Lung	lung
43	chr22:28401600-28409000	Strong transcription	Fetal Muscle Leg	muscle
44	chr22:28401600-28412000	Weak transcription	Thymus	Thymus
45	chr22:28401800-28407800	Weak transcription	Lung	lung
46	chr22:28401800-28408200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:28401800-28410400	Weak transcription	Fetal Thymus	thymus
48	chr22:28402000-28405000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr22:28402200-28405600	Weak transcription	Spleen	Spleen
50	chr22:28402200-28408000	Weak transcription	Right Ventricle	heart

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