Variant report

Variant	rs9613552
Chromosome Location	chr22:28370232-28370233
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	chr22:28362679..28365535-chr22:28367291..28371194,5	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11090520	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17409164	1.00[AFR][1000 genomes]
rs17409195	1.00[AFR][1000 genomes]
rs17480516	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17483415	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs738455	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs738474	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9608663	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9608666	0.88[CEU][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9608672	1.00[AFR][1000 genomes]
rs9613549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9613558	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9613560	1.00[ASW][hapmap];0.88[CEU][hapmap];0.88[GIH][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9613568	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs9613569	1.00[ASW][hapmap];0.88[CEU][hapmap];0.88[GIH][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9613573	1.00[AFR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9613552	CRYBB2P1	cis	parietal	SCAN
rs9613552	HPS4	cis	parietal	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28316400-28376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:28316400-28378000	Weak transcription	Esophagus	oesophagus
3	chr22:28318800-28382000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:28319600-28383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:28321400-28379000	Weak transcription	Primary B cells from cord blood	blood
6	chr22:28329400-28377800	Weak transcription	Primary T cells from cord blood	blood
7	chr22:28355400-28387800	Weak transcription	Fetal Brain Male	brain
8	chr22:28355600-28378000	Weak transcription	Gastric	stomach
9	chr22:28355800-28371800	Weak transcription	Right Ventricle	heart
10	chr22:28355800-28378000	Weak transcription	Aorta	Aorta
11	chr22:28355800-28378000	Weak transcription	Left Ventricle	heart
12	chr22:28356600-28378000	Weak transcription	Psoas Muscle	Psoas
13	chr22:28358600-28379400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr22:28359000-28377800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr22:28359200-28377800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:28360000-28371600	Weak transcription	Ovary	ovary
17	chr22:28360000-28379400	Weak transcription	Colonic Mucosa	Colon
18	chr22:28360200-28382800	Weak transcription	HSMM	muscle
19	chr22:28360800-28392400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr22:28362600-28375800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:28362800-28378000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:28363000-28377800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr22:28363800-28375000	Weak transcription	Lung	lung
24	chr22:28365200-28377600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:28366200-28378000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr22:28367600-28373800	Weak transcription	Dnd41	blood
27	chr22:28367600-28377800	Weak transcription	Colon Smooth Muscle	Colon
28	chr22:28367800-28377800	Weak transcription	Brain Anterior Caudate	brain
29	chr22:28368200-28373600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr22:28368200-28376000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:28368400-28374600	Weak transcription	Adipose Nuclei	Adipose
32	chr22:28368400-28377800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr22:28368400-28383400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr22:28368600-28371600	Weak transcription	Osteobl	bone
35	chr22:28368600-28374400	Weak transcription	Brain Germinal Matrix	brain
36	chr22:28368600-28377600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:28368600-28377800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr22:28368800-28372000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr22:28368800-28373800	Weak transcription	Fetal Muscle Leg	muscle
40	chr22:28368800-28376800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr22:28368800-28377800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:28368800-28385800	Weak transcription	Brain Angular Gyrus	brain
43	chr22:28369000-28371000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:28369000-28381200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr22:28369200-28370400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:28369200-28370800	Enhancers	Fetal Lung	lung
47	chr22:28369200-28371600	Weak transcription	Small Intestine	intestine
48	chr22:28369200-28398400	Weak transcription	Hela-S3	cervix
49	chr22:28369400-28370600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:28369400-28370800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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