Variant report

Variant	rs738453
Chromosome Location	chr22:28301743-28301744
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	chr22:28301560..28304524-chr22:28307675..28309326,2	MCF-7	breast:
2	chr22:28296852..28298965-chr22:28300379..28302947,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2267121	0.88[CEU][hapmap]
rs5997319	0.88[CEU][hapmap]
rs720621	0.84[CEU][hapmap]
rs738451	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs738453	LOC91316	cis	cerebellum	SCAN
rs738453	CYTSA	cis	parietal	SCAN
rs738453	AP1B1	cis	cerebellum	SCAN
rs738453	CHEK2	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:28277200-28308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr22:28277800-28308400	Strong transcription	Dnd41	blood
4	chr22:28280600-28308000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:28281600-28308000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr22:28283000-28307000	Strong transcription	Fetal Intestine Large	intestine
7	chr22:28283200-28307600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:28283600-28310000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:28283800-28304200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr22:28283800-28304200	Strong transcription	Fetal Thymus	thymus
11	chr22:28283800-28308000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:28285000-28301800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:28286000-28309000	Weak transcription	Stomach Mucosa	stomach
14	chr22:28286200-28311400	Weak transcription	Right Atrium	heart
15	chr22:28288600-28309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr22:28289000-28312600	Weak transcription	Psoas Muscle	Psoas
17	chr22:28292000-28305800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:28292400-28303200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:28292600-28307800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:28292800-28302800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr22:28292800-28306000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:28292800-28307200	Strong transcription	Liver	Liver
23	chr22:28292800-28309200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr22:28293000-28305600	Weak transcription	Brain Hippocampus Middle	brain
25	chr22:28293200-28306000	Weak transcription	Brain Anterior Caudate	brain
26	chr22:28293200-28309000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr22:28293400-28306600	Weak transcription	Hela-S3	cervix
28	chr22:28293800-28309200	Weak transcription	Brain Substantia Nigra	brain
29	chr22:28293800-28309600	Weak transcription	Right Ventricle	heart
30	chr22:28293800-28311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:28294000-28302000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr22:28294000-28302600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr22:28294000-28302600	Weak transcription	HSMMtube	muscle
34	chr22:28294000-28303200	Weak transcription	Esophagus	oesophagus
35	chr22:28294000-28305200	Weak transcription	Lung	lung
36	chr22:28294000-28309200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:28294400-28303200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:28294400-28303200	Weak transcription	Pancreas	Pancrea
39	chr22:28295200-28302000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr22:28295200-28302800	Weak transcription	Fetal Brain Male	brain
41	chr22:28295200-28303400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr22:28295200-28303600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr22:28295200-28305800	Weak transcription	Colon Smooth Muscle	Colon
44	chr22:28295200-28305800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr22:28295200-28309200	Weak transcription	Brain Angular Gyrus	brain
46	chr22:28295200-28313800	Weak transcription	Colonic Mucosa	Colon
47	chr22:28296000-28305600	Weak transcription	Left Ventricle	heart
48	chr22:28296200-28308200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr22:28297000-28307200	Strong transcription	Fetal Lung	lung
50	chr22:28298200-28307800	Strong transcription	HSMM	muscle

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