Variant report

Variant	rs2073029
Chromosome Location	chr22:28426128-28426129
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	chr22:28422055..28424855-chr22:28425948..28427565,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs134169	0.88[CEU][hapmap];0.90[GIH][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap]
rs134170	0.83[CEU][hapmap];0.90[GIH][hapmap];0.80[MEX][hapmap];0.90[TSI][hapmap]
rs5762456	0.81[CEU][hapmap]
rs6005693	0.81[JPT][hapmap]
rs742547	0.91[JPT][hapmap];0.81[AFR][1000 genomes]
rs8138623	0.81[CHB][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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2073029	GNAZ	cis	cerebellum	SCAN
rs2073029	CABP7	cis	cerebellum	SCAN
rs2073029	SF3A1	cis	parietal	SCAN
rs2073029	SUSD2	cis	parietal	SCAN
rs2073029	TTC28	cis	cerebellum	SCAN
rs2073029	ASPHD2	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28409000-28428000	Genic enhancers	Fetal Muscle Leg	muscle
2	chr22:28409400-28430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:28416600-28431000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr22:28417800-28426200	Genic enhancers	Fetal Muscle Trunk	muscle
5	chr22:28418600-28429800	Strong transcription	Dnd41	blood
6	chr22:28419800-28427400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr22:28420200-28426400	Enhancers	Psoas Muscle	Psoas
8	chr22:28421600-28427200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:28421800-28427000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:28422000-28426400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr22:28422200-28426800	Enhancers	Primary hematopoietic stem cells	blood
12	chr22:28422400-28426800	Strong transcription	Primary T cells from cord blood	blood
13	chr22:28422800-28426400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr22:28423000-28426400	Enhancers	Stomach Mucosa	stomach
15	chr22:28423000-28426800	Enhancers	Left Ventricle	heart
16	chr22:28423000-28427000	Genic enhancers	Fetal Stomach	stomach
17	chr22:28423000-28427400	Enhancers	Brain Cingulate Gyrus	brain
18	chr22:28423000-28427400	Genic enhancers	Fetal Brain Female	brain
19	chr22:28423000-28427600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:28423000-28427600	Enhancers	Esophagus	oesophagus
21	chr22:28423200-28426400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr22:28423200-28426800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:28423200-28426800	Enhancers	Right Atrium	heart
24	chr22:28423200-28427000	Enhancers	Brain Substantia Nigra	brain
25	chr22:28423200-28427200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr22:28423200-28427400	Enhancers	HUVEC	blood vessel
27	chr22:28423200-28427800	Enhancers	Colon Smooth Muscle	Colon
28	chr22:28423400-28427600	Enhancers	Pancreas	Pancrea
29	chr22:28423400-28431800	Enhancers	Fetal Thymus	thymus
30	chr22:28423600-28426200	Genic enhancers	Lung	lung
31	chr22:28423600-28426200	Enhancers	Rectal Smooth Muscle	rectum
32	chr22:28423800-28426200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:28424200-28426200	Genic enhancers	Fetal Intestine Large	intestine
34	chr22:28424200-28426200	Genic enhancers	Fetal Intestine Small	intestine
35	chr22:28424200-28426200	Genic enhancers	Placenta	Placenta
36	chr22:28424400-28426200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:28424400-28426200	Genic enhancers	Brain Germinal Matrix	brain
38	chr22:28424400-28426200	Genic enhancers	Fetal Lung	lung
39	chr22:28424400-28426400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:28424400-28426400	Genic enhancers	Gastric	stomach
41	chr22:28424600-28426400	Genic enhancers	Adipose Nuclei	Adipose
42	chr22:28424600-28427400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr22:28424800-28426200	Genic enhancers	Duodenum Mucosa	Duodenum
44	chr22:28424800-28426200	Genic enhancers	NHLF	lung
45	chr22:28424800-28426600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr22:28425000-28426200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr22:28425000-28426400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr22:28425000-28427200	Enhancers	Brain Hippocampus Middle	brain
49	chr22:28425200-28426200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr22:28425200-28426400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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