Variant report

Variant	rs17372901
Chromosome Location	chr8:125600160-125600161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125504278..125506090-chr8:125598292..125600980,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13263130	1.00[LWK][hapmap]
rs13269215	1.00[LWK][hapmap]
rs17298759	1.00[ASW][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];1.00[ASN][1000 genomes]
rs17298884	1.00[ASW][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];1.00[ASN][1000 genomes]
rs17298912	1.00[ASN][1000 genomes]
rs17299030	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs17299208	1.00[ASW][hapmap];0.86[CEU][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];1.00[ASN][1000 genomes]
rs17299341	0.85[CEU][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17300503	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4457314	1.00[LWK][hapmap]
rs4585740	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470248	0.83[GIH][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap]
rs7003602	1.00[ASN][1000 genomes]
rs7010902	1.00[LWK][hapmap]
rs7830235	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1024804	chr8:125575803-125600950	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1025014	chr8:125578314-125600950	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3397815	chr8:125599381-125603392	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3490340	chr8:125599453-125603469	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3490342	chr8:125599453-125603469	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv5049	chr8:125599474-125603393	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17372901	A1BG	trans	parietal	SCAN
rs17372901	TRMT12	cis	multi-tissue	Pritchard
rs17372901	RFC5	trans	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
2	chr8:125566400-125600600	Weak transcription	NHEK	skin
3	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
6	chr8:125579400-125601600	Weak transcription	Brain Anterior Caudate	brain
7	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
8	chr8:125585400-125609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:125586400-125603600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:125586800-125605000	Weak transcription	Right Atrium	heart
11	chr8:125586800-125605000	Weak transcription	NHDF-Ad	bronchial
12	chr8:125587000-125603400	Weak transcription	Stomach Mucosa	stomach
13	chr8:125587200-125605400	Weak transcription	Fetal Lung	lung
14	chr8:125587200-125605800	Weak transcription	Psoas Muscle	Psoas
15	chr8:125588800-125603400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:125590600-125600600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:125590800-125600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:125590800-125603600	Strong transcription	HepG2	liver
19	chr8:125591000-125602600	Weak transcription	NHLF	lung
20	chr8:125591400-125603600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:125591800-125603000	Weak transcription	Fetal Brain Male	brain
22	chr8:125592000-125605400	Weak transcription	Osteobl	bone
23	chr8:125592000-125605600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:125592200-125602600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:125592200-125604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:125592200-125605400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:125592400-125603400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:125592600-125605000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:125593000-125602600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:125593600-125606800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:125594000-125603600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:125595600-125601600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:125595800-125600600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:125595800-125602600	Weak transcription	Lung	lung
35	chr8:125596000-125605800	Weak transcription	HSMM	muscle
36	chr8:125596200-125603400	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:125596200-125616400	Weak transcription	HSMMtube	muscle
38	chr8:125596400-125609800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:125596800-125605000	Weak transcription	HUVEC	blood vessel
40	chr8:125597000-125602000	Weak transcription	Brain Substantia Nigra	brain
41	chr8:125597000-125603800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:125597200-125600200	Weak transcription	Left Ventricle	heart
43	chr8:125597200-125600400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:125597200-125600600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:125597200-125601800	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:125597200-125607000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr8:125597400-125600200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:125597400-125600200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:125597400-125600200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr8:125597400-125600400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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