Variant report

Variant	rs2800288
Chromosome Location	chr9:103355274-103355275
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	chr9:103348301..103352050-chr9:103353631..103357839,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10819773	0.81[YRI][hapmap]
rs10989168	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1135455	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226588	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226592	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1226594	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226596	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13291670	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13301089	0.98[ASN][1000 genomes]
rs1760290	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2151597	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2489363	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2489364	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2780954	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2780958	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2780959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2800283	0.80[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2800289	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72735191	0.98[ASN][1000 genomes]
rs951868	0.83[ASW][hapmap];0.80[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

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	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv893624	chr9:103351931-103416553	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2800288	GRIN3A	cis	cerebellum	SCAN
rs2800288	NCBP1	cis	multi-tissue	Pritchard

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103329600-103360800	Weak transcription	Aorta	Aorta
2	chr9:103330000-103357800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:103331600-103360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:103332400-103357600	Weak transcription	Fetal Lung	lung
5	chr9:103333600-103360800	Weak transcription	Fetal Brain Male	brain
6	chr9:103343200-103360600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:103346200-103359800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:103348600-103361000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:103348800-103360600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:103349600-103360800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr9:103349800-103359400	Weak transcription	Brain Germinal Matrix	brain
12	chr9:103350000-103357600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:103350000-103357600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr9:103350000-103360200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:103350200-103357600	Weak transcription	Fetal Brain Female	brain
16	chr9:103350200-103360200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:103350400-103357600	Weak transcription	Hela-S3	cervix
18	chr9:103350400-103359200	Weak transcription	Fetal Heart	heart
19	chr9:103350400-103360000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr9:103350600-103360800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:103350800-103357600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:103351000-103360000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr9:103351000-103360600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:103351200-103357600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:103351600-103355600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:103351600-103360600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:103352200-103357800	Weak transcription	A549	lung
28	chr9:103353200-103357600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:103353200-103357600	Weak transcription	HUVEC	blood vessel
30	chr9:103353400-103360600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:103353600-103356400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr9:103353600-103356400	Weak transcription	NHDF-Ad	bronchial
33	chr9:103353600-103357600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:103353600-103360400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:103353800-103357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:103353800-103357600	Weak transcription	Brain Anterior Caudate	brain
37	chr9:103353800-103357800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:103353800-103357800	Weak transcription	NH-A	brain
39	chr9:103353800-103357800	Weak transcription	Osteobl	bone
40	chr9:103354000-103357600	Weak transcription	Fetal Muscle Leg	muscle
41	chr9:103354000-103357600	Weak transcription	HSMM	muscle
42	chr9:103354000-103357600	Weak transcription	HSMMtube	muscle
43	chr9:103354000-103360800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:103354200-103357400	Weak transcription	Brain Angular Gyrus	brain
45	chr9:103354200-103357600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr9:103354400-103359600	Weak transcription	Brain Hippocampus Middle	brain
47	chr9:103354400-103360800	Weak transcription	Brain Substantia Nigra	brain
48	chr9:103354600-103357600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr9:103354600-103357600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr9:103354600-103360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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