Variant report

Variant	rs9823050
Chromosome Location	chr3:34050886-34050887
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:34044983..34046948-chr3:34049221..34051231,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10212395	0.95[ASN][1000 genomes]
rs10440105	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10780020	0.98[ASN][1000 genomes]
rs10865851	0.98[ASN][1000 genomes]
rs1109973	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707844	0.95[ASN][1000 genomes]
rs11924658	0.93[ASN][1000 genomes]
rs12715234	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1881938	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4045199	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075756	0.95[ASN][1000 genomes]
rs4234228	0.95[ASN][1000 genomes]
rs4234229	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234230	0.95[ASN][1000 genomes]
rs4270459	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4293663	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4355233	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4374481	0.83[EUR][1000 genomes]
rs4377444	1.00[ASN][1000 genomes]
rs4411835	1.00[ASN][1000 genomes]
rs4525815	0.98[ASN][1000 genomes]
rs4530479	1.00[ASN][1000 genomes]
rs4550783	1.00[ASN][1000 genomes]
rs4599247	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4678628	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4678631	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6550241	0.98[ASN][1000 genomes]
rs6763221	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6766292	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776036	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6782895	0.98[ASN][1000 genomes]
rs9817642	1.00[ASN][1000 genomes]
rs9819006	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9843038	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9845173	1.00[ASN][1000 genomes]
rs9866710	0.98[ASN][1000 genomes]
rs9868204	1.00[ASN][1000 genomes]
rs9870373	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9871398	1.00[ASN][1000 genomes]
rs9875057	1.00[ASN][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	nsv522881	chr3:33736126-34241686	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9823050	GPD1L	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34045000-34055400	Enhancers	NHDF-Ad	bronchial
2	chr3:34045000-34055600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:34045800-34055400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:34046200-34054600	Enhancers	Osteobl	bone
5	chr3:34046800-34051800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:34047200-34056000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:34048800-34051200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:34048800-34052800	Weak transcription	HSMMtube	muscle
9	chr3:34049200-34051400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:34049200-34051600	Enhancers	NH-A	brain
11	chr3:34049200-34055400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:34049400-34051200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:34049400-34051400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:34049400-34051400	Enhancers	K562	blood
15	chr3:34049400-34054600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:34050000-34052800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:34050000-34055200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:34050000-34056800	Weak transcription	Thymus	Thymus
19	chr3:34050200-34051000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:34050200-34051200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:34050200-34052000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:34050200-34052200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:34050200-34052800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:34050200-34053400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:34050200-34055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:34050400-34052600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:34050400-34053000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr3:34050800-34051400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:34050800-34051800	Flanking Active TSS	A549	lung
30	chr3:34050800-34053200	Enhancers	HepG2	liver
31	chr3:34050800-34054400	Enhancers	HSMM	muscle
32	chr3:34050800-34054600	Enhancers	Hela-S3	cervix
33	chr3:34050800-34055600	Enhancers	NHLF	lung

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