Variant report

Variant	rs59635910
Chromosome Location	chr2:37554314-37554315
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:37554202-37555177	SK-N-SH	brain:	n/a	chr2:37554961-37554970 chr2:37554275-37554292 chr2:37554279-37554300 chr2:37554286-37554297
2	GATA3	chr2:37553360-37555034	SK-N-SH	brain:	n/a	chr2:37554961-37554970 chr2:37554275-37554292 chr2:37554279-37554300 chr2:37554286-37554297
3	FOXA2	chr2:37554114-37554323	HepG2	liver:	n/a	n/a
4	GATA2	chr2:37554265-37554994	SH-SY5Y	brain:	n/a	chr2:37554961-37554970 chr2:37554275-37554292 chr2:37554279-37554300 chr2:37554286-37554297
5	TCF12	chr2:37554166-37554982	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37545726..37548175-chr2:37554305..37557162,2	K562	blood:
2	chr2:37553880..37556117-chr2:37565295..37568146,2	K562	blood:

Variant related genes	Relation type
PRKD3	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12621268	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55912911	0.90[EUR][1000 genomes]
rs57400672	0.90[EUR][1000 genomes]
rs58186361	0.90[EUR][1000 genomes]
rs58283784	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60172229	0.90[EUR][1000 genomes]
rs61519361	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61622947	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72863151	0.90[EUR][1000 genomes]
rs72863156	0.90[EUR][1000 genomes]
rs72863167	0.90[EUR][1000 genomes]
rs72863171	0.90[EUR][1000 genomes]
rs72863172	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72863186	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72863188	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72863189	0.90[EUR][1000 genomes]
rs72864813	1.00[EUR][1000 genomes]
rs7592627	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59635910	RCL1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37550000-37554400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:37552800-37554400	Enhancers	Fetal Intestine Large	intestine
3	chr2:37553000-37555200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:37553200-37555000	Weak transcription	Small Intestine	intestine
5	chr2:37553400-37554400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:37553400-37554400	Enhancers	Fetal Lung	lung
7	chr2:37553400-37554600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:37553600-37554400	Active TSS	Aorta	Aorta
9	chr2:37553600-37554600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:37553800-37554400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:37553800-37554400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:37553800-37554600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr2:37553800-37562200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:37554000-37554400	Enhancers	Liver	Liver
15	chr2:37554000-37554400	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:37554000-37554400	Enhancers	Ovary	ovary
17	chr2:37554000-37554400	Enhancers	Right Atrium	heart
18	chr2:37554000-37554400	Enhancers	HMEC	breast
19	chr2:37554000-37554600	Enhancers	Colon Smooth Muscle	Colon
20	chr2:37554000-37557800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:37554200-37554400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:37554200-37554400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:37554200-37554400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:37554200-37554400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:37554200-37554400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:37554200-37554400	Enhancers	Placenta	Placenta
27	chr2:37554200-37554400	Flanking Active TSS	NHDF-Ad	bronchial
28	chr2:37554200-37554400	Flanking Active TSS	NHLF	lung
29	chr2:37554200-37554800	Enhancers	Hela-S3	cervix

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