Variant report

Variant	rs4326954
Chromosome Location	chr14:35842918-35842919
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	chr14:35833474..35838463-chr14:35839143..35843538,8	K562	blood:
2	chr14:35833202..35845291-chr14:35869974..35876968,23	K562	blood:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1073597	0.80[EUR][1000 genomes]
rs11622212	0.86[EUR][1000 genomes]
rs17091835	0.87[EUR][1000 genomes]
rs17103226	0.82[EUR][1000 genomes]
rs17103240	0.80[EUR][1000 genomes]
rs17103242	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4272943	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
4	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4326954	PPP2R3C	cis	Whole Blood	GTEx
rs4326954	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35821600-35843800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:35837000-35843400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:35837400-35852400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:35837800-35843200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:35838400-35843200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:35838400-35843600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:35838600-35843200	Weak transcription	Osteobl	bone
8	chr14:35838600-35843600	Weak transcription	NH-A	brain
9	chr14:35838600-35843800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:35838800-35847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:35839000-35843400	Weak transcription	NHDF-Ad	bronchial
12	chr14:35839000-35843800	Weak transcription	Brain Anterior Caudate	brain
13	chr14:35839200-35843800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:35839600-35843200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:35839600-35843600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:35839600-35845000	Weak transcription	Spleen	Spleen
17	chr14:35839600-35852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:35839800-35843200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:35839800-35843400	Weak transcription	HUVEC	blood vessel
20	chr14:35839800-35843400	Weak transcription	K562	blood
21	chr14:35840000-35843800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:35840200-35845000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:35840400-35843800	Weak transcription	HMEC	breast
24	chr14:35841600-35843400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:35841600-35853000	Weak transcription	Right Atrium	heart
26	chr14:35841800-35843600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr14:35841800-35845000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr14:35842000-35843600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr14:35842000-35846000	Enhancers	Placenta	Placenta
30	chr14:35842200-35843200	Weak transcription	Hela-S3	cervix
31	chr14:35842200-35843400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:35842200-35843400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:35842200-35843600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:35842400-35843400	Weak transcription	HepG2	liver
35	chr14:35842400-35845000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:35842400-35845000	Weak transcription	Lung	lung
37	chr14:35842600-35843000	Weak transcription	Primary monocytes fromperipheralblood	blood

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