Variant report

Variant	rs55705819
Chromosome Location	chr2:54304122-54304123
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54303310..54306490-chr2:54307537..54312281,6	K562	blood:
2	chr2:54303600..54306437-chr2:54307043..54310223,4	K562	blood:
3	chr2:54299748..54301680-chr2:54304103..54306352,2	K562	blood:
4	chr2:54297675..54299835-chr2:54302463..54304744,3	K562	blood:

Variant related genes	Relation type
ENSG00000241114	Chromatin interaction
ENSG00000272156	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10496028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676462	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11890838	0.81[ASN][1000 genomes]
rs11896815	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11898855	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17039547	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17045474	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17045488	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2287643	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2357896	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34498089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34773403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671861	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55649409	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55930424	0.87[AFR][1000 genomes]
rs56193146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62137964	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62137976	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62137980	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62140990	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62141002	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6545381	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6545386	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6714450	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6721970	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7559384	0.82[ASN][1000 genomes]
rs7565453	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7573551	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7576901	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7590819	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1010175	chr2:54292951-54343466	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55705819	PSME4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54280800-54310000	Weak transcription	Ovary	ovary
2	chr2:54280800-54315000	Weak transcription	Adipose Nuclei	Adipose
3	chr2:54280800-54315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:54280800-54331000	Weak transcription	Aorta	Aorta
5	chr2:54281600-54308800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:54287000-54310000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:54287200-54307000	Weak transcription	Primary T cells from cord blood	blood
8	chr2:54289800-54317600	Weak transcription	Primary B cells from cord blood	blood
9	chr2:54291200-54342000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:54291800-54304800	Weak transcription	Fetal Kidney	kidney
11	chr2:54292000-54308400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:54293000-54306000	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:54293200-54306200	Weak transcription	Brain Anterior Caudate	brain
14	chr2:54293200-54306200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:54293400-54308400	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:54293600-54310600	Weak transcription	HSMM	muscle
17	chr2:54294800-54315000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:54295200-54312200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:54295400-54309800	Weak transcription	Fetal Brain Male	brain
20	chr2:54301400-54304200	Weak transcription	GM12878-XiMat	blood
21	chr2:54301600-54308200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:54302200-54308200	Weak transcription	HMEC	breast
23	chr2:54302200-54310600	Weak transcription	A549	lung
24	chr2:54302600-54308600	Weak transcription	NH-A	brain
25	chr2:54302600-54310400	Weak transcription	Osteobl	bone
26	chr2:54302800-54317800	Weak transcription	Left Ventricle	heart
27	chr2:54303200-54304800	Enhancers	Fetal Heart	heart
28	chr2:54303400-54305000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:54303400-54305400	Flanking Active TSS	K562	blood
30	chr2:54303800-54305000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:54303800-54305000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:54303800-54305000	Enhancers	Pancreas	Pancrea

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