Variant report

Variant	rs4395278
Chromosome Location	chr2:54242784-54242785
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54236599..54238430-chr2:54241377..54242897,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10186566	0.81[ASN][1000 genomes]
rs11884699	0.81[ASN][1000 genomes]
rs7597188	0.84[ASN][1000 genomes]
rs7597189	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4395278	PSME4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54208400-54248200	Weak transcription	Lung	lung
2	chr2:54211400-54243000	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:54213600-54249800	Weak transcription	Left Ventricle	heart
4	chr2:54215000-54242800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:54217000-54248200	Weak transcription	Gastric	stomach
6	chr2:54226600-54243000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:54228800-54243400	Weak transcription	Fetal Lung	lung
8	chr2:54229000-54243000	Weak transcription	Right Atrium	heart
9	chr2:54229200-54245800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:54234400-54242800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:54235400-54242800	Weak transcription	Ovary	ovary
12	chr2:54235400-54246400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:54235800-54243600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:54237200-54243000	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:54237200-54243000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:54237400-54243000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:54238200-54246800	Weak transcription	Spleen	Spleen
18	chr2:54239200-54242800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:54239600-54242800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:54239800-54242800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:54240000-54242800	Weak transcription	Placenta	Placenta
22	chr2:54240000-54248200	Weak transcription	Psoas Muscle	Psoas
23	chr2:54240200-54242800	Weak transcription	Brain Anterior Caudate	brain
24	chr2:54240200-54243000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:54240200-54243000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:54240200-54243800	Enhancers	Primary T cells from cord blood	blood
27	chr2:54240200-54248000	Weak transcription	Adipose Nuclei	Adipose
28	chr2:54240200-54257000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:54240600-54248200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:54241400-54245600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:54241400-54247400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:54241400-54248200	Weak transcription	Thymus	Thymus
33	chr2:54241600-54242800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:54241600-54242800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:54241600-54243000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr2:54241600-54243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:54241600-54243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:54241600-54243400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:54241800-54243000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:54241800-54243000	Weak transcription	Fetal Thymus	thymus
41	chr2:54241800-54247600	Weak transcription	Primary B cells from cord blood	blood
42	chr2:54242000-54242800	Strong transcription	Fetal Intestine Small	intestine
43	chr2:54242000-54243400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:54242000-54244400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:54242200-54243200	Enhancers	Small Intestine	intestine
46	chr2:54242200-54247600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:54242200-54251800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:54242400-54243000	Enhancers	Stomach Smooth Muscle	stomach
49	chr2:54242400-54243000	Enhancers	A549	lung
50	chr2:54242400-54243200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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