Variant report

Variant	rs395122
Chromosome Location	chr5:68464910-68464911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68337387..68340209-chr5:68463465..68465141,2	K562	blood:
2	chr5:68462643..68465474-chr5:68512138..68513918,2	K562	blood:
3	chr5:68461424..68464982-chr5:68663773..68666998,5	K562	blood:
4	chr5:68463334..68467714-chr5:68469560..68473881,5	MCF-7	breast:
5	chr5:68463301..68465130-chr5:68476296..68477877,2	MCF-7	breast:
6	chr5:68462671..68465247-chr5:68664046..68666511,2	K562	blood:

Variant related genes	Relation type
ENSG00000134057	Chromatin interaction
ENSG00000238334	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000250237	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000134056	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs100192	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11742461	0.86[ASN][1000 genomes]
rs11744596	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11745578	0.86[ASN][1000 genomes]
rs12659146	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13175606	0.85[ASN][1000 genomes]
rs151589	0.85[ASN][1000 genomes]
rs163442	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs163443	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163444	0.85[ASN][1000 genomes]
rs164386	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs164388	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164389	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164390	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs164715	0.85[ASN][1000 genomes]
rs1650779	0.81[ASN][1000 genomes]
rs1683831	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs184747	0.85[ASN][1000 genomes]
rs2002825	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2242351	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs239591	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2450230	0.81[ASN][1000 genomes]
rs2450246	0.80[ASN][1000 genomes]
rs2637128	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2637129	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28506805	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28576332	0.86[ASN][1000 genomes]
rs28693971	0.86[ASN][1000 genomes]
rs2913707	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2930944	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2930945	0.82[ASN][1000 genomes]
rs2930946	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932767	0.80[ASN][1000 genomes]
rs2932770	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932771	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932772	0.83[ASN][1000 genomes]
rs2932773	0.83[ASN][1000 genomes]
rs2932775	0.83[ASN][1000 genomes]
rs2932776	0.83[ASN][1000 genomes]
rs2932777	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932778	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932780	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2932783	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972358	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2972373	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2972374	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2972390	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34845020	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs350093	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs350094	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs350095	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs350099	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs350105	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs350107	0.85[ASN][1000 genomes]
rs350109	0.84[ASN][1000 genomes]
rs350115	0.85[ASN][1000 genomes]
rs350119	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs350120	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs350123	0.83[ASN][1000 genomes]
rs350124	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs350125	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs351424	0.81[ASN][1000 genomes]
rs352626	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs353656	0.84[ASN][1000 genomes]
rs375285	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs376768	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379106	0.81[ASN][1000 genomes]
rs379434	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386640	0.85[ASN][1000 genomes]
rs389686	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs389938	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs390169	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs419902	0.85[ASN][1000 genomes]
rs437665	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs444305	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs476125	0.95[ASN][1000 genomes]
rs4976159	0.87[ASN][1000 genomes]
rs4976188	0.87[ASN][1000 genomes]
rs648489	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs651076	0.82[ASN][1000 genomes]
rs6862253	0.85[ASN][1000 genomes]
rs693725	0.85[ASN][1000 genomes]
rs7719040	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs875459	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs395122	MRPS36	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68463600-68465000	Flanking Active TSS	HUVEC	blood vessel
2	chr5:68463600-68465600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr5:68463600-68468800	Weak transcription	Aorta	Aorta
4	chr5:68463600-68470000	Weak transcription	Ovary	ovary
5	chr5:68463800-68465000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:68463800-68465400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:68463800-68465600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:68463800-68465600	Transcr. at gene 5' and 3'	Hela-S3	cervix
9	chr5:68463800-68470800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:68463800-68484400	Weak transcription	Adipose Nuclei	Adipose
11	chr5:68463800-68484400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:68463800-68484400	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:68464000-68466800	Weak transcription	Right Ventricle	heart
14	chr5:68464000-68467000	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:68464000-68467200	Weak transcription	Brain Anterior Caudate	brain
16	chr5:68464000-68467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:68464000-68468000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:68464000-68469000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:68464000-68470000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:68464000-68470000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:68464000-68470000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:68464000-68470000	Weak transcription	Placenta	Placenta
23	chr5:68464000-68470000	Weak transcription	Spleen	Spleen
24	chr5:68464000-68470200	Weak transcription	Brain Substantia Nigra	brain
25	chr5:68464000-68470200	Weak transcription	Lung	lung
26	chr5:68464000-68470800	Weak transcription	Liver	Liver
27	chr5:68464000-68470800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:68464000-68471000	Weak transcription	Brain Angular Gyrus	brain
29	chr5:68464000-68472800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:68464000-68473000	Weak transcription	Esophagus	oesophagus
31	chr5:68464000-68473400	Weak transcription	Fetal Brain Male	brain
32	chr5:68464000-68475000	Weak transcription	Colonic Mucosa	Colon
33	chr5:68464000-68476200	Weak transcription	Stomach Mucosa	stomach
34	chr5:68464000-68478000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:68464000-68478800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr5:68464000-68484400	Weak transcription	Pancreas	Pancrea
37	chr5:68464000-68484600	Weak transcription	Right Atrium	heart
38	chr5:68464200-68465000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:68464200-68465200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:68464200-68465400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:68464200-68465400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:68464200-68466800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:68464200-68467600	Weak transcription	Primary B cells from cord blood	blood
44	chr5:68464200-68467800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:68464200-68468000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:68464200-68470000	Weak transcription	Gastric	stomach
47	chr5:68464200-68470800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr5:68464200-68470800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:68464200-68471000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr5:68464200-68474000	Strong transcription	H9 Cell Line	embryonic stem cell

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