Variant report

Variant	rs163442
Chromosome Location	chr5:68463606-68463607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68461458..68463761-chr5:68512888..68515184,2	MCF-7	breast:
2	chr5:68452033..68456569-chr5:68461553..68463610,4	K562	blood:
3	chr5:68461460..68464018-chr5:68483608..68486992,6	MCF-7	breast:
4	chr5:68462470..68464043-chr5:68472593..68475057,3	MCF-7	breast:
5	chr5:68461677..68464671-chr5:68665186..68667008,2	MCF-7	breast:
6	chr5:68461899..68464283-chr5:68662357..68663862,2	K562	blood:
7	chr5:68337387..68340209-chr5:68463465..68465141,2	K562	blood:
8	chr5:68462643..68465474-chr5:68512138..68513918,2	K562	blood:
9	chr5:68461057..68464340-chr5:68513596..68515366,3	K562	blood:
10	chr5:68461424..68464982-chr5:68663773..68666998,5	K562	blood:
11	chr5:68463334..68467714-chr5:68469560..68473881,5	MCF-7	breast:
12	chr5:68387785..68391337-chr5:68461261..68464730,5	K562	blood:
13	chr5:68463301..68465130-chr5:68476296..68477877,2	MCF-7	breast:
14	chr5:68462671..68465247-chr5:68664046..68666511,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153044	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000265968	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000238334	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000250237	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];0.97[ASN][1000 genomes]
rs11742461	0.85[ASN][1000 genomes]
rs11744596	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11745578	0.85[ASN][1000 genomes]
rs12659146	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13175606	0.85[ASN][1000 genomes]
rs151589	0.85[ASN][1000 genomes]
rs163443	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs163444	0.85[ASN][1000 genomes]
rs164386	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164388	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs164389	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs164390	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164715	0.85[ASN][1000 genomes]
rs1650779	0.81[ASN][1000 genomes]
rs1683831	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs184747	0.85[ASN][1000 genomes]
rs2002825	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242351	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs239591	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[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];0.94[ASN][1000 genomes]
rs2637129	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28506805	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28576332	0.85[ASN][1000 genomes]
rs28693971	0.85[ASN][1000 genomes]
rs2913707	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2930944	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2930945	0.82[ASN][1000 genomes]
rs2930946	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932767	0.80[ASN][1000 genomes]
rs2932770	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932771	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[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];0.94[ASN][1000 genomes]
rs2932778	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932780	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2932783	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2972358	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972373	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972374	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972390	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34845020	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs350093	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[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];0.94[ASN][1000 genomes]
rs350099	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350105	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs350107	0.85[ASN][1000 genomes]
rs350109	0.84[ASN][1000 genomes]
rs350115	0.85[ASN][1000 genomes]
rs350119	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs350120	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs350123	0.83[ASN][1000 genomes]
rs350124	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs350125	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs351424	0.81[ASN][1000 genomes]
rs352626	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs353656	0.84[ASN][1000 genomes]
rs375285	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs376768	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs379106	0.81[ASN][1000 genomes]
rs379434	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs386640	0.85[ASN][1000 genomes]
rs389686	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs389938	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs390169	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs395122	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs419902	0.85[ASN][1000 genomes]
rs437665	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs444305	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs476125	0.96[ASN][1000 genomes]
rs4976159	0.86[ASN][1000 genomes]
rs4976188	0.86[ASN][1000 genomes]
rs648489	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs651076	0.82[ASN][1000 genomes]
rs6862253	0.84[ASN][1000 genomes]
rs693725	0.85[ASN][1000 genomes]
rs7719040	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs875459	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[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
rs163442	MRPS36	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68461600-68464000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:68462000-68463800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:68462000-68463800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr5:68462200-68463800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:68462200-68463800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:68462200-68463800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:68462200-68463800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:68462200-68464200	Active TSS	Fetal Kidney	kidney
9	chr5:68462400-68463800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr5:68462400-68463800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr5:68462400-68463800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr5:68462400-68463800	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr5:68462400-68463800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr5:68462400-68463800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:68462400-68463800	Flanking Active TSS	Liver	Liver
16	chr5:68462400-68463800	Active TSS	Fetal Intestine Large	intestine
17	chr5:68462400-68463800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr5:68462400-68463800	Active TSS	HSMMtube	muscle
19	chr5:68462400-68464000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:68462400-68464000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr5:68462400-68464000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr5:68462400-68464200	Active TSS	Small Intestine	intestine
23	chr5:68462400-68464400	Active TSS	Rectal Smooth Muscle	rectum
24	chr5:68462600-68463800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr5:68462600-68463800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:68462600-68463800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:68462600-68463800	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr5:68462600-68463800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:68462600-68463800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:68462600-68463800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:68462600-68463800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:68462600-68463800	Active TSS	Placenta Amnion	Placenta Amnion
33	chr5:68462600-68463800	Active TSS	Right Atrium	heart
34	chr5:68462600-68463800	Active TSS	Osteobl	bone
35	chr5:68462600-68464000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr5:68462600-68464000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr5:68462600-68464000	Active TSS	NHDF-Ad	bronchial
38	chr5:68462600-68464200	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr5:68462600-68464200	Active TSS	HepG2	liver
40	chr5:68462800-68463800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:68462800-68463800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:68462800-68463800	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr5:68462800-68463800	Active TSS	GM12878-XiMat	blood
44	chr5:68462800-68463800	Active TSS	HMEC	breast
45	chr5:68462800-68463800	Active TSS	HSMM	muscle
46	chr5:68462800-68463800	Active TSS	NH-A	brain
47	chr5:68462800-68464000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:68462800-68464000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:68462800-68464000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:68462800-68464000	Active TSS	Muscle Satellite Cultured Cells	--

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