Variant report

Variant	rs163443
Chromosome Location	chr5:68464234-68464235
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68461677..68464671-chr5:68665186..68667008,2	MCF-7	breast:
2	chr5:68461899..68464283-chr5:68662357..68663862,2	K562	blood:
3	chr5:68337387..68340209-chr5:68463465..68465141,2	K562	blood:
4	chr5:68462643..68465474-chr5:68512138..68513918,2	K562	blood:
5	chr5:68461057..68464340-chr5:68513596..68515366,3	K562	blood:
6	chr5:68461424..68464982-chr5:68663773..68666998,5	K562	blood:
7	chr5:68463334..68467714-chr5:68469560..68473881,5	MCF-7	breast:
8	chr5:68387785..68391337-chr5:68461261..68464730,5	K562	blood:
9	chr5:68463301..68465130-chr5:68476296..68477877,2	MCF-7	breast:
10	chr5:68462671..68465247-chr5:68664046..68666511,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134057	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000238334	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000250237	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000152942	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs100192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];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	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs151589	0.85[ASN][1000 genomes]
rs163442	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs163444	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs164386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs164388	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164389	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164390	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[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	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs184747	0.85[ASN][1000 genomes]
rs1976101	0.81[CHB][hapmap]
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	0.90[CHB][hapmap];0.90[JPT][hapmap];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	0.91[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	0.89[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]
rs350092	0.80[CHB][hapmap]
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	1.00[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	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs350109	0.84[ASN][1000 genomes]
rs350115	0.85[ASN][1000 genomes]
rs350119	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs350120	1.00[CEU][hapmap];0.90[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	0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs352626	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[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	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs376768	0.94[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	0.94[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[ASW][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs389938	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs390169	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs395122	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419902	0.85[ASN][1000 genomes]
rs437665	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs444305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs651076	0.90[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6862253	0.85[ASN][1000 genomes]
rs693725	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7719040	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs875459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs163443	MRPS36	cis	multi-tissue	Pritchard
rs163443	MRPS36	cis	lymphoblastoid	seeQTL
rs163443	MRPS36	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68462400-68464400	Active TSS	Rectal Smooth Muscle	rectum
2	chr5:68463200-68464600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:68463200-68464600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr5:68463400-68464400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:68463400-68464400	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr5:68463600-68464600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:68463600-68464600	Flanking Active TSS	Fetal Heart	heart
8	chr5:68463600-68464800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:68463600-68464800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
10	chr5:68463600-68464800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
11	chr5:68463600-68464800	Transcr. at gene 5' and 3'	A549	lung
12	chr5:68463600-68464800	Transcr. at gene 5' and 3'	K562	blood
13	chr5:68463600-68464800	Transcr. at gene 5' and 3'	NHEK	skin
14	chr5:68463600-68465000	Flanking Active TSS	HUVEC	blood vessel
15	chr5:68463600-68465600	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr5:68463600-68468800	Weak transcription	Aorta	Aorta
17	chr5:68463600-68470000	Weak transcription	Ovary	ovary
18	chr5:68463800-68464400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:68463800-68464400	Enhancers	Primary B cells from peripheral blood	blood
20	chr5:68463800-68464400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr5:68463800-68464400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr5:68463800-68464400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr5:68463800-68464400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:68463800-68464400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:68463800-68464400	Flanking Active TSS	NH-A	brain
26	chr5:68463800-68464600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
27	chr5:68463800-68464600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:68463800-68464600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:68463800-68464600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr5:68463800-68464600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
31	chr5:68463800-68464600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr5:68463800-68464800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
33	chr5:68463800-68464800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:68463800-68464800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
35	chr5:68463800-68464800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
36	chr5:68463800-68464800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
37	chr5:68463800-68464800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:68463800-68464800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:68463800-68465000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:68463800-68465400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:68463800-68465600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr5:68463800-68465600	Transcr. at gene 5' and 3'	Hela-S3	cervix
43	chr5:68463800-68470800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:68463800-68484400	Weak transcription	Adipose Nuclei	Adipose
45	chr5:68463800-68484400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr5:68463800-68484400	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:68464000-68464400	Active TSS	Brain Germinal Matrix	brain
48	chr5:68464000-68464400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr5:68464000-68464400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
50	chr5:68464000-68464400	Enhancers	Placenta Amnion	Placenta Amnion

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