Variant report

Variant	rs163444
Chromosome Location	chr5:68464544-68464545
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 130 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs100192	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10063757	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10940209	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10940210	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10940212	0.81[ASN][1000 genomes]
rs10940216	0.81[ASN][1000 genomes]
rs11744596	0.83[ASN][1000 genomes]
rs11748974	0.88[ASN][1000 genomes]
rs12659146	0.83[ASN][1000 genomes]
rs13175606	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151589	0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163442	0.85[ASN][1000 genomes]
rs163443	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs164386	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs164388	0.85[ASN][1000 genomes]
rs164389	0.83[ASN][1000 genomes]
rs164390	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs164709	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs164715	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164789	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1650779	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1683831	0.82[ASN][1000 genomes]
rs171212	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs184747	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976103	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2002825	0.83[ASN][1000 genomes]
rs2130757	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2171148	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2172056	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2242350	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2242351	0.83[ASN][1000 genomes]
rs2291519	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2291520	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2450230	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2450246	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2637128	0.82[ASN][1000 genomes]
rs28506805	0.82[ASN][1000 genomes]
rs28602964	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28768211	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2930944	0.83[ASN][1000 genomes]
rs2930945	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2930946	0.83[ASN][1000 genomes]
rs2930949	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2930951	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932767	0.93[ASN][1000 genomes]
rs2932770	0.83[ASN][1000 genomes]
rs2932771	0.83[ASN][1000 genomes]
rs2932772	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932773	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932775	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932776	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932777	0.83[ASN][1000 genomes]
rs2932778	0.82[ASN][1000 genomes]
rs2932782	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972358	0.83[ASN][1000 genomes]
rs2972361	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972366	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972373	0.83[ASN][1000 genomes]
rs2972374	0.83[ASN][1000 genomes]
rs2972377	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2972378	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2972381	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972386	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972387	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972388	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972390	0.83[ASN][1000 genomes]
rs34845020	0.81[ASN][1000 genomes]
rs34893396	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34935424	0.84[ASN][1000 genomes]
rs350095	0.81[ASN][1000 genomes]
rs350099	0.85[ASN][1000 genomes]
rs350104	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs350105	0.82[ASN][1000 genomes]
rs350106	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs350107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350109	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs350115	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350116	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs350119	0.84[ASN][1000 genomes]
rs350120	0.85[ASN][1000 genomes]
rs350122	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs350123	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs350124	0.83[ASN][1000 genomes]
rs350125	0.81[ASN][1000 genomes]
rs351424	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[ASN][1000 genomes]
rs352626	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs35308484	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs353656	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs375285	0.85[ASN][1000 genomes]
rs376768	0.85[ASN][1000 genomes]
rs379106	0.96[ASN][1000 genomes]
rs379434	0.85[ASN][1000 genomes]
rs386640	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389686	0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs389938	0.85[ASN][1000 genomes]
rs390169	0.80[ASN][1000 genomes]
rs3934528	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs395122	0.85[ASN][1000 genomes]
rs4077460	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs419902	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426392	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4266362	0.90[ASN][1000 genomes]
rs4362903	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs437665	0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs4421064	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs444305	0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4541612	0.89[ASN][1000 genomes]
rs4629549	0.92[ASN][1000 genomes]
rs476125	0.82[ASN][1000 genomes]
rs488498	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4976189	0.84[ASN][1000 genomes]
rs603029	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62373164	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6450026	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6450027	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6450029	0.84[ASN][1000 genomes]
rs648489	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs651076	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs676012	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs676879	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6866993	0.92[ASN][1000 genomes]
rs6873869	0.84[ASN][1000 genomes]
rs6876783	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs693725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719040	0.85[ASN][1000 genomes]
rs7733556	0.92[ASN][1000 genomes]
rs875459	0.95[CHB][hapmap];0.84[JPT][hapmap];0.85[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs163444	MRPS36	Cis_1M	lymphoblastoid	RTeQTL
rs163444	CCDC125	cis	lung	GTEx
rs163444	CCDC125	cis	Skin Sun Exposed Lower leg	GTEx
rs163444	MRPS36	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68463200-68464600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:68463200-68464600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:68463600-68464600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:68463600-68464600	Flanking Active TSS	Fetal Heart	heart
5	chr5:68463600-68464800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:68463600-68464800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
7	chr5:68463600-68464800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
8	chr5:68463600-68464800	Transcr. at gene 5' and 3'	A549	lung
9	chr5:68463600-68464800	Transcr. at gene 5' and 3'	K562	blood
10	chr5:68463600-68464800	Transcr. at gene 5' and 3'	NHEK	skin
11	chr5:68463600-68465000	Flanking Active TSS	HUVEC	blood vessel
12	chr5:68463600-68465600	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr5:68463600-68468800	Weak transcription	Aorta	Aorta
14	chr5:68463600-68470000	Weak transcription	Ovary	ovary
15	chr5:68463800-68464600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
16	chr5:68463800-68464600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:68463800-68464600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:68463800-68464600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:68463800-68464600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
20	chr5:68463800-68464600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr5:68463800-68464800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
22	chr5:68463800-68464800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:68463800-68464800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
24	chr5:68463800-68464800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
25	chr5:68463800-68464800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
26	chr5:68463800-68464800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:68463800-68464800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:68463800-68465000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:68463800-68465400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:68463800-68465600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:68463800-68465600	Transcr. at gene 5' and 3'	Hela-S3	cervix
32	chr5:68463800-68470800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:68463800-68484400	Weak transcription	Adipose Nuclei	Adipose
34	chr5:68463800-68484400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:68463800-68484400	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:68464000-68464600	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
37	chr5:68464000-68464600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:68464000-68464600	Transcr. at gene 5' and 3'	Fetal Lung	lung
39	chr5:68464000-68464600	Enhancers	Fetal Stomach	stomach
40	chr5:68464000-68464600	Transcr. at gene 5' and 3'	HSMM	muscle
41	chr5:68464000-68464600	Enhancers	HSMMtube	muscle
42	chr5:68464000-68464600	Transcr. at gene 5' and 3'	Osteobl	bone
43	chr5:68464000-68464800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr5:68464000-68464800	Enhancers	Fetal Intestine Large	intestine
45	chr5:68464000-68464800	Active TSS	NHLF	lung
46	chr5:68464000-68466800	Weak transcription	Right Ventricle	heart
47	chr5:68464000-68467000	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:68464000-68467200	Weak transcription	Brain Anterior Caudate	brain
49	chr5:68464000-68467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:68464000-68468000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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