Variant report

Variant	rs352626
Chromosome Location	chr5:68462203-68462204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:68462182-68464879	SK-N-SH	brain:	n/a	chr5:68462851-68462866
2	HCFC1	chr5:68462189-68463535	Hela-S3	cervix:	n/a	n/a
3	RFX5	chr5:68462171-68463315	IMR90	lung:	n/a	n/a
4	POLR2A	chr5:68461951-68464229	GM12891	blood:	n/a	n/a
5	IRF1	chr5:68462182-68463270	K562	blood:	n/a	chr5:68462411-68462420 chr5:68462821-68462835 chr5:68462560-68462574
6	RFX5	chr5:68461829-68464062	SK-N-SH	brain:	n/a	chr5:68463363-68463379
7	NR2F2	chr5:68462121-68463319	K562	blood:	n/a	n/a
8	IRF1	chr5:68462169-68463193	K562	blood:	n/a	chr5:68462411-68462420 chr5:68462821-68462835 chr5:68462560-68462574
9	POLR2A	chr5:68462152-68463961	GM12878	blood:	n/a	n/a
10	MXI1	chr5:68461948-68464340	IMR90	lung:	n/a	chr5:68462851-68462866
11	MAZ	chr5:68462135-68463216	GM12878	blood:	n/a	chr5:68462376-68462386 chr5:68462778-68462789 chr5:68462778-68462789 chr5:68462778-68462787
12	NRF1	chr5:68462109-68463196	SK-N-SH	brain:	n/a	chr5:68462757-68462771 chr5:68462760-68462774 chr5:68462760-68462771 chr5:68462760-68462771

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	chr5:68461677..68464671-chr5:68665186..68667008,2	MCF-7	breast:
5	chr5:68461899..68464283-chr5:68662357..68663862,2	K562	blood:
6	chr5:68461057..68464340-chr5:68513596..68515366,3	K562	blood:
7	chr5:68461424..68464982-chr5:68663773..68666998,5	K562	blood:
8	chr5:68387785..68391337-chr5:68461261..68464730,5	K562	blood:

Variant related genes	Relation type
CCNB1	TF binding region
ENSG00000085231	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000265968	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000153044	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs100192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];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	0.95[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];1.00[ASN][1000 genomes]
rs163443	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]
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];1.00[ASN][1000 genomes]
rs164388	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs164389	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs164390	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[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];1.00[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];0.96[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	0.90[CHB][hapmap];0.90[JPT][hapmap];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	0.91[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	0.89[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	1.00[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	0.95[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];0.96[ASN][1000 genomes]
rs350120	1.00[CEU][hapmap];0.90[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	0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[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];0.97[ASN][1000 genomes]
rs376768	0.94[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	0.94[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	0.88[ASW][hapmap];0.95[CHB][hapmap];0.88[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];0.96[ASN][1000 genomes]
rs389938	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs390169	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs395122	0.98[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	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.96[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];0.96[ASN][1000 genomes]
rs476125	0.96[ASN][1000 genomes]
rs4976159	0.86[ASN][1000 genomes]
rs4976188	0.86[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];0.97[ASN][1000 genomes]
rs651076	0.90[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6862253	0.84[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];0.97[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];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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs352626	MRPS36	cis	lymphoblastoid	seeQTL
rs352626	MRPS36	cis	multi-tissue	Pritchard
rs352626	MRPS36	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68459400-68462400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:68461600-68464000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:68461800-68462400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr5:68461800-68462400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:68461800-68462400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr5:68461800-68462400	Enhancers	Right Atrium	heart
7	chr5:68461800-68462600	Enhancers	Lung	lung
8	chr5:68461800-68462600	Enhancers	Pancreas	Pancrea
9	chr5:68461800-68462800	Flanking Active TSS	Dnd41	blood
10	chr5:68462000-68462400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr5:68462000-68462400	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr5:68462000-68462600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr5:68462000-68462600	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr5:68462000-68463600	Active TSS	Fetal Lung	lung
15	chr5:68462000-68463800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr5:68462000-68463800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr5:68462200-68462400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:68462200-68462400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:68462200-68462400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:68462200-68462400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:68462200-68462400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:68462200-68462400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:68462200-68462400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr5:68462200-68462400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:68462200-68462400	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:68462200-68462400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:68462200-68462400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:68462200-68462400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr5:68462200-68462400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:68462200-68462400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:68462200-68462400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr5:68462200-68462400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:68462200-68462400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:68462200-68462400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr5:68462200-68462400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:68462200-68462400	Active TSS	Liver	Liver
37	chr5:68462200-68462400	Enhancers	Duodenum Mucosa	Duodenum
38	chr5:68462200-68462400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr5:68462200-68462400	Enhancers	Fetal Brain Male	brain
40	chr5:68462200-68462400	Enhancers	Fetal Intestine Large	intestine
41	chr5:68462200-68462400	Enhancers	Fetal Intestine Small	intestine
42	chr5:68462200-68462400	Enhancers	Fetal Muscle Leg	muscle
43	chr5:68462200-68462400	Enhancers	Placenta	Placenta
44	chr5:68462200-68462400	Enhancers	Fetal Stomach	stomach
45	chr5:68462200-68462400	Enhancers	Fetal Thymus	thymus
46	chr5:68462200-68462400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:68462200-68462400	Active TSS	Stomach Smooth Muscle	stomach
48	chr5:68462200-68462400	Active TSS	GM12878-XiMat	blood
49	chr5:68462200-68462400	Enhancers	HMEC	breast
50	chr5:68462200-68462400	Enhancers	HSMM	muscle

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