Variant report

Variant	rs11986577
Chromosome Location	chr8:54932614-54932615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54932312..54937718-chr8:55045869..55049283,5	MCF-7	breast:
2	chr8:54929833..54936668-chr8:55008421..55016367,12	K562	blood:
3	chr8:54931365..54936825-chr8:55013053..55016452,9	MCF-7	breast:
4	chr8:54929135..54934459-chr8:55011274..55016367,7	K562	blood:
5	chr8:54899078..54901303-chr8:54931244..54934045,2	K562	blood:

Variant related genes	Relation type
ENSG00000120992	Chromatin interaction
ENSG00000137547	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10101097	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10113246	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1039926	0.85[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap]
rs10504161	0.85[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap]
rs1050523	1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.94[ASN][1000 genomes]
rs10958396	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10958397	0.85[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap]
rs11783652	0.82[CHB][hapmap]
rs11991952	0.85[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.89[TSI][hapmap]
rs11993367	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11993959	0.85[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap]
rs11994629	1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs11996666	0.96[ASN][1000 genomes]
rs11997954	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12056381	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12114043	0.85[CEU][hapmap];0.81[CHB][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap]
rs12674671	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12676510	0.92[ASN][1000 genomes]
rs12677696	0.89[EUR][1000 genomes]
rs12679542	0.92[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap]
rs16919699	0.81[CHB][hapmap]
rs16919782	0.85[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap]
rs16919784	0.85[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap]
rs1828835	0.82[ASN][1000 genomes]
rs2037068	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2271567	0.87[CHB][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap]
rs2292590	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs2375697	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28494618	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4440612	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4506187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4515510	0.96[ASN][1000 genomes]
rs4737457	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737479	1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.83[ASN][1000 genomes]
rs4737486	0.82[ASN][1000 genomes]
rs4737487	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs4737488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs4738519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4738544	0.81[EUR][1000 genomes]
rs4738556	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738564	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4738586	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57872947	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58387069	0.82[ASN][1000 genomes]
rs58419852	0.82[ASN][1000 genomes]
rs58929175	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58948369	0.81[ASN][1000 genomes]
rs59882028	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60183530	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61271559	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61319412	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6473900	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6473911	0.92[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap]
rs6473914	0.85[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap]
rs6473915	0.85[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap]
rs6983694	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7009781	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7011379	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7011430	0.80[EUR][1000 genomes]
rs7012031	0.93[ASW][hapmap];0.85[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap]
rs72614663	0.96[ASN][1000 genomes]
rs72614664	0.96[ASN][1000 genomes]
rs72614665	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72614666	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72614667	0.82[ASN][1000 genomes]
rs72614668	0.80[ASN][1000 genomes]
rs7463083	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs7463261	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7464767	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7815216	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7842911	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap]
rs9298497	1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs952194	1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap]
rs9643823	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643824	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11986577	MRPL15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54899200-54933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:54900800-54932800	Weak transcription	Fetal Kidney	kidney
3	chr8:54903800-54933000	Weak transcription	Aorta	Aorta
4	chr8:54903800-54933400	Weak transcription	Esophagus	oesophagus
5	chr8:54904000-54933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:54909200-54933000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:54910400-54932800	Weak transcription	Fetal Brain Female	brain
8	chr8:54911000-54932800	Weak transcription	NH-A	brain
9	chr8:54912600-54932800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:54918600-54933400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:54920000-54933400	Weak transcription	Placenta	Placenta
12	chr8:54921000-54932800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:54921200-54933200	Weak transcription	Fetal Intestine Large	intestine
14	chr8:54921600-54933400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:54921800-54933000	Weak transcription	Fetal Stomach	stomach
16	chr8:54922800-54932800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr8:54922800-54933000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:54924200-54933000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:54925000-54933000	Weak transcription	Fetal Thymus	thymus
20	chr8:54925400-54933400	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:54927000-54932800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:54927000-54932800	Weak transcription	HSMMtube	muscle
23	chr8:54927000-54933000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:54927000-54933400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:54927800-54933000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:54928200-54932800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr8:54928200-54933000	Enhancers	Primary B cells from cord blood	blood
28	chr8:54929200-54933600	Weak transcription	Gastric	stomach
29	chr8:54929400-54933200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:54929800-54933000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr8:54930400-54933000	Enhancers	Liver	Liver
32	chr8:54930400-54933000	Enhancers	Colon Smooth Muscle	Colon
33	chr8:54930600-54933000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:54930600-54933000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:54930600-54933000	Weak transcription	Psoas Muscle	Psoas
36	chr8:54930600-54933200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:54930600-54933600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr8:54930800-54932800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:54930800-54933400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:54931000-54933000	Enhancers	Adipose Nuclei	Adipose
41	chr8:54931000-54933200	Enhancers	Brain Hippocampus Middle	brain
42	chr8:54931000-54933200	Enhancers	Thymus	Thymus
43	chr8:54931000-54933400	Enhancers	Brain Cingulate Gyrus	brain
44	chr8:54931000-54933600	Enhancers	Primary hematopoietic stem cells	blood
45	chr8:54931400-54932800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:54931400-54932800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:54931400-54932800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:54931400-54933000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr8:54931600-54933000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr8:54931600-54933200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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