Variant report

Variant	rs6473911
Chromosome Location	chr8:55048922-55048923
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr8:55048876-55049000	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:55046948-55049384	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr8:55047084-55050513	K562	blood:	n/a	n/a
4	POLR2A	chr8:55046853-55049272	GM12891	blood:	n/a	n/a
5	TBL1XR1	chr8:55048583-55048969	K562	blood:	n/a	n/a
6	POLR2A	chr8:55047400-55048996	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr8:55048920-55048929	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr8:55046856-55049193	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:55047028-55050378	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr8:55047034-55049117	K562	blood:	n/a	n/a
11	POLR2A	chr8:55047062-55049033	Raji	blood:	n/a	n/a
12	POLR2A	chr8:55048154-55049201	PFSK-1	brain:	n/a	n/a
13	MXI1	chr8:55048833-55048946	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:54933199..54936694-chr8:55047814..55049965,3	K562	blood:
2	chr8:54792772..54795313-chr8:55047110..55049629,2	MCF-7	breast:
3	chr8:55048621..55051389-chr8:55064149..55065674,2	MCF-7	breast:
4	chr8:55013205..55015046-chr8:55046385..55049225,2	MCF-7	breast:
5	chr8:54932312..54937718-chr8:55045869..55049283,5	MCF-7	breast:
6	chr8:55046961..55051250-chr8:55057827..55066628,8	K562	blood:
7	chr8:55012759..55014929-chr8:55046340..55050101,4	K562	blood:
8	chr8:54933199..54936650-chr8:55046856..55051256,7	K562	blood:
9	chr8:55012569..55016203-chr8:55046168..55049938,7	MCF-7	breast:

No data

Variant related genes	Relation type
MRPL15	TF binding region
ENSG00000187735	Chromatin interaction
ENSG00000147509	Chromatin interaction
ENSG00000120992	Chromatin interaction
ENSG00000251835	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10216491	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1039926	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10504161	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1050523	0.87[CHB][hapmap]
rs10958396	0.87[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs10958397	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11984645	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11984672	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11986577	0.92[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap]
rs11991952	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11993959	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11994629	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs11996128	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12114043	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12114739	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12679103	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12679542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681024	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13261058	0.83[EUR][1000 genomes]
rs13276927	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13277185	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919782	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16919784	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2008122	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292589	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2375696	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28573859	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34168614	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34997387	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4440612	0.84[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs4506187	0.86[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs4737479	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs4737487	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4737488	0.86[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4738519	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs4738678	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60183530	0.92[EUR][1000 genomes]
rs61213253	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61271559	0.92[EUR][1000 genomes]
rs61477279	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6473909	0.92[EUR][1000 genomes]
rs6473913	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473914	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6473915	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983694	0.92[EUR][1000 genomes]
rs7011379	0.91[EUR][1000 genomes]
rs7011430	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7012031	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71517558	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72614666	0.92[EUR][1000 genomes]
rs72614668	0.81[EUR][1000 genomes]
rs72614670	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72614671	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7463083	0.92[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs7464767	0.85[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs7830051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842911	0.92[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9298497	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs952194	0.87[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs981638	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6473911	MRPL15	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55047000-55049000	Active TSS	Psoas Muscle	Psoas
2	chr8:55047200-55049000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:55047200-55049000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr8:55047200-55049000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:55047400-55049000	Active TSS	Placenta Amnion	Placenta Amnion
6	chr8:55047400-55049000	Active TSS	Right Atrium	heart
7	chr8:55047400-55049200	Active TSS	Right Ventricle	heart
8	chr8:55047600-55049000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:55047600-55049000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:55047600-55049000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:55047600-55049200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr8:55047600-55049800	Active TSS	GM12878-XiMat	blood
13	chr8:55047800-55049000	Active TSS	Fetal Brain Male	brain
14	chr8:55048000-55049200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:55048200-55055400	Weak transcription	Spleen	Spleen
16	chr8:55048400-55049000	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr8:55048400-55049000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:55048400-55049000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:55048400-55049000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr8:55048400-55049000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr8:55048400-55049000	Flanking Active TSS	Dnd41	blood
22	chr8:55048400-55049000	Flanking Active TSS	Osteobl	bone
23	chr8:55048400-55049200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:55048400-55049800	Weak transcription	Esophagus	oesophagus
25	chr8:55048400-55049800	Weak transcription	Lung	lung
26	chr8:55048400-55049800	Weak transcription	Pancreas	Pancrea
27	chr8:55048400-55050000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:55048400-55055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:55048400-55055200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:55048400-55055600	Weak transcription	Gastric	stomach
31	chr8:55048400-55056200	Weak transcription	Small Intestine	intestine
32	chr8:55048600-55049000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr8:55048600-55049000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr8:55048600-55049000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr8:55048600-55049000	Enhancers	Primary B cells from peripheral blood	blood
36	chr8:55048600-55049000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr8:55048600-55049000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:55048600-55049000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr8:55048600-55049000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:55048600-55049000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr8:55048600-55049000	Enhancers	Stomach Mucosa	stomach
42	chr8:55048600-55049200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr8:55048600-55049200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:55048600-55049200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:55048600-55049200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr8:55048600-55049200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr8:55048600-55049200	Enhancers	Thymus	Thymus
48	chr8:55048600-55049400	Weak transcription	Placenta	Placenta
49	chr8:55048600-55049600	Weak transcription	Fetal Stomach	stomach
50	chr8:55048600-55049600	Weak transcription	Left Ventricle	heart

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