Variant report

Variant	rs6473913
Chromosome Location	chr8:55050740-55050741
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54932275..54935937-chr8:55049392..55052839,3	MCF-7	breast:
2	chr8:55048621..55051389-chr8:55064149..55065674,2	MCF-7	breast:
3	chr8:55045967..55049288-chr8:55050352..55053333,3	MCF-7	breast:
4	chr8:55046961..55051250-chr8:55057827..55066628,8	K562	blood:
5	chr8:54933199..54936650-chr8:55046856..55051256,7	K562	blood:

Variant related genes	Relation type
ENSG00000187735	Chromatin interaction
ENSG00000137547	Chromatin interaction
ENSG00000251835	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10216491	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1039926	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10504161	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10958397	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11984645	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11984672	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11991952	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11993959	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11996128	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12114043	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12114739	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12679103	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12679542	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681024	0.82[EUR][1000 genomes]
rs13261058	0.80[EUR][1000 genomes]
rs13276927	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13277185	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919782	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16919784	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2008122	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271567	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292589	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292590	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2375696	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28573859	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34168614	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34997387	0.94[ASN][1000 genomes]
rs4737487	0.92[EUR][1000 genomes]
rs4737488	0.92[EUR][1000 genomes]
rs4738678	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60183530	0.90[EUR][1000 genomes]
rs61213253	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61271559	0.90[EUR][1000 genomes]
rs61477279	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6473909	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6473911	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473914	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6473915	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983694	0.90[EUR][1000 genomes]
rs7011379	0.88[EUR][1000 genomes]
rs7011430	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7012031	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71517558	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72614666	0.90[EUR][1000 genomes]
rs72614670	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72614671	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7830051	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842911	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs952194	0.83[ASN][1000 genomes]
rs981638	0.82[EUR][1000 genomes];0.85[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	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	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
5	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
rs6473913	MRPL15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55048200-55055400	Weak transcription	Spleen	Spleen
2	chr8:55048400-55055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:55048400-55055200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:55048400-55055600	Weak transcription	Gastric	stomach
5	chr8:55048400-55056200	Weak transcription	Small Intestine	intestine
6	chr8:55048600-55051000	Weak transcription	Ovary	ovary
7	chr8:55048600-55053600	Weak transcription	HSMMtube	muscle
8	chr8:55048600-55055200	Weak transcription	Brain Substantia Nigra	brain
9	chr8:55048600-55055400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:55048600-55055400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:55048600-55055400	Weak transcription	Colonic Mucosa	Colon
12	chr8:55048600-55056000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:55048600-55056200	Weak transcription	Aorta	Aorta
14	chr8:55048600-55065600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:55048600-55066200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:55048800-55056200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:55048800-55063200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:55049000-55051600	Strong transcription	Fetal Thymus	thymus
19	chr8:55049000-55052200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:55049000-55055200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:55049000-55055600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:55049000-55056000	Weak transcription	Brain Angular Gyrus	brain
23	chr8:55049000-55056000	Weak transcription	Stomach Mucosa	stomach
24	chr8:55049000-55057600	Weak transcription	Psoas Muscle	Psoas
25	chr8:55049000-55061800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:55049000-55062000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:55049000-55065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:55049200-55050800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr8:55049200-55050800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:55049200-55051000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:55049200-55051200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:55049200-55051600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:55049200-55052200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:55049200-55053800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:55049200-55054200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr8:55049200-55055200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:55049200-55055200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:55049200-55055400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr8:55049200-55055400	Weak transcription	Right Ventricle	heart
40	chr8:55049200-55055600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:55049200-55055800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:55049200-55056200	Weak transcription	Fetal Brain Male	brain
43	chr8:55049200-55056400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr8:55049200-55061600	Strong transcription	Osteobl	bone
45	chr8:55049200-55063800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:55049200-55063800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr8:55049200-55064000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:55049200-55064000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:55049200-55064000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:55049200-55064000	Strong transcription	Fetal Intestine Large	intestine

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