Variant report

Variant	rs12677696
Chromosome Location	chr8:54907243-54907244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54906501..54909723-chr8:54910534..54914290,4	K562	blood:
2	chr8:54906664..54908319-chr8:54924524..54927230,2	MCF-7	breast:
3	chr8:54906019..54908425-chr8:54912790..54915264,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10101097	0.81[EUR][1000 genomes]
rs10113246	0.89[EUR][1000 genomes]
rs1050523	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11986577	0.89[EUR][1000 genomes]
rs11993367	0.82[EUR][1000 genomes]
rs11996666	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11997954	0.92[EUR][1000 genomes]
rs12056381	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12674671	0.92[EUR][1000 genomes]
rs12676510	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2037068	0.82[EUR][1000 genomes]
rs2375697	0.89[AMR][1000 genomes]
rs28494618	0.92[EUR][1000 genomes]
rs4440612	0.84[EUR][1000 genomes]
rs4506187	0.85[EUR][1000 genomes]
rs4515510	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4737457	0.85[EUR][1000 genomes]
rs4738544	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4738556	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4738564	0.86[EUR][1000 genomes]
rs4738586	0.86[EUR][1000 genomes]
rs57872947	0.86[AMR][1000 genomes]
rs58929175	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59882028	0.89[AMR][1000 genomes]
rs61319412	0.92[EUR][1000 genomes]
rs6473900	0.96[EUR][1000 genomes]
rs7009781	0.88[EUR][1000 genomes]
rs72614663	0.83[AMR][1000 genomes]
rs72614664	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72614665	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7463261	0.83[AMR][1000 genomes]
rs7464767	0.94[EUR][1000 genomes]
rs7815216	0.87[EUR][1000 genomes]
rs9298497	0.87[AMR][1000 genomes]
rs9643823	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9643824	0.87[EUR][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
rs12677696	MRPL15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
2	chr8:54876400-54908600	Weak transcription	Psoas Muscle	Psoas
3	chr8:54880400-54916000	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:54880800-54916000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:54881200-54912200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:54882600-54912600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:54887800-54912600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:54887800-54915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:54888000-54915400	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr8:54888200-54912400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:54889000-54910400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:54890200-54912600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:54890600-54912600	Strong transcription	Fetal Thymus	thymus
14	chr8:54890600-54912800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:54891000-54911600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:54892000-54911600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr8:54892200-54932400	Weak transcription	Stomach Mucosa	stomach
18	chr8:54893000-54907800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:54893200-54911800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:54894200-54910400	Strong transcription	Fetal Intestine Small	intestine
21	chr8:54895200-54912600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:54895200-54913800	Strong transcription	Dnd41	blood
23	chr8:54895800-54908800	Strong transcription	Fetal Muscle Leg	muscle
24	chr8:54896000-54909800	Strong transcription	Fetal Stomach	stomach
25	chr8:54897800-54914000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr8:54898400-54908000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:54898400-54911800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr8:54898400-54913400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:54898400-54915600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:54898800-54914400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:54899000-54908200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:54899000-54912200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:54899000-54914400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr8:54899000-54915400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:54899000-54916000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:54899000-54916600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:54899000-54916600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:54899200-54933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:54899800-54918200	Weak transcription	Small Intestine	intestine
40	chr8:54899800-54932200	Weak transcription	Brain Substantia Nigra	brain
41	chr8:54900000-54907800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:54900000-54908400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:54900000-54908600	Weak transcription	Fetal Heart	heart
44	chr8:54900000-54910400	Weak transcription	NH-A	brain
45	chr8:54900600-54908600	Weak transcription	NHDF-Ad	bronchial
46	chr8:54900600-54922000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr8:54900800-54910000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:54900800-54910000	Weak transcription	NHLF	lung
49	chr8:54900800-54913400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:54900800-54928400	Weak transcription	Brain Cingulate Gyrus	brain

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