Variant report

Variant	rs62527883
Chromosome Location	chr8:125482913-125482914
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125482676-125483356	K562	blood:	n/a	n/a
2	POLR2A	chr8:125482745-125483120	K562	blood:	n/a	n/a
3	POLR2A	chr8:125478436-125489342	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
2	chr8:125472502..125474578-chr8:125482316..125484294,2	K562	blood:
3	chr8:125459763..125466594-chr8:125480347..125488760,16	K562	blood:
4	chr8:125480277..125483193-chr8:125562791..125565125,2	MCF-7	breast:
5	chr8:125459763..125466513-chr8:125482159..125488968,22	K562	blood:
6	chr8:125482257..125483957-chr8:125549259..125552139,2	K562	blood:
7	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:

No data

Variant related genes	Relation type
RNF139	TF binding region
ENSG00000147684	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000147687	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10956184	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956189	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11556913	0.92[ASN][1000 genomes]
rs12542260	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12544211	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12544621	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12545267	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12546906	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12548836	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12550707	0.83[EUR][1000 genomes]
rs12550827	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4128469	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4512366	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4551335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4602869	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4870898	0.82[EUR][1000 genomes]
rs5004281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56942034	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57941917	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62527880	0.82[EUR][1000 genomes]
rs62527884	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62527886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62527901	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62527908	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62527910	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6987213	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6987358	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7009847	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72713049	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7826104	0.81[EUR][1000 genomes]
rs7830325	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7834203	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7836802	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7845008	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[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	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv891430	chr8:125431030-125485027	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
4	nsv891431	chr8:125437811-125485027	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv891432	chr8:125438093-125485027	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62527883	TRMT12	cis	Whole Blood	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125463800-125483800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:125464000-125484800	Weak transcription	Aorta	Aorta
3	chr8:125464000-125485000	Weak transcription	Fetal Kidney	kidney
4	chr8:125464600-125483200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:125464600-125484600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:125464600-125485200	Weak transcription	Colonic Mucosa	Colon
7	chr8:125464600-125485800	Weak transcription	Esophagus	oesophagus
8	chr8:125464600-125486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:125464800-125484600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:125464800-125484800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:125464800-125485400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:125465000-125484400	Weak transcription	NHLF	lung
13	chr8:125465000-125485400	Weak transcription	Gastric	stomach
14	chr8:125465200-125483000	Weak transcription	Fetal Brain Male	brain
15	chr8:125465200-125483200	Weak transcription	Fetal Lung	lung
16	chr8:125465600-125484200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:125465600-125484600	Weak transcription	HMEC	breast
18	chr8:125465600-125485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:125466000-125485400	Weak transcription	Lung	lung
20	chr8:125466200-125484600	Weak transcription	Right Ventricle	heart
21	chr8:125466400-125483000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:125466400-125483000	Weak transcription	Brain Anterior Caudate	brain
23	chr8:125466400-125483200	Weak transcription	Spleen	Spleen
24	chr8:125466400-125484000	Weak transcription	Ovary	ovary
25	chr8:125466400-125484600	Weak transcription	A549	lung
26	chr8:125466400-125484800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:125466400-125484800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:125466600-125484000	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:125467200-125484400	Weak transcription	Thymus	Thymus
30	chr8:125467200-125484600	Weak transcription	Brain Angular Gyrus	brain
31	chr8:125467200-125484600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:125467200-125485400	Weak transcription	Left Ventricle	heart
33	chr8:125468000-125483000	Weak transcription	Hela-S3	cervix
34	chr8:125468400-125483800	Weak transcription	NHEK	skin
35	chr8:125468400-125485200	Weak transcription	Brain Substantia Nigra	brain
36	chr8:125469800-125484000	Weak transcription	Placenta	Placenta
37	chr8:125473400-125485200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:125473600-125484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:125474800-125483000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr8:125475000-125483000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:125475000-125483400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:125475400-125483600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:125475600-125483000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:125476000-125483800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:125476000-125483800	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:125476000-125484600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:125476400-125483200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr8:125477200-125484000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:125477400-125483800	Weak transcription	Fetal Thymus	thymus
50	chr8:125477600-125483400	Weak transcription	Adipose Nuclei	Adipose

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