Variant report

Variant	rs6984985
Chromosome Location	chr8:125511370-125511371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125511364..125513292-chr8:125514743..125517456,3	K562	blood:
2	chr8:125501973..125504585-chr8:125508196..125511474,3	MCF-7	breast:
3	chr8:125507542..125509103-chr8:125511076..125513358,2	K562	blood:
4	chr8:125508019..125510781-chr8:125511010..125514154,3	K562	blood:
5	chr8:125510460..125512236-chr8:125521124..125522762,2	MCF-7	breast:
6	chr8:125508901..125512759-chr8:125549220..125552859,5	MCF-7	breast:
7	chr8:125507846..125511903-chr8:125516482..125518821,3	MCF-7	breast:
8	chr8:125508750..125511884-chr8:125514732..125517114,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10091243	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10092569	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10106292	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11987932	0.83[EUR][1000 genomes]
rs11991829	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12542293	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548235	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28725399	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812471	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812472	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812474	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3812475	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3886003	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128468	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4269525	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4269526	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870901	0.84[AMR][1000 genomes]
rs4871498	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470243	0.80[EUR][1000 genomes]
rs6470245	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6982197	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6987343	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6993926	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7001480	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7005393	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007115	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7009290	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7013683	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7812331	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7812911	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7825599	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827791	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7830506	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6984985	TRMT12	cis	Whole Blood	GTEx
rs6984985	TRMT12	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125515800	Weak transcription	Lung	lung
2	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:125489000-125541200	Weak transcription	Gastric	stomach
6	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
7	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:125496000-125512600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:125496800-125513200	Weak transcription	Brain Angular Gyrus	brain
11	chr8:125496800-125521200	Weak transcription	Fetal Heart	heart
12	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:125499000-125513200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:125499000-125537200	Weak transcription	Esophagus	oesophagus
15	chr8:125499200-125515800	Weak transcription	Right Ventricle	heart
16	chr8:125499800-125512600	Weak transcription	Aorta	Aorta
17	chr8:125499800-125515800	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:125500000-125512600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:125500000-125526200	Weak transcription	Colonic Mucosa	Colon
20	chr8:125500000-125538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:125500000-125538400	Weak transcription	Psoas Muscle	Psoas
22	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
23	chr8:125500200-125512600	Weak transcription	NHDF-Ad	bronchial
24	chr8:125500200-125530800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:125500400-125512800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:125500400-125526400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:125500600-125513800	Weak transcription	Fetal Kidney	kidney
28	chr8:125501600-125514800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:125501600-125514800	Weak transcription	GM12878-XiMat	blood
30	chr8:125501600-125516000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:125501600-125524600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:125501600-125535000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:125501800-125514800	Weak transcription	HUVEC	blood vessel
35	chr8:125502000-125513200	Weak transcription	Left Ventricle	heart
36	chr8:125502000-125515800	Weak transcription	HSMMtube	muscle
37	chr8:125502400-125512600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:125502400-125514800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:125502600-125514000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:125503800-125513200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:125503800-125513200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:125503800-125514800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:125503800-125514800	Weak transcription	Brain Anterior Caudate	brain
44	chr8:125503800-125515800	Weak transcription	Thymus	Thymus
45	chr8:125503800-125518800	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:125504000-125512400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:125504000-125512400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:125504000-125512400	Weak transcription	Fetal Thymus	thymus
49	chr8:125504000-125512600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:125504000-125512800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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