Variant report

Variant	rs7005393
Chromosome Location	chr8:125504256-125504257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125504143..125506439-chr8:125511671..125514041,2	K562	blood:
2	chr8:125502813..125505069-chr8:126010295..126012992,2	MCF-7	breast:
3	chr8:125501973..125504585-chr8:125508196..125511474,3	MCF-7	breast:
4	chr8:125503920..125505666-chr8:125508333..125511021,2	K562	blood:
5	chr8:125503534..125506808-chr8:125536853..125540308,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104549	Chromatin interaction
ENSG00000253513	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10091243	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10092569	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10106292	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11991829	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12542293	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548235	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28725399	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812471	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812472	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812474	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3812475	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3886003	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128468	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4269525	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4269526	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870901	0.80[AMR][1000 genomes]
rs4871498	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470245	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6982197	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6984985	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987343	0.82[EUR][1000 genomes]
rs6993926	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7001480	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7007115	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7009290	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7013683	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7812331	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7812911	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7825599	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827791	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7830506	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[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
rs7005393	TRMT12	Cis_1M	lymphoblastoid	RTeQTL
rs7005393	TRMT12	cis	Whole Blood	GTEx

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	chr8:125489000-125505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:125489000-125541200	Weak transcription	Gastric	stomach
7	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
8	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:125496000-125512600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:125496800-125513200	Weak transcription	Brain Angular Gyrus	brain
12	chr8:125496800-125521200	Weak transcription	Fetal Heart	heart
13	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:125497600-125505200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:125497800-125506200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:125498000-125504400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:125498000-125504600	Strong transcription	Primary T cells from cord blood	blood
18	chr8:125498000-125504600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr8:125498000-125505000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:125498000-125505800	Strong transcription	Dnd41	blood
21	chr8:125498000-125506200	Strong transcription	Fetal Intestine Large	intestine
22	chr8:125498000-125506600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:125498000-125506800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:125498200-125504600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:125498200-125504800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:125498200-125506000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:125498200-125506000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr8:125498200-125507600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:125498200-125508000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:125498400-125506200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:125499000-125513200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:125499000-125537200	Weak transcription	Esophagus	oesophagus
33	chr8:125499200-125515800	Weak transcription	Right Ventricle	heart
34	chr8:125499800-125506000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:125499800-125512600	Weak transcription	Aorta	Aorta
36	chr8:125499800-125515800	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:125500000-125512600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:125500000-125526200	Weak transcription	Colonic Mucosa	Colon
39	chr8:125500000-125538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:125500000-125538400	Weak transcription	Psoas Muscle	Psoas
41	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
42	chr8:125500200-125512600	Weak transcription	NHDF-Ad	bronchial
43	chr8:125500200-125530800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:125500400-125512800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:125500400-125526400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:125500600-125513800	Weak transcription	Fetal Kidney	kidney
47	chr8:125501000-125505600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:125501200-125504400	Strong transcription	Ovary	ovary
49	chr8:125501200-125505200	Strong transcription	Fetal Muscle Leg	muscle
50	chr8:125501200-125505600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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