Variant report

Variant	rs7001480
Chromosome Location	chr8:125537456-125537457
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125476818..125478783-chr8:125536249..125538761,2	MCF-7	breast:
2	chr8:125503534..125506808-chr8:125536853..125540308,3	MCF-7	breast:
3	chr8:125530085..125533438-chr8:125536669..125540173,3	K562	blood:
4	chr8:125458668..125465446-chr8:125536808..125541745,7	MCF-7	breast:
5	chr8:125485755..125491202-chr8:125535208..125540184,8	MCF-7	breast:
6	chr8:125532738..125534576-chr8:125536572..125538281,2	MCF-7	breast:
7	chr8:125484651..125489587-chr8:125535041..125543731,11	K562	blood:
8	chr8:125462290..125464614-chr8:125536394..125538277,2	MCF-7	breast:
9	chr8:125536647..125538430-chr8:125826419..125828604,2	K562	blood:
10	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
11	chr8:125490684..125492193-chr8:125536653..125538429,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245149	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000147687	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	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10092569	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10106292	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11987932	0.81[EUR][1000 genomes]
rs11991829	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12542293	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12548235	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28725399	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3812471	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3812472	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3812474	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3812475	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3886003	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4128468	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4269525	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4269526	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871498	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470245	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6982197	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6984985	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6987343	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6993926	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7005393	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7007115	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7009290	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7013683	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7812331	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7812911	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7825599	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7827791	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7830506	0.95[EUR][1000 genomes];0.90[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
rs7001480	TRMT12	cis	Whole Blood	GTEx
rs7001480	TRMT12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125489000-125541200	Weak transcription	Gastric	stomach
3	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
4	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:125500000-125538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:125500000-125538400	Weak transcription	Psoas Muscle	Psoas
9	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
10	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:125504000-125550800	Weak transcription	Spleen	Spleen
12	chr8:125505800-125538600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:125506000-125538600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:125516200-125543600	Weak transcription	Aorta	Aorta
15	chr8:125516200-125549600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:125516200-125549600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:125516400-125549600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:125519200-125550000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:125520000-125550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:125525200-125549600	Weak transcription	Brain Germinal Matrix	brain
21	chr8:125526600-125541000	Weak transcription	Colonic Mucosa	Colon
22	chr8:125527200-125539600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:125527400-125541000	Weak transcription	Fetal Heart	heart
24	chr8:125527600-125537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:125527600-125550200	Weak transcription	Fetal Brain Female	brain
26	chr8:125528000-125550400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:125529200-125539600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:125529200-125543600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:125529200-125544000	Weak transcription	Fetal Stomach	stomach
30	chr8:125529400-125539600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:125529400-125543200	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:125531400-125541200	Weak transcription	Hela-S3	cervix
33	chr8:125531400-125542600	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:125531400-125547400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:125531400-125550000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:125531600-125538000	Weak transcription	Primary B cells from cord blood	blood
37	chr8:125531600-125538400	Weak transcription	Fetal Intestine Large	intestine
38	chr8:125531600-125538600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr8:125531600-125543400	Weak transcription	Fetal Thymus	thymus
40	chr8:125531600-125543600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:125531600-125544200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:125531600-125548400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:125531600-125550000	Weak transcription	Fetal Lung	lung
44	chr8:125531800-125541200	Weak transcription	Left Ventricle	heart
45	chr8:125532000-125537800	Weak transcription	HMEC	breast
46	chr8:125532000-125543000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:125532000-125544000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:125532200-125537600	Weak transcription	NHEK	skin
49	chr8:125532200-125538200	Weak transcription	Liver	Liver
50	chr8:125532200-125538600	Weak transcription	Fetal Kidney	kidney

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