Variant report

Variant	rs11991829
Chromosome Location	chr8:125555785-125555786
allele	C/T
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:4)
LncRNA
region (count:1)
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	chr8:125555715-125556137	K562	blood:	n/a	n/a
2	POLR2A	chr8:125555325-125556130	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:125554491-125558052	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125485971..125490407-chr8:125553790..125556730,4	MCF-7	breast:
2	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:
3	chr8:125555421..125558150-chr8:125568034..125570566,2	MCF-7	breast:
4	chr8:125520394..125523282-chr8:125554552..125556147,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TATDN1-2	chr8:125555507-125555843	l_3676_chr8:125549055-125555843_ovary

No data

Variant related genes	Relation type
TATDN1	TF binding region
NDUFB9	TF binding region
ENSG00000253513	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000170881	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10091243	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10092569	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106292	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12542293	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12548235	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28725399	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3812471	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3812472	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3812474	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3812475	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3886003	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4128468	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4269525	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4269526	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4870901	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4871498	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871499	0.83[EUR][1000 genomes]
rs6470245	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6982197	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6984985	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6987343	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6993926	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7001480	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7005393	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7007115	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7009290	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7013683	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7812331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7812911	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7825599	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7827791	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830506	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[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
rs11991829	TRMT12	cis	Whole Blood	GTEx
rs11991829	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	chr8:125552000-125557400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125552200-125565200	Weak transcription	Small Intestine	intestine
3	chr8:125552200-125565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:125552200-125568600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:125552600-125556400	Weak transcription	Stomach Mucosa	stomach
6	chr8:125553000-125558800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr8:125553200-125555800	Weak transcription	HMEC	breast
8	chr8:125553200-125556400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:125553400-125556000	Weak transcription	Psoas Muscle	Psoas
10	chr8:125553400-125557200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:125553400-125568000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:125553400-125568200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:125553400-125575200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:125553400-125575200	Strong transcription	Fetal Muscle Leg	muscle
15	chr8:125553600-125556400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:125553600-125566400	Strong transcription	A549	lung
17	chr8:125553600-125566800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:125553800-125556000	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr8:125553800-125556000	Strong transcription	Fetal Intestine Small	intestine
20	chr8:125553800-125557800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:125553800-125575400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
23	chr8:125554000-125556200	Strong transcription	Fetal Stomach	stomach
24	chr8:125554000-125572400	Strong transcription	Thymus	Thymus
25	chr8:125554000-125574000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:125554200-125556400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:125554200-125556800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:125554200-125566800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:125554200-125568600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:125554200-125570000	Strong transcription	Fetal Thymus	thymus
31	chr8:125554200-125576200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:125554400-125555800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:125554400-125556000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:125554400-125556200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:125554400-125556800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr8:125554400-125558200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:125554400-125560200	Strong transcription	Osteobl	bone
38	chr8:125554400-125560600	Strong transcription	Fetal Lung	lung
39	chr8:125554400-125561000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:125554400-125567400	Strong transcription	Colon Smooth Muscle	Colon
41	chr8:125554400-125568200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr8:125554400-125568400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:125554400-125569000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:125554400-125574200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr8:125554400-125575400	Strong transcription	Primary B cells from cord blood	blood
46	chr8:125554400-125576200	Strong transcription	Fetal Intestine Large	intestine
47	chr8:125554600-125555800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr8:125554600-125556000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:125554600-125556000	Genic enhancers	Monocytes-CD14+_RO01746	blood
50	chr8:125554600-125556200	Strong transcription	Lung	lung

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