Variant report

Variant	rs13276295
Chromosome Location	chr8:125518857-125518858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125485559..125487740-chr8:125517609..125520546,3	MCF-7	breast:
2	chr8:125484977..125488762-chr8:125516872..125524765,8	MCF-7	breast:
3	chr8:125500685..125503615-chr8:125517583..125520355,2	K562	blood:
4	chr8:125511432..125513995-chr8:125518857..125520463,2	MCF-7	breast:
5	chr8:125515035..125519543-chr8:125547357..125551225,5	MCF-7	breast:
6	chr8:125512614..125515579-chr8:125518268..125520554,3	K562	blood:

Variant related genes	Relation type
ENSG00000253106	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10505446	1.00[CHB][hapmap]
rs1131024	0.86[CEU][hapmap];0.91[GIH][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13250890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13254054	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13263130	1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13264071	1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13269215	0.86[CEU][hapmap];0.91[GIH][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16899667	0.85[YRI][hapmap]
rs16899702	1.00[CHB][hapmap]
rs16899745	1.00[CHB][hapmap]
rs16899786	1.00[CHB][hapmap]
rs17298010	1.00[CEU][hapmap];0.83[GIH][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34008273	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34115246	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34681068	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34684627	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34714561	0.82[EUR][1000 genomes]
rs35005670	0.81[EUR][1000 genomes]
rs35135081	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35309726	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35419095	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4301438	1.00[CHB][hapmap]
rs4358788	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4457314	1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4535724	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4540394	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010902	0.86[CEU][hapmap];0.91[GIH][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7813473	0.93[AMR][1000 genomes];0.96[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13276295	TRMT12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:125489000-125541200	Weak transcription	Gastric	stomach
5	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
6	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:125496800-125521200	Weak transcription	Fetal Heart	heart
9	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:125499000-125537200	Weak transcription	Esophagus	oesophagus
11	chr8:125500000-125526200	Weak transcription	Colonic Mucosa	Colon
12	chr8:125500000-125538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:125500000-125538400	Weak transcription	Psoas Muscle	Psoas
14	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
15	chr8:125500200-125530800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:125500400-125526400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:125501600-125524600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:125501600-125535000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:125504000-125521200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:125504000-125524800	Weak transcription	Pancreas	Pancrea
22	chr8:125504000-125525000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:125504000-125525800	Weak transcription	NHLF	lung
24	chr8:125504000-125550800	Weak transcription	Spleen	Spleen
25	chr8:125505800-125538600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:125506000-125538600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr8:125507600-125522000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:125508400-125532200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:125510200-125536800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:125510400-125536200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:125510800-125532200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:125511600-125536400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:125512000-125536000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:125512200-125528000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:125512200-125530400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:125512200-125531600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:125512400-125519800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:125512400-125521800	Strong transcription	Fetal Thymus	thymus
39	chr8:125512400-125522000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:125512400-125522600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:125512400-125528200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr8:125512400-125535800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:125512400-125536400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:125512600-125520000	Strong transcription	Fetal Muscle Leg	muscle
45	chr8:125512600-125522400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:125512600-125522600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:125512600-125531600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:125512600-125533800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr8:125512600-125535600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr8:125512800-125532200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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