Variant report

Variant	rs10956184
Chromosome Location	chr8:125467788-125467789
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52521882..52524435-chr8:125467415..125469932,2	MCF-7	breast:
2	chr8:125458853..125460594-chr8:125466039..125468256,2	K562	blood:
3	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245149	Chromatin interaction
ENSG00000170881	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10956185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956189	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11556913	0.96[ASN][1000 genomes]
rs12542260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12544211	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12544621	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12545267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12546906	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12548836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12550707	0.81[EUR][1000 genomes]
rs12550827	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4128469	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4512366	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4551335	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4602869	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4870898	0.80[EUR][1000 genomes]
rs5004281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56942034	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57941917	0.92[AMR][1000 genomes]
rs62527880	0.81[EUR][1000 genomes]
rs62527883	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62527884	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62527886	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62527901	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62527908	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62527910	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6987213	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6987358	0.81[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7009847	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713049	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7830325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7834203	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7836802	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7845008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	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
4	nsv891430	chr8:125431030-125485027	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv891431	chr8:125437811-125485027	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv891432	chr8:125438093-125485027	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10956184	TRMT12	cis	Whole Blood	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125463800-125483800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:125464000-125474600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr8:125464000-125484800	Weak transcription	Aorta	Aorta
4	chr8:125464000-125485000	Weak transcription	Fetal Kidney	kidney
5	chr8:125464400-125479600	Weak transcription	Fetal Intestine Large	intestine
6	chr8:125464600-125467800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:125464600-125467800	Weak transcription	Brain Substantia Nigra	brain
8	chr8:125464600-125468000	Weak transcription	Placenta	Placenta
9	chr8:125464600-125468200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:125464600-125469400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:125464600-125470000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:125464600-125470600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:125464600-125473200	Weak transcription	Right Atrium	heart
14	chr8:125464600-125474200	Weak transcription	Fetal Intestine Small	intestine
15	chr8:125464600-125474400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:125464600-125475600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:125464600-125477600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:125464600-125478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:125464600-125478600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:125464600-125483200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:125464600-125484600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:125464600-125485200	Weak transcription	Colonic Mucosa	Colon
23	chr8:125464600-125485800	Weak transcription	Esophagus	oesophagus
24	chr8:125464600-125486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:125464800-125468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:125464800-125472000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:125464800-125475600	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:125464800-125478400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:125464800-125478600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:125464800-125484600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:125464800-125484800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:125464800-125485400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:125465000-125467800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:125465000-125474400	Weak transcription	Brain Germinal Matrix	brain
35	chr8:125465000-125475200	Weak transcription	Fetal Thymus	thymus
36	chr8:125465000-125475400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr8:125465000-125476600	Weak transcription	Osteobl	bone
38	chr8:125465000-125477600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:125465000-125477800	Weak transcription	NH-A	brain
40	chr8:125465000-125478600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:125465000-125479000	Weak transcription	HUVEC	blood vessel
42	chr8:125465000-125484400	Weak transcription	NHLF	lung
43	chr8:125465000-125485400	Weak transcription	Gastric	stomach
44	chr8:125465200-125467800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:125465200-125468800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:125465200-125471400	Weak transcription	Fetal Stomach	stomach
47	chr8:125465200-125472200	Weak transcription	Stomach Mucosa	stomach
48	chr8:125465200-125474600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr8:125465200-125477000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:125465200-125477600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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