Variant report

Variant	rs8033118
Chromosome Location	chr15:57492693-57492694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57489296..57493196-chr15:57493593..57496438,4	K562	blood:
2	chr15:57489288..57492189-chr15:57492368..57494008,2	MCF-7	breast:
3	chr15:57491334..57495003-chr15:57497716..57500211,4	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10518899	0.98[ASN][1000 genomes]
rs11071309	0.81[EUR][1000 genomes]
rs11632069	0.82[EUR][1000 genomes]
rs11633061	0.82[EUR][1000 genomes]
rs11856055	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12050751	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12050758	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12898356	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12904602	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12906335	0.82[EUR][1000 genomes]
rs12910556	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12910832	0.81[EUR][1000 genomes]
rs12911518	0.95[ASN][1000 genomes]
rs12912210	0.81[EUR][1000 genomes]
rs12912392	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12916478	0.96[ASN][1000 genomes]
rs1462156	0.96[ASN][1000 genomes]
rs16977306	0.85[AFR][1000 genomes]
rs2414497	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2703596	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2733341	0.91[EUR][1000 genomes]
rs4774250	0.82[EUR][1000 genomes]
rs4774913	0.82[EUR][1000 genomes]
rs7163126	0.85[AFR][1000 genomes]
rs7179311	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8033118	TCF12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57444400-57507400	Weak transcription	K562	blood
2	chr15:57453800-57524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:57457200-57499400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:57458200-57505200	Strong transcription	Fetal Thymus	thymus
5	chr15:57477000-57492800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:57478200-57493200	Weak transcription	HepG2	liver
7	chr15:57478600-57494000	Weak transcription	Pancreas	Pancrea
8	chr15:57478800-57526200	Weak transcription	Hela-S3	cervix
9	chr15:57479400-57524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:57481800-57524600	Weak transcription	Right Ventricle	heart
11	chr15:57483000-57493800	Weak transcription	Colonic Mucosa	Colon
12	chr15:57484600-57493200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:57484800-57496200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:57484800-57502000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr15:57485000-57501000	Weak transcription	Spleen	Spleen
16	chr15:57485000-57501800	Weak transcription	Lung	lung
17	chr15:57485000-57506200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr15:57485600-57505000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:57485800-57493600	Weak transcription	A549	lung
20	chr15:57486600-57493400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:57486600-57496000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:57486800-57493000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:57486800-57505800	Weak transcription	NHDF-Ad	bronchial
24	chr15:57487000-57496600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:57487000-57524400	Weak transcription	Placenta	Placenta
26	chr15:57487200-57503000	Weak transcription	Liver	Liver
27	chr15:57487200-57511200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr15:57488200-57511600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr15:57488400-57494000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:57488400-57496000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:57488400-57496000	Weak transcription	Fetal Intestine Small	intestine
32	chr15:57489200-57496000	Weak transcription	Osteobl	bone
33	chr15:57489200-57506000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:57489400-57506200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:57489800-57493400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr15:57489800-57494200	Strong transcription	Dnd41	blood
37	chr15:57490200-57494400	Enhancers	Brain Hippocampus Middle	brain
38	chr15:57490600-57505800	Weak transcription	NH-A	brain
39	chr15:57490800-57496400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:57491000-57493800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr15:57491000-57495000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr15:57491000-57501400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr15:57491000-57505600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:57491000-57506000	Weak transcription	HMEC	breast
45	chr15:57491200-57508000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:57491400-57492800	Weak transcription	Brain Angular Gyrus	brain
47	chr15:57491400-57493000	Weak transcription	HSMM	muscle
48	chr15:57491400-57493200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr15:57491400-57493600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr15:57491400-57493600	Weak transcription	Stomach Mucosa	stomach

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