Variant report

Variant	rs11169367
Chromosome Location	chr12:50697905-50697906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:50697887-50698524	HCT-116	colon:	n/a	chr12:50698225-50698233 chr12:50698223-50698234 chr12:50698255-50698266 chr12:50698258-50698265 chr12:50698257-50698265 chr12:50698256-50698266 chr12:50698221-50698232 chr12:50698223-50698235
2	CEBPB	chr12:50697896-50698522	HCT-116	colon:	n/a	n/a
3	FOSL2	chr12:50697904-50698499	A549	lung:	n/a	chr12:50698225-50698233 chr12:50698258-50698265 chr12:50698257-50698265 chr12:50698256-50698266 chr12:50698221-50698232 chr12:50698223-50698235
4	ZNF384	chr12:50697378-50697909	K562	blood:	n/a	n/a
5	TBP	chr12:50697494-50698209	K562	blood:	n/a	n/a
6	RPC155	chr12:50697377-50698091	K562	blood:	n/a	n/a
7	FOSL1	chr12:50697902-50698529	HCT-116	colon:	n/a	chr12:50698225-50698233 chr12:50698258-50698265 chr12:50698257-50698265 chr12:50698256-50698266 chr12:50698221-50698232 chr12:50698223-50698235
8	SP1	chr12:50697891-50698545	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000203428	TF binding region

Extended variants
information (count: 148 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10467106	0.85[ASN][1000 genomes]
rs10506292	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10783344	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10783349	0.88[EUR][1000 genomes]
rs10783350	0.86[EUR][1000 genomes]
rs10783352	0.84[ASN][1000 genomes]
rs10783353	0.91[ASN][1000 genomes]
rs10876013	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876014	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876015	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876016	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876017	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876018	0.86[EUR][1000 genomes]
rs10876023	0.92[ASN][1000 genomes]
rs10876028	0.92[ASN][1000 genomes]
rs11169314	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169315	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169317	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169319	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169322	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169331	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169332	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169335	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169339	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169345	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169347	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169348	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169349	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169350	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169351	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169357	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169359	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169360	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169369	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169370	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169371	0.87[EUR][1000 genomes]
rs11169373	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169374	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169375	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169376	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169377	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169379	0.86[EUR][1000 genomes]
rs11169386	0.84[EUR][1000 genomes]
rs11169390	0.92[ASN][1000 genomes]
rs11169391	0.91[ASN][1000 genomes]
rs11169395	0.91[ASN][1000 genomes]
rs11836169	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838347	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12299669	0.87[ASN][1000 genomes]
rs12299758	0.91[ASN][1000 genomes]
rs12303082	0.92[ASN][1000 genomes]
rs12312177	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12422417	0.92[ASN][1000 genomes]
rs12424691	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12424713	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12424876	0.91[ASN][1000 genomes]
rs12425229	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12425705	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12426444	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12811291	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12814094	0.92[ASN][1000 genomes]
rs12821454	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12821504	0.83[EUR][1000 genomes]
rs12823506	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12828340	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12832940	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1362983	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17124562	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1972611	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1984993	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2009072	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2111988	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2302900	0.82[EUR][1000 genomes]
rs2358539	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28628775	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34039674	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34614542	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34825838	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34849043	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34858415	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34894919	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35209607	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35535298	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35663729	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35768991	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35878271	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35933908	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36017775	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3812825	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3861100	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4348979	0.92[ASN][1000 genomes]
rs4421818	0.92[ASN][1000 genomes]
rs4445717	0.84[ASN][1000 genomes]
rs4768855	0.91[ASN][1000 genomes]
rs4768872	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768949	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768951	0.84[EUR][1000 genomes]
rs6580735	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580736	0.89[EUR][1000 genomes]
rs6580737	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6580738	0.89[EUR][1000 genomes]
rs6580739	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580740	0.87[EUR][1000 genomes]
rs6580741	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580743	0.89[ASN][1000 genomes]
rs67138019	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7132551	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7135777	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71465002	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7295847	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7296291	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7301186	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7301189	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7302363	0.92[ASN][1000 genomes]
rs7304445	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305995	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308095	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7308885	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7310541	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311378	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7311491	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7311973	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7312252	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7314465	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7315871	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7315955	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7399343	0.86[EUR][1000 genomes]
rs7485486	0.88[EUR][1000 genomes]
rs7486747	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7488682	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7489214	0.86[EUR][1000 genomes]
rs7953953	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7956468	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7971374	0.83[ASN][1000 genomes]
rs7972824	0.88[ASN][1000 genomes]
rs7974648	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7979830	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7980911	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9668187	0.91[ASN][1000 genomes]
rs9705460	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9739363	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv702	chr12:50670870-50715934	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11169367	ATF1	cis	Artery Tibial	GTEx
rs11169367	CERS5	cis	Nerve Tibial	GTEx
rs11169367	DIP2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50678000-50699800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:50678400-50708600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:50678600-50698800	Weak transcription	Pancreas	Pancrea
4	chr12:50679800-50708600	Weak transcription	Liver	Liver
5	chr12:50686000-50699000	Weak transcription	Primary T cells from cord blood	blood
6	chr12:50687000-50705600	Weak transcription	HSMMtube	muscle
7	chr12:50690000-50711800	Weak transcription	Ovary	ovary
8	chr12:50691800-50703400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:50692000-50719800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:50692400-50708800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:50693600-50722800	Weak transcription	Fetal Intestine Small	intestine
12	chr12:50696000-50698200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:50696000-50698400	Enhancers	NHDF-Ad	bronchial
14	chr12:50696000-50699000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:50696600-50698000	Enhancers	A549	lung
16	chr12:50696600-50698200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:50696600-50698400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:50696800-50698200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:50697000-50698000	Weak transcription	HSMM	muscle
20	chr12:50697200-50705600	Weak transcription	NHLF	lung
21	chr12:50697200-50707200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:50697600-50698400	Enhancers	K562	blood
23	chr12:50697800-50698400	Enhancers	Osteobl	bone
24	chr12:50697800-50698600	Enhancers	Muscle Satellite Cultured Cells	--

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