Variant report

Variant	rs10845249
Chromosome Location	chr12:11094766-11094767
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	GATA2	chr12:11094348-11094827	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr12:11094411-11094789	SH-SY5Y	brain:	n/a	n/a
3	JUND	chr12:11094733-11095440	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
TAS2R14	TF binding region

Extended variants
information (count: 120 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1013311	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10161144	0.86[ASN][1000 genomes]
rs1044682	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1044683	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10492100	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10492101	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10492102	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10772380	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10772383	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10772393	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10772394	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10772396	0.86[ASN][1000 genomes]
rs10845247	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10845250	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845251	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10845252	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845253	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845254	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845255	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10845256	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845258	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845259	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845260	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845261	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845262	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845263	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845264	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845275	0.86[ASN][1000 genomes]
rs10845283	0.80[ASN][1000 genomes]
rs11054069	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11054070	0.90[ASN][1000 genomes]
rs11054082	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11054084	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054088	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054089	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054090	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054092	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054093	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054094	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054095	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054096	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11054097	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054098	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054099	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054101	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054102	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054103	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11054104	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054105	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054106	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054107	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054108	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054109	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054110	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054111	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054112	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054113	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054114	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054115	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054116	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054117	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11054118	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054119	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054120	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054121	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054122	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054123	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054124	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054125	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054131	0.86[ASN][1000 genomes]
rs11054148	0.80[ASN][1000 genomes]
rs11610105	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12367487	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12581501	0.80[ASN][1000 genomes]
rs17743605	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17810798	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2084650	0.86[ASN][1000 genomes]
rs2218820	0.86[ASN][1000 genomes]
rs2418224	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2900554	0.86[ASN][1000 genomes]
rs3851583	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3851586	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3851589	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4132154	0.86[ASN][1000 genomes]
rs4763231	0.89[ASN][1000 genomes]
rs4763232	0.89[ASN][1000 genomes]
rs4763599	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4763602	0.86[ASN][1000 genomes]
rs4763603	0.86[ASN][1000 genomes]
rs61912291	0.80[ASN][1000 genomes]
rs6488332	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7134390	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7134527	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7135018	0.80[ASN][1000 genomes]
rs7136588	0.86[ASN][1000 genomes]
rs7136962	0.86[ASN][1000 genomes]
rs7137212	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7138108	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7138360	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7138535	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7294858	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7295278	0.88[ASN][1000 genomes]
rs7298262	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7302130	0.86[EUR][1000 genomes]
rs7302227	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7303183	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7305795	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7308469	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7308576	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7308933	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7312169	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7314608	0.89[ASN][1000 genomes]
rs7398041	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7979199	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv898777	chr12:11045512-11129433	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv832330	chr12:11077678-11206957	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10845249	RP11-434C1.1	cis	lung	GTEx
rs10845249	RP11-434C1.1	cis	Heart Left Ventricle	GTEx
rs10845249	PRR4	cis	Muscle Skeletal	GTEx
rs10845249	PRR4	cis	Heart Left Ventricle	GTEx
rs10845249	RP11-434C1.1	cis	Nerve Tibial	GTEx
rs10845249	PRR4	cis	Thyroid	GTEx
rs10845249	PRR4	cis	lung	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11033800-11101600	Weak transcription	Ovary	ovary
2	chr12:11069200-11094800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:11078400-11095800	Weak transcription	Primary B cells from cord blood	blood
4	chr12:11080000-11095000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:11080000-11101600	Weak transcription	Left Ventricle	heart
6	chr12:11080400-11095400	Weak transcription	Psoas Muscle	Psoas
7	chr12:11082000-11101000	Weak transcription	Primary T cells from cord blood	blood
8	chr12:11082200-11094800	Weak transcription	HepG2	liver
9	chr12:11089600-11094800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:11091400-11095600	Enhancers	NHEK	skin
11	chr12:11091600-11095600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:11091600-11095800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:11091600-11095800	Enhancers	HMEC	breast
14	chr12:11092800-11095000	Weak transcription	GM12878-XiMat	blood
15	chr12:11093000-11095400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:11093800-11094800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:11094200-11095400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr12:11094400-11094800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:11094400-11095400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:11094400-11095600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:11094400-11096000	Enhancers	Dnd41	blood
22	chr12:11094600-11095200	Enhancers	Esophagus	oesophagus
23	chr12:11094600-11095400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:11094600-11095400	Enhancers	NH-A	brain
25	chr12:11094600-11095600	Enhancers	A549	lung
26	chr12:11094600-11095600	Enhancers	K562	blood
27	chr12:11094600-11095800	Enhancers	Fetal Thymus	thymus
28	chr12:11094600-11096000	Enhancers	Hela-S3	cervix

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