Variant report

Variant	rs60077733
Chromosome Location	chr7:97970137-97970138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs1076272	0.88[EUR][1000 genomes]
rs10808107	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10953255	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10953256	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10953257	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1132971	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11760930	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11761158	0.84[EUR][1000 genomes]
rs11761206	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11765794	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11766808	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12112351	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12154723	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12667634	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12671301	0.83[EUR][1000 genomes]
rs12672092	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12673586	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12704982	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12704983	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12704988	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12704989	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12728	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12873	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13232181	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13237102	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13238610	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13245076	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13246725	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13246843	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13246868	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13246942	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13307593	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1468338	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1468340	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1468341	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1859482	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2107716	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2158553	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2240349	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2286074	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2394852	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2394854	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34129434	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34534766	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34695842	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34717219	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34776142	0.81[EUR][1000 genomes]
rs34830366	0.81[EUR][1000 genomes]
rs34835415	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35216698	0.81[EUR][1000 genomes]
rs35535338	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35941058	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35944487	0.83[EUR][1000 genomes]
rs35997266	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36017146	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36019673	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36099592	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3779193	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3779194	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3801251	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3801254	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3801255	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3801256	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3801257	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3801263	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3801264	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3823740	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4075057	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55825602	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56286037	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62478174	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62478175	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62478200	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62478203	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62478233	0.91[EUR][1000 genomes]
rs62478236	0.80[EUR][1000 genomes]
rs62478237	0.84[EUR][1000 genomes]
rs62479853	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6465662	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6465663	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6465664	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6465665	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6465666	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6465667	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6465669	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6465670	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6465671	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6465672	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6465673	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6465675	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6465677	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6465678	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6465680	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6465681	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6465682	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6465683	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66548074	0.83[EUR][1000 genomes]
rs67132564	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6944262	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6945554	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6947208	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6947340	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6948346	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6948540	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6949214	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6949718	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6955647	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6956686	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6959506	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6961129	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6961438	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6961790	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6963210	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6967457	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6967576	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6967934	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6968144	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6968193	0.84[EUR][1000 genomes]
rs6968321	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6969234	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6969731	0.85[EUR][1000 genomes]
rs6970801	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6970990	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6971825	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6971915	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6973775	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6974943	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6975156	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6979373	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71563562	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73147342	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs736753	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs736754	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7458551	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7776638	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7777415	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7781916	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7785612	0.84[EUR][1000 genomes]
rs7787418	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7787858	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7789380	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7790229	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7791321	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7794612	0.84[EUR][1000 genomes]
rs7795176	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7796611	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7797943	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7801992	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7802382	0.81[EUR][1000 genomes]
rs7802541	0.84[EUR][1000 genomes]
rs7802560	0.81[EUR][1000 genomes]
rs7802794	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7803372	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7805267	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7806524	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7806739	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7807455	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7807555	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7812180	0.97[EUR][1000 genomes]
rs9648907	0.83[EUR][1000 genomes]
rs9648908	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9769767	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs60077733	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL
rs60077733	DKFZP434B0335	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97944800-97983400	Weak transcription	HepG2	liver
2	chr7:97949400-97972200	Weak transcription	Liver	Liver
3	chr7:97952000-97971800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:97952200-97972400	Weak transcription	Pancreas	Pancrea
5	chr7:97953000-97971600	Weak transcription	Stomach Mucosa	stomach
6	chr7:97953200-97978000	Weak transcription	Lung	lung
7	chr7:97953200-97978200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:97953800-97989800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:97954000-97980400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:97954400-97983800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:97956600-97970600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:97958800-97981400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr7:97960200-97978400	Weak transcription	Fetal Stomach	stomach
14	chr7:97963600-97970200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:97965400-97972800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:97966800-97983800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:97967800-97970200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:97968000-97970200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:97968000-97982000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:97968200-97978200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:97968400-97983600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:97968800-97972400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:97969200-97970800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:97969200-97973000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:97969200-97978000	Weak transcription	Gastric	stomach
26	chr7:97969200-97978000	Weak transcription	Hela-S3	cervix
27	chr7:97969200-97980600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:97969200-97981400	Weak transcription	Fetal Intestine Large	intestine
29	chr7:97969200-97981800	Weak transcription	Colonic Mucosa	Colon
30	chr7:97969400-97970600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:97969400-97972600	Weak transcription	Fetal Intestine Small	intestine
32	chr7:97969400-97975800	Weak transcription	GM12878-XiMat	blood
33	chr7:97969400-97978000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:97969400-97978000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:97969400-97978000	Weak transcription	Esophagus	oesophagus
36	chr7:97969400-97978000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:97969400-97978000	Weak transcription	NHEK	skin
38	chr7:97969400-97979200	Weak transcription	HMEC	breast
39	chr7:97969800-97971200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:97970000-97971000	Enhancers	A549	lung
41	chr7:97970000-97971200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:97970000-97971200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:97970000-97971200	Enhancers	NHDF-Ad	bronchial
44	chr7:97970000-97971200	Enhancers	Osteobl	bone

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