Variant report

Variant	rs60677263
Chromosome Location	chr11:75513888-75513889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75511055..75516378-chr11:75524946..75527964,8	MCF-7	breast:
2	chr11:75512671..75516260-chr11:75524397..75526274,3	MCF-7	breast:
3	chr11:75478711..75481665-chr11:75512333..75514833,3	MCF-7	breast:
4	chr11:75505538..75510533-chr11:75511527..75514992,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062282	Chromatin interaction
ENSG00000198382	Chromatin interaction
ENSG00000255507	Chromatin interaction
ENSG00000247867	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1017713	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10219339	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793124	0.88[ASN][1000 genomes]
rs10793125	0.88[ASN][1000 genomes]
rs10793126	0.88[ASN][1000 genomes]
rs10793127	0.94[ASN][1000 genomes]
rs10793132	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793133	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793135	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10899105	0.81[ASN][1000 genomes]
rs10899109	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10899110	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10899113	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10899116	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10899118	0.87[EUR][1000 genomes]
rs10899119	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899120	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899121	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899122	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899123	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899127	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899128	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899129	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899131	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899132	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899133	0.97[ASN][1000 genomes]
rs10899134	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899135	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899136	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899137	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899138	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899139	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899140	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899141	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899142	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899144	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899145	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236507	0.80[ASN][1000 genomes]
rs11236508	0.81[ASN][1000 genomes]
rs11236509	0.81[ASN][1000 genomes]
rs11236511	0.82[ASN][1000 genomes]
rs11236514	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236515	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236516	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236517	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11236518	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236519	0.94[ASN][1000 genomes]
rs11236527	0.94[ASN][1000 genomes]
rs11236528	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11236530	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236531	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236533	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236534	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236537	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236538	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236539	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236540	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236542	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236543	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236545	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236546	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236549	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236551	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236552	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236553	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236554	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236555	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11236564	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11501918	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11821808	0.88[ASN][1000 genomes]
rs11822903	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11823869	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222542	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222995	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223234	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12224062	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12278224	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12278257	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12280456	0.81[ASN][1000 genomes]
rs12285853	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1458836	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17134394	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2008476	0.94[ASN][1000 genomes]
rs2168947	0.90[EUR][1000 genomes]
rs3060	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3740849	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3740850	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58340821	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58411334	0.94[ASN][1000 genomes]
rs60692776	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592615	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66784596	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67233017	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67268976	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7101806	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7106736	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7107742	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7108178	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7110517	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7118039	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7118293	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7118569	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7122123	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7126727	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7128716	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72995678	0.81[ASN][1000 genomes]
rs72997616	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72997623	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72997677	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7933235	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7937642	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7944950	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947418	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7947512	0.90[EUR][1000 genomes];1.00[ASN][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs60677263	RP11-535A19.1	cis	Whole Blood	GTEx
rs60677263	DGAT2	cis	Whole Blood	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75496200-75514800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:75496800-75514400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:75497800-75514200	Weak transcription	Gastric	stomach
4	chr11:75506400-75514600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:75508000-75514400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:75508200-75514400	Strong transcription	Fetal Intestine Small	intestine
7	chr11:75509000-75525200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:75509200-75515600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:75509800-75525000	Weak transcription	Fetal Stomach	stomach
10	chr11:75510800-75514400	Enhancers	Fetal Thymus	thymus
11	chr11:75511000-75514800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:75511200-75514000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:75511600-75515000	Enhancers	Brain Substantia Nigra	brain
14	chr11:75511800-75514400	Enhancers	Placenta	Placenta
15	chr11:75511800-75514800	Enhancers	Brain Anterior Caudate	brain
16	chr11:75511800-75514800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr11:75512000-75514400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:75512000-75514400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr11:75512000-75514400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:75512000-75514400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr11:75512000-75514400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:75512000-75518600	Weak transcription	Stomach Mucosa	stomach
23	chr11:75512200-75514200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:75512200-75514400	Genic enhancers	Adipose Nuclei	Adipose
25	chr11:75512200-75514400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:75512200-75514800	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:75512200-75521800	Weak transcription	Lung	lung
28	chr11:75512400-75514200	Weak transcription	Brain Angular Gyrus	brain
29	chr11:75512400-75514400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:75512600-75514200	Enhancers	Spleen	Spleen
31	chr11:75512800-75523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:75512800-75525000	Weak transcription	Esophagus	oesophagus
33	chr11:75513000-75514000	Weak transcription	Liver	Liver
34	chr11:75513000-75514200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:75513000-75514400	Weak transcription	Right Ventricle	heart
36	chr11:75513000-75517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:75513000-75521400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:75513000-75525200	Weak transcription	Fetal Intestine Large	intestine
39	chr11:75513200-75514200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr11:75513200-75514200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:75513200-75514200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:75513200-75514800	Enhancers	Brain Hippocampus Middle	brain
43	chr11:75513200-75519600	Weak transcription	GM12878-XiMat	blood
44	chr11:75513400-75514000	Enhancers	HSMMtube	muscle
45	chr11:75513400-75514400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr11:75513400-75524600	Weak transcription	Primary T cells from cord blood	blood
47	chr11:75513400-75525000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:75513600-75514000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:75513600-75514200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:75513600-75514800	Enhancers	HepG2	liver

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