Variant report

Variant	rs11236546
Chromosome Location	chr11:75538812-75538813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75538391..75541222-chr11:75552775..75555078,2	MCF-7	breast:
2	chr11:75523241..75526471-chr11:75537814..75541903,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198382	Chromatin interaction
ENSG00000255507	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10160802	0.89[CEU][hapmap]
rs1017713	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10219339	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793124	0.80[CEU][hapmap];0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs10793125	0.82[CEU][hapmap];0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs10793126	0.85[ASN][1000 genomes]
rs10793127	0.91[ASN][1000 genomes]
rs10793132	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793133	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793135	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10899109	0.85[ASN][1000 genomes]
rs10899110	0.82[CEU][hapmap];0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs10899113	0.91[ASN][1000 genomes]
rs10899114	0.82[CEU][hapmap]
rs10899116	0.89[CEU][hapmap];0.93[CHB][hapmap];0.92[ASN][1000 genomes]
rs10899118	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10899119	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899120	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899121	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899122	0.86[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899123	0.88[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899127	0.89[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899128	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899129	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899131	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899132	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899133	1.00[ASN][1000 genomes]
rs10899134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899135	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899137	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899139	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899140	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899142	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899144	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236511	0.86[CHB][hapmap]
rs11236514	0.80[CEU][hapmap];0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs11236515	0.80[CEU][hapmap];0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs11236516	0.80[CEU][hapmap];0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs11236517	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs11236518	0.80[CEU][hapmap];0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs11236519	0.91[ASN][1000 genomes]
rs11236527	0.91[ASN][1000 genomes]
rs11236528	0.91[ASN][1000 genomes]
rs11236530	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236531	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236533	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236534	0.90[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236537	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236538	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236539	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236542	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236543	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236545	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236549	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236551	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236555	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11236564	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11501918	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11821808	0.85[ASN][1000 genomes]
rs11822903	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11823869	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12222542	0.90[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12222995	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12223234	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12224062	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12278224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12278257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12280456	0.81[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs12280464	0.89[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs12285853	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1458836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17134394	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2004638	0.82[CEU][hapmap]
rs2008476	0.89[CEU][hapmap];0.93[CHB][hapmap];0.91[ASN][1000 genomes]
rs2168947	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs3060	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs3740849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3740850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58340821	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58411334	0.91[ASN][1000 genomes]
rs58743594	0.80[AMR][1000 genomes]
rs60677263	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60692776	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6592615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66784596	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67233017	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67268976	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7101806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7106736	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107742	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7108178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7110517	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7118293	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7118569	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7122123	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7126727	0.90[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7128716	0.88[CEU][hapmap];0.85[CHB][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72997616	0.91[ASN][1000 genomes]
rs72997623	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72997677	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7933235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7937642	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7944950	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7947418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7947512	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11236546	DGAT2	cis	Whole Blood	GTEx
rs11236546	RP11-535A19.1	cis	Whole Blood	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75528200-75541000	Weak transcription	Esophagus	oesophagus
2	chr11:75528200-75549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:75528200-75553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:75528400-75541600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:75528400-75543000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:75528400-75550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:75528400-75561600	Weak transcription	HSMM	muscle
8	chr11:75528400-75561800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:75528600-75540000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:75528600-75543800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:75528600-75561400	Weak transcription	Fetal Brain Female	brain
12	chr11:75528600-75561400	Weak transcription	Thymus	Thymus
13	chr11:75528600-75563600	Weak transcription	Dnd41	blood
14	chr11:75528800-75547200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:75529200-75544400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr11:75529200-75544400	Weak transcription	Fetal Brain Male	brain
17	chr11:75531800-75539400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:75532200-75551000	Weak transcription	NHEK	skin
19	chr11:75532400-75551000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:75533200-75539400	Enhancers	Rectal Smooth Muscle	rectum
21	chr11:75533600-75540600	Weak transcription	Ovary	ovary
22	chr11:75533600-75549000	Weak transcription	K562	blood
23	chr11:75534200-75539200	Enhancers	Colon Smooth Muscle	Colon
24	chr11:75534800-75542600	Weak transcription	Fetal Thymus	thymus
25	chr11:75534800-75544400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:75534800-75549800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:75535000-75547200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:75535200-75543600	Weak transcription	Small Intestine	intestine
29	chr11:75535400-75539600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:75535400-75540400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr11:75535400-75545400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:75535400-75550000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:75535400-75560800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:75535400-75579000	Weak transcription	Fetal Intestine Large	intestine
35	chr11:75535600-75550800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:75535600-75556200	Weak transcription	A549	lung
37	chr11:75535800-75541600	Weak transcription	Primary T cells from cord blood	blood
38	chr11:75535800-75573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:75536600-75543200	Weak transcription	Right Ventricle	heart
40	chr11:75536800-75540400	Enhancers	Primary B cells from cord blood	blood
41	chr11:75536800-75542600	Weak transcription	Hela-S3	cervix
42	chr11:75536800-75543200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:75536800-75543200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:75537000-75539800	Weak transcription	Lung	lung
45	chr11:75537000-75543200	Weak transcription	Spleen	Spleen
46	chr11:75537000-75547000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:75537000-75548800	Weak transcription	Fetal Stomach	stomach
48	chr11:75537200-75540600	Enhancers	Primary B cells from peripheral blood	blood
49	chr11:75537400-75539000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:75537400-75539200	Enhancers	Duodenum Mucosa	Duodenum

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