Variant report

Variant	rs1203750
Chromosome Location	chr11:65941692-65941693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65940824..65943217-chr11:65943836..65945642,2	K562	blood:
2	chr11:65938428..65942314-chr11:65944673..65947481,3	MCF-7	breast:
3	chr11:65890608..65892349-chr11:65939940..65942700,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1151532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190945	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190946	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1191715	0.96[AFR][1000 genomes]
rs1203551	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203552	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630638	0.96[AFR][1000 genomes]
rs1783562	0.92[AFR][1000 genomes]
rs2430981	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2452687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016315	0.85[AFR][1000 genomes]
rs3017606	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs471709	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485547	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4930332	0.96[AFR][1000 genomes]
rs502898	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs504456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505412	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs510398	0.85[AFR][1000 genomes]
rs512316	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515778	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs532265	0.86[AFR][1000 genomes]
rs541954	1.00[AMR][1000 genomes]
rs547282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555527	1.00[AMR][1000 genomes]
rs555826	0.85[AFR][1000 genomes]
rs560105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560983	0.83[AFR][1000 genomes]
rs561199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571368	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572697	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591196	0.92[AFR][1000 genomes]
rs693382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7934588	0.89[AFR][1000 genomes]
rs7947668	0.96[AFR][1000 genomes]
rs948477	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	esv1804701	chr11:65922589-65957003	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1813498	chr11:65922589-65957003	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv362	chr11:65927138-65948793	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1806665	chr11:65933975-65957003	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv1809732	chr11:65934549-65956577	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65905200-65947000	Weak transcription	Fetal Lung	lung
2	chr11:65905800-65952800	Weak transcription	Fetal Stomach	stomach
3	chr11:65906000-65960200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:65911000-65943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:65913400-65951000	Weak transcription	Spleen	Spleen
6	chr11:65918000-65949200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:65920400-65954800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:65924800-65943200	Weak transcription	NHEK	skin
9	chr11:65925400-65955000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:65925600-65952800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:65925800-65955000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:65927200-65951000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:65927200-65951000	Weak transcription	Pancreas	Pancrea
14	chr11:65927200-65958400	Weak transcription	Gastric	stomach
15	chr11:65927600-65947600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:65928600-65945000	Weak transcription	GM12878-XiMat	blood
17	chr11:65928800-65957000	Weak transcription	Left Ventricle	heart
18	chr11:65929400-65960200	Weak transcription	HSMM	muscle
19	chr11:65929600-65944400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:65929600-65946400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:65929600-65977800	Weak transcription	HSMMtube	muscle
22	chr11:65929800-65944400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:65930000-65960200	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:65930000-65960800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:65930200-65942600	Weak transcription	Adipose Nuclei	Adipose
26	chr11:65932800-65942400	Weak transcription	Placenta	Placenta
27	chr11:65934400-65949200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:65936000-65947000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:65936400-65956800	Weak transcription	Fetal Intestine Small	intestine
30	chr11:65937000-65956000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:65937400-65958200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:65937800-65950600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:65938200-65946800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:65938200-65953000	Weak transcription	Thymus	Thymus
35	chr11:65938400-65978000	Weak transcription	Aorta	Aorta
36	chr11:65938600-65949000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:65938600-65960800	Weak transcription	Dnd41	blood
38	chr11:65939400-65960200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:65939600-65942000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:65939600-65942400	Strong transcription	Primary T cells from cord blood	blood
41	chr11:65939800-65942000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:65939800-65942000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr11:65939800-65942200	Weak transcription	K562	blood
44	chr11:65939800-65956400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:65940000-65943600	Weak transcription	HMEC	breast
46	chr11:65940000-65946400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:65940000-65958200	Weak transcription	Lung	lung
48	chr11:65940000-65978000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr11:65940200-65943000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:65940200-65943400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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