Variant report

Variant	rs57005054
Chromosome Location	chr11:74616625-74616626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1344979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1549980	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17133514	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3944290	0.84[AFR][1000 genomes]
rs4309180	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55757045	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55773510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56059110	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60245702	1.00[AMR][1000 genomes]
rs60725765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103175	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7106103	1.00[AMR][1000 genomes]
rs7108347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7109824	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111253	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7114920	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121076	1.00[AMR][1000 genomes]
rs7123433	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125269	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7480268	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7931098	1.00[AMR][1000 genomes]
rs7938354	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74587400-74629600	Weak transcription	Gastric	stomach
2	chr11:74588400-74630600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:74588400-74636000	Weak transcription	NHLF	lung
4	chr11:74594800-74646600	Weak transcription	Small Intestine	intestine
5	chr11:74596800-74619000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:74598400-74629600	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:74599200-74619400	Weak transcription	Colonic Mucosa	Colon
8	chr11:74603200-74617800	Weak transcription	K562	blood
9	chr11:74606600-74626400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:74607200-74618000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:74607400-74617200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:74607600-74617200	Weak transcription	Thymus	Thymus
13	chr11:74607600-74618200	Weak transcription	Hela-S3	cervix
14	chr11:74607600-74637400	Weak transcription	Pancreas	Pancrea
15	chr11:74607800-74618000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:74607800-74618000	Weak transcription	Ovary	ovary
17	chr11:74607800-74620800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:74608000-74618000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:74612200-74620600	Weak transcription	HSMM	muscle
20	chr11:74612400-74629600	Weak transcription	NHDF-Ad	bronchial
21	chr11:74612600-74617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:74612800-74617000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:74612800-74618200	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:74612800-74619000	Weak transcription	Brain Angular Gyrus	brain
25	chr11:74612800-74621200	Weak transcription	Fetal Kidney	kidney
26	chr11:74612800-74634000	Weak transcription	Psoas Muscle	Psoas
27	chr11:74613000-74616800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:74613000-74620200	Weak transcription	Fetal Heart	heart
29	chr11:74613400-74621000	Weak transcription	Brain Substantia Nigra	brain
30	chr11:74613400-74632600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:74613600-74616800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:74613600-74617600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:74613600-74617800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:74613600-74617800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:74613600-74619200	Weak transcription	Fetal Brain Male	brain
36	chr11:74613600-74624000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:74613600-74627800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:74613800-74617200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:74613800-74617200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:74613800-74617200	Weak transcription	Fetal Lung	lung
41	chr11:74613800-74628600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:74613800-74637400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:74614000-74617000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:74614000-74619200	Weak transcription	Fetal Brain Female	brain
45	chr11:74614200-74617200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:74614200-74620800	Weak transcription	Brain Germinal Matrix	brain
47	chr11:74614400-74616800	Weak transcription	Primary B cells from cord blood	blood
48	chr11:74614400-74617200	Weak transcription	Right Ventricle	heart
49	chr11:74614400-74618000	Weak transcription	Brain Anterior Caudate	brain
50	chr11:74614400-74618800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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