Variant report

Variant	rs59301752
Chromosome Location	chr11:5698950-5698951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57723437	1.00[AMR][1000 genomes]
rs59896509	1.00[AMR][1000 genomes]
rs60100045	1.00[AMR][1000 genomes]
rs60111961	1.00[AMR][1000 genomes]
rs61735328	1.00[AMR][1000 genomes]
rs7107192	1.00[AMR][1000 genomes]
rs7122470	1.00[AMR][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	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5664000-5699400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:5666400-5699400	Weak transcription	Left Ventricle	heart
3	chr11:5674800-5705400	Weak transcription	Psoas Muscle	Psoas
4	chr11:5676000-5699400	Weak transcription	Pancreas	Pancrea
5	chr11:5678000-5699400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:5681400-5699400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:5681600-5699400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:5684000-5700000	Weak transcription	Right Ventricle	heart
9	chr11:5684000-5705400	Weak transcription	Brain Substantia Nigra	brain
10	chr11:5684200-5705400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:5684600-5699200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:5684600-5699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:5684600-5703600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:5684800-5699200	Weak transcription	Brain Anterior Caudate	brain
15	chr11:5684800-5699400	Weak transcription	NHDF-Ad	bronchial
16	chr11:5685200-5699200	Weak transcription	HepG2	liver
17	chr11:5685400-5705400	Weak transcription	Stomach Mucosa	stomach
18	chr11:5686200-5699000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:5686800-5699000	Weak transcription	NHLF	lung
20	chr11:5687200-5699000	Weak transcription	K562	blood
21	chr11:5687200-5699400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:5687200-5699400	Weak transcription	Small Intestine	intestine
23	chr11:5687200-5699400	Weak transcription	HMEC	breast
24	chr11:5687600-5699000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:5687600-5699400	Weak transcription	NHEK	skin
26	chr11:5687800-5699600	Weak transcription	Fetal Heart	heart
27	chr11:5688000-5705600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:5689200-5699000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:5691000-5699000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:5691000-5705000	Weak transcription	Hela-S3	cervix
31	chr11:5691000-5705400	Weak transcription	Fetal Brain Male	brain
32	chr11:5691200-5699000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:5691200-5699000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:5691400-5699200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:5692000-5699000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:5692200-5699000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:5692200-5699000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:5692200-5699000	Weak transcription	Fetal Kidney	kidney
39	chr11:5692400-5699000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:5692400-5699000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:5692400-5699000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:5692400-5699000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:5692600-5699200	Weak transcription	NH-A	brain
44	chr11:5694200-5699400	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:5694200-5705400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:5694400-5699800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:5695600-5699000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:5696000-5699400	Weak transcription	Gastric	stomach
49	chr11:5696000-5699400	Weak transcription	Spleen	Spleen
50	chr11:5696000-5705200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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