Variant report

Variant	rs11118695
Chromosome Location	chr1:221508425-221508426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11118661	1.00[EUR][1000 genomes]
rs11118666	1.00[AMR][1000 genomes]
rs11118693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11118697	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11118720	1.00[AMR][1000 genomes]
rs12057905	1.00[EUR][1000 genomes]
rs12058952	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12065046	1.00[AMR][1000 genomes]
rs12070831	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12071559	1.00[AMR][1000 genomes]
rs12073583	1.00[EUR][1000 genomes]
rs12075523	1.00[AMR][1000 genomes]
rs12077976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085527	1.00[EUR][1000 genomes]
rs12086603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086869	1.00[EUR][1000 genomes]
rs12087035	1.00[AMR][1000 genomes]
rs12087664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12087867	1.00[AMR][1000 genomes]
rs60434045	1.00[AMR][1000 genomes]
rs60865356	1.00[EUR][1000 genomes]
rs6663534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6667275	1.00[EUR][1000 genomes]
rs73094956	1.00[EUR][1000 genomes]
rs73101522	1.00[EUR][1000 genomes]
rs74144265	1.00[AMR][1000 genomes]
rs74144283	1.00[AMR][1000 genomes]
rs74144295	1.00[AMR][1000 genomes]
rs74144384	1.00[EUR][1000 genomes]
rs74146103	1.00[AMR][1000 genomes]
rs7522887	1.00[EUR][1000 genomes]
rs7536615	1.00[EUR][1000 genomes]
rs9943267	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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221506200-221509200	Enhancers	Lung	lung
2	chr1:221506400-221509000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:221506400-221509800	Enhancers	Fetal Stomach	stomach
4	chr1:221506600-221509600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:221507000-221509200	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:221507000-221510000	Enhancers	Ovary	ovary
7	chr1:221507200-221508800	Enhancers	Adipose Nuclei	Adipose
8	chr1:221507200-221508800	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:221507200-221509000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:221507200-221509000	Enhancers	Spleen	Spleen
11	chr1:221507200-221509600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:221507200-221509600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:221507200-221509800	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:221507200-221510000	Enhancers	Placenta	Placenta
15	chr1:221507200-221511000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:221507400-221508600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:221507400-221510600	Enhancers	Colon Smooth Muscle	Colon
18	chr1:221507600-221508800	Enhancers	NHLF	lung
19	chr1:221507800-221508800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:221507800-221509400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr1:221507800-221509600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:221507800-221509600	Enhancers	Right Atrium	heart
23	chr1:221507800-221509800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:221507800-221511200	Enhancers	Fetal Lung	lung
25	chr1:221508000-221508600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:221508000-221508600	Weak transcription	Brain Angular Gyrus	brain
27	chr1:221508000-221508600	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr1:221508000-221508800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:221508000-221508800	Enhancers	Brain Anterior Caudate	brain
30	chr1:221508000-221508800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:221508000-221509000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:221508000-221509000	Enhancers	Duodenum Mucosa	Duodenum
33	chr1:221508000-221509200	Enhancers	Stomach Smooth Muscle	stomach
34	chr1:221508000-221509400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:221508000-221509800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:221508000-221510000	Flanking Active TSS	Hela-S3	cervix
37	chr1:221508200-221508800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr1:221508200-221508800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:221508200-221508800	Enhancers	HSMMtube	muscle
40	chr1:221508200-221509000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:221508200-221509200	Enhancers	HSMM	muscle
42	chr1:221508200-221509400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:221508200-221509400	Weak transcription	Psoas Muscle	Psoas
44	chr1:221508200-221509800	Enhancers	NH-A	brain
45	chr1:221508400-221508800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:221508400-221509000	Weak transcription	Aorta	Aorta
47	chr1:221508400-221509200	Active TSS	Brain Substantia Nigra	brain
48	chr1:221508400-221509200	Enhancers	Fetal Thymus	thymus
49	chr1:221508400-221509400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:221508400-221509400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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