Variant report

Variant	rs36056653
Chromosome Location	chr1:223069671-223069672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs73113906	1.00[AMR][1000 genomes]
rs73113914	1.00[AMR][1000 genomes]
rs73113918	1.00[AMR][1000 genomes]
rs73113929	1.00[AMR][1000 genomes]
rs73113937	1.00[AMR][1000 genomes]
rs73113940	1.00[AMR][1000 genomes]
rs73115872	1.00[AMR][1000 genomes]
rs73115888	1.00[AMR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223051600-223070600	Weak transcription	Small Intestine	intestine
2	chr1:223051800-223070000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:223051800-223070000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:223052800-223070200	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:223055800-223082800	Weak transcription	Fetal Heart	heart
6	chr1:223060200-223071200	Weak transcription	Ovary	ovary
7	chr1:223060400-223070000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:223060600-223070000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:223060800-223070200	Weak transcription	Fetal Lung	lung
10	chr1:223062800-223070200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:223063200-223070400	Weak transcription	Primary T cells from cord blood	blood
12	chr1:223065200-223083000	Weak transcription	Aorta	Aorta
13	chr1:223065800-223070000	Weak transcription	Osteobl	bone
14	chr1:223066000-223070000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:223066200-223069800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:223066200-223070200	Weak transcription	NHDF-Ad	bronchial
17	chr1:223066200-223070400	Weak transcription	NHLF	lung
18	chr1:223066200-223070600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:223066800-223070600	Weak transcription	Stomach Mucosa	stomach
20	chr1:223067000-223073000	Weak transcription	Lung	lung
21	chr1:223067200-223070000	Weak transcription	NHEK	skin
22	chr1:223067200-223077800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:223067400-223070200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:223067400-223072800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:223067600-223070000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:223067600-223070000	Weak transcription	Dnd41	blood
27	chr1:223067600-223071000	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:223067800-223071200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:223067800-223072600	Weak transcription	HepG2	liver
30	chr1:223067800-223073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:223067800-223089400	Weak transcription	Fetal Intestine Small	intestine
32	chr1:223068000-223070400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:223068000-223070600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:223068000-223073000	Weak transcription	Psoas Muscle	Psoas
35	chr1:223068200-223083000	Weak transcription	Fetal Stomach	stomach
36	chr1:223069400-223070800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:223069600-223070600	Weak transcription	Right Atrium	heart

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