Variant report

Variant	rs72822298
Chromosome Location	chr2:48785460-48785461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11693639	1.00[AFR][1000 genomes]
rs1404056	1.00[AFR][1000 genomes]
rs6545050	1.00[AFR][1000 genomes]
rs6733982	1.00[AFR][1000 genomes]
rs72822206	1.00[AFR][1000 genomes]
rs72822215	1.00[AFR][1000 genomes]
rs72822299	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72824105	1.00[EUR][1000 genomes]
rs72824107	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72824125	1.00[AFR][1000 genomes]
rs72824132	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1007491	chr2:48752185-48796441	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv535683	chr2:48752185-48796441	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv581776	chr2:48763382-48913019	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1000419	chr2:48766957-48795327	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	esv2631205	chr2:48781242-48785811	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
11	esv3387256	chr2:48782973-48785921	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48759000-48787000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:48759000-48787400	Weak transcription	Psoas Muscle	Psoas
3	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:48759200-48793200	Weak transcription	Fetal Lung	lung
5	chr2:48767200-48807800	Weak transcription	Aorta	Aorta
6	chr2:48768000-48787600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:48768000-48793800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:48772600-48788000	Weak transcription	Lung	lung
9	chr2:48772800-48787400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:48772800-48787600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:48773000-48787200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:48773000-48808800	Weak transcription	Right Ventricle	heart
13	chr2:48773600-48787600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:48774800-48786400	Weak transcription	Left Ventricle	heart
15	chr2:48775400-48787400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:48775800-48793600	Weak transcription	Placenta	Placenta
17	chr2:48776400-48786000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:48776600-48786800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:48776600-48794000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:48777200-48807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:48779200-48787600	Weak transcription	Esophagus	oesophagus
22	chr2:48779200-48789800	Weak transcription	Ovary	ovary
23	chr2:48779400-48800200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:48780600-48793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:48781200-48793000	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:48781200-48793800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:48781400-48787400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:48781400-48787600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:48781400-48789800	Weak transcription	Fetal Stomach	stomach
30	chr2:48781800-48787400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:48781800-48789400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:48784000-48787200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:48785200-48785800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:48785400-48786000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:48785400-48788200	Enhancers	Fetal Muscle Leg	muscle

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