Variant report

Variant	rs13407209
Chromosome Location	chr2:182850026-182850027
allele	C/T
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]
rs10186943	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13405639	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16867515	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16867516	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16867517	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2059701	0.92[EUR][1000 genomes]
rs56151684	0.90[EUR][1000 genomes]
rs73976919	0.84[AMR][1000 genomes];0.90[EUR][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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv3440551	chr2:182832201-182874730	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182843400-182904000	Weak transcription	Thymus	Thymus
2	chr2:182845400-182879000	Weak transcription	Fetal Thymus	thymus
3	chr2:182848600-182850200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:182849200-182850400	Enhancers	NHLF	lung
5	chr2:182849200-182850600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:182849400-182850800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:182849400-182850800	Enhancers	Colon Smooth Muscle	Colon
8	chr2:182849600-182850200	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:182849600-182850200	Enhancers	Brain Hippocampus Middle	brain
10	chr2:182849600-182850200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:182849600-182850200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:182849600-182850200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:182849600-182850200	Enhancers	Stomach Mucosa	stomach
14	chr2:182849600-182850400	Enhancers	Brain Anterior Caudate	brain
15	chr2:182849600-182850400	Enhancers	Fetal Lung	lung
16	chr2:182849600-182850600	Enhancers	Brain Angular Gyrus	brain
17	chr2:182849600-182850600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr2:182849600-182850600	Enhancers	Gastric	stomach
19	chr2:182849600-182850800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:182849800-182850400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:182849800-182850400	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:182849800-182850600	Enhancers	Aorta	Aorta
23	chr2:182850000-182850200	Flanking Active TSS	Fetal Heart	heart
24	chr2:182850000-182850400	Enhancers	Right Atrium	heart
25	chr2:182850000-182850600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:182850000-182850600	Enhancers	Fetal Muscle Leg	muscle
27	chr2:182850000-182850600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr2:182850000-182850600	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:182850000-182850800	Enhancers	Fetal Brain Female	brain
30	chr2:182850000-182851000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:182850000-182851000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:182850000-182851000	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr2:182850000-182851200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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