Variant report

Variant	rs61732228
Chromosome Location	chr2:182850882-182850883
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16867518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16867519	1.00[EUR][1000 genomes]
rs16867520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16867522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17456662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:18 , 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	chr2:182850000-182851000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:182850000-182851000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:182850000-182851000	Flanking Active TSS	Brain Substantia Nigra	brain
6	chr2:182850000-182851200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:182850200-182851000	Enhancers	Fetal Heart	heart
8	chr2:182850200-182851000	Active TSS	Left Ventricle	heart
9	chr2:182850400-182851000	Active TSS	Right Ventricle	heart
10	chr2:182850600-182851000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr2:182850600-182851600	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr2:182850600-182853800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:182850600-182853800	Weak transcription	Psoas Muscle	Psoas
14	chr2:182850800-182851000	Enhancers	Brain Anterior Caudate	brain
15	chr2:182850800-182851000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:182850800-182851800	Active TSS	Right Atrium	heart
17	chr2:182850800-182851800	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr2:182850800-182853000	Weak transcription	Colon Smooth Muscle	Colon

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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