Variant report

Variant	rs2244310
Chromosome Location	chr1:221046148-221046149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2065800	1.00[AFR][1000 genomes]
rs2784282	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221030000-221049400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:221037800-221047200	Weak transcription	Right Atrium	heart
3	chr1:221040800-221050400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:221044200-221047800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:221044200-221047800	Weak transcription	Psoas Muscle	Psoas
6	chr1:221044600-221051200	Weak transcription	Osteobl	bone
7	chr1:221044800-221047800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:221044800-221049600	Enhancers	Liver	Liver
9	chr1:221046000-221047400	Weak transcription	A549	lung
10	chr1:221046000-221048000	Weak transcription	HepG2	liver
11	chr1:221046000-221051800	Weak transcription	Pancreas	Pancrea

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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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