Variant report

Variant	rs72966491
Chromosome Location	chr2:100727348-100727349
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56710070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57341121	0.89[AFR][1000 genomes]
rs6716201	0.83[AFR][1000 genomes]
rs72966479	0.83[AFR][1000 genomes]
rs72966493	1.00[AMR][1000 genomes]
rs7598290	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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv458707	chr2:100687778-100753490	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv582529	chr2:100687778-100753490	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:100722000-100729400	Weak transcription	Dnd41	blood
2	chr2:100722200-100727600	Weak transcription	Primary T cells from cord blood	blood
3	chr2:100722400-100730000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:100726200-100727400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:100726200-100727600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:100726200-100727800	Enhancers	Fetal Thymus	thymus
7	chr2:100726400-100727600	Enhancers	Fetal Heart	heart
8	chr2:100726800-100730000	Weak transcription	Spleen	Spleen
9	chr2:100726800-100730400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:100727000-100727400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:100727000-100727600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:100727000-100727600	Enhancers	Colon Smooth Muscle	Colon
13	chr2:100727000-100727800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:100727000-100727800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:100727000-100727800	Enhancers	GM12878-XiMat	blood
16	chr2:100727200-100727800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
17	chr2:100727200-100729400	Weak transcription	Thymus	Thymus
18	chr2:100727200-100730600	Genic enhancers	Primary B cells from peripheral blood	blood

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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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