Variant report

Variant	rs72942963
Chromosome Location	chr2:97601271-97601272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97524151..97526092-chr2:97601214..97603096,2	K562	blood:
2	chr2:97599977..97602629-chr2:97603071..97605720,2	K562	blood:
3	chr2:97600107..97602360-chr2:97607998..97610408,2	MCF-7	breast:
4	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
5	chr2:97595378..97599170-chr2:97599205..97602080,3	K562	blood:
6	chr2:97601262..97604033-chr2:97606148..97607767,2	K562	blood:
7	chr2:97587758..97596829-chr2:97597446..97601811,11	K562	blood:
8	chr2:97584545..97587294-chr2:97599771..97602609,2	MCF-7	breast:
9	chr2:97524151..97525975-chr2:97600172..97602714,2	K562	blood:
10	chr2:97599384..97601746-chr2:97614766..97616556,2	MCF-7	breast:
11	chr2:97601087..97602762-chr2:97605805..97607767,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000213337	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000163126	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58401081	1.00[AMR][1000 genomes]
rs60912063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6756756	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942941	1.00[AMR][1000 genomes]
rs72942947	1.00[AMR][1000 genomes]
rs72942960	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942994	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS 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	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97594000-97610200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:97597200-97606000	Weak transcription	Fetal Thymus	thymus
3	chr2:97598000-97601800	Weak transcription	Right Atrium	heart
4	chr2:97598400-97605800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:97599800-97605600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:97599800-97609400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:97600000-97605400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:97600200-97603200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:97600200-97605400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:97600200-97605400	Weak transcription	Brain Substantia Nigra	brain
11	chr2:97600200-97605600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:97600200-97605800	Weak transcription	Fetal Brain Male	brain
13	chr2:97600200-97610400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:97600400-97604000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:97601200-97601400	Enhancers	K562	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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