Variant report

Variant	rs58563643
Chromosome Location	chr2:38851185-38851186
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38827906..38831148-chr2:38849873..38855053,6	K562	blood:
2	chr2:38850084..38852366-chr2:38855789..38858760,2	K562	blood:
3	chr2:38850061..38855322-chr2:38870938..38874508,5	K562	blood:
4	chr2:38828271..38831581-chr2:38848960..38853344,4	K562	blood:
5	chr2:38850355..38852366-chr2:38854447..38858679,3	K562	blood:

Variant related genes	Relation type
ENSG00000143889	Chromatin interaction
ENSG00000235586	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13427352	0.91[EUR][1000 genomes]
rs17022876	0.92[EUR][1000 genomes]
rs17022893	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022908	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022951	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022999	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278359	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55992451	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56131922	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58917023	0.92[ASN][1000 genomes]
rs59036182	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706212	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6751824	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907944	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909820	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73930139	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931608	1.00[EUR][1000 genomes]
rs7566216	0.82[EUR][1000 genomes]
rs7581419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7586285	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594594	1.00[EUR][1000 genomes]
rs9789634	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581482	chr2:38799820-38858669	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581483	chr2:38799820-38862223	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv3505628	chr2:38851120-38852365	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:38847400-38853400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:38847800-38852000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:38848000-38851600	Weak transcription	Fetal Intestine Large	intestine
5	chr2:38848000-38851800	Weak transcription	Thymus	Thymus
6	chr2:38848200-38851800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:38848200-38854000	Weak transcription	Stomach Mucosa	stomach
8	chr2:38849800-38855400	Weak transcription	GM12878-XiMat	blood
9	chr2:38849800-38855600	Enhancers	Fetal Thymus	thymus
10	chr2:38850000-38851800	Weak transcription	HepG2	liver
11	chr2:38850000-38851800	Weak transcription	K562	blood
12	chr2:38850000-38854800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:38850400-38851800	Weak transcription	Dnd41	blood
14	chr2:38850400-38853000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:38850400-38853400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:38850400-38853400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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