Variant report

Variant	rs72907944
Chromosome Location	chr2:38849931-38849932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38827906..38831148-chr2:38849873..38855053,6	K562	blood:
2	chr2:38828271..38831581-chr2:38848960..38853344,4	K562	blood:

Variant related genes	Relation type
ENSG00000235586	Chromatin interaction
ENSG00000143889	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13427352	0.91[EUR][1000 genomes]
rs17022876	0.92[EUR][1000 genomes]
rs17022893	1.00[EUR][1000 genomes]
rs17022908	1.00[EUR][1000 genomes]
rs17022951	1.00[EUR][1000 genomes]
rs17022999	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278359	1.00[EUR][1000 genomes]
rs55992451	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56131922	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56768847	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs58563643	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58917023	0.92[ASN][1000 genomes]
rs59036182	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706212	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6751824	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909820	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73930139	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931608	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7560608	0.94[AFR][1000 genomes]
rs7566216	0.82[EUR][1000 genomes]
rs7581419	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7586285	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594594	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:22 , 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	chr2:38844400-38850800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:38846200-38850400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:38847400-38853400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:38847800-38852000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:38848000-38851600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:38848000-38851800	Weak transcription	Thymus	Thymus
8	chr2:38848200-38851800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:38848200-38854000	Weak transcription	Stomach Mucosa	stomach
10	chr2:38848800-38850400	Enhancers	Primary B cells from cord blood	blood
11	chr2:38849200-38850000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:38849200-38850000	Enhancers	HepG2	liver
13	chr2:38849200-38850200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:38849200-38850400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:38849200-38850400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:38849200-38850400	Enhancers	Dnd41	blood
17	chr2:38849400-38850000	Enhancers	K562	blood
18	chr2:38849600-38850400	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:38849800-38850200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr2:38849800-38850200	Enhancers	Adipose Nuclei	Adipose
21	chr2:38849800-38855400	Weak transcription	GM12878-XiMat	blood
22	chr2:38849800-38855600	Enhancers	Fetal Thymus	thymus

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