Variant report

Variant	rs72671988
Chromosome Location	chr1:45161415-45161416
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	chr1:45158895..45163540-chr1:45164088..45166944,4	K562	blood:
2	chr1:45153861..45158465-chr1:45159591..45163937,5	K562	blood:

Variant related genes	Relation type
ENSG00000198520	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12036630	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1321703	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16832186	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16832188	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3738733	0.90[EUR][1000 genomes]
rs3754421	0.90[EUR][1000 genomes]
rs3768438	0.90[EUR][1000 genomes]
rs3768441	0.90[EUR][1000 genomes]
rs3850854	1.00[EUR][1000 genomes]
rs3889695	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41524944	1.00[EUR][1000 genomes]
rs4660286	1.00[EUR][1000 genomes]
rs4660814	0.90[EUR][1000 genomes]
rs4660819	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56756630	0.90[EUR][1000 genomes]
rs59834392	0.90[EUR][1000 genomes]
rs66509359	1.00[EUR][1000 genomes]
rs72671943	0.90[EUR][1000 genomes]
rs72671944	0.90[EUR][1000 genomes]
rs72671945	0.90[EUR][1000 genomes]
rs72671948	0.90[EUR][1000 genomes]
rs72671950	0.90[EUR][1000 genomes]
rs72671962	1.00[EUR][1000 genomes]
rs72671966	1.00[EUR][1000 genomes]
rs72671967	1.00[EUR][1000 genomes]
rs72671971	1.00[EUR][1000 genomes]
rs72671974	1.00[EUR][1000 genomes]
rs72671982	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72671984	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7532001	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7539607	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45141200-45164400	Weak transcription	Fetal Brain Female	brain
2	chr1:45143600-45171800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:45146000-45172400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:45149400-45166000	Weak transcription	Liver	Liver
5	chr1:45150800-45161600	Weak transcription	Primary T cells from cord blood	blood
6	chr1:45158800-45164800	Enhancers	GM12878-XiMat	blood
7	chr1:45159000-45161600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:45159200-45161800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:45159200-45161800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:45159200-45172800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:45159800-45162600	Weak transcription	Brain Anterior Caudate	brain
12	chr1:45160000-45162000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:45160200-45164600	Enhancers	Primary B cells from cord blood	blood
14	chr1:45160400-45164800	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:45160800-45164400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:45161000-45161800	Enhancers	HepG2	liver
17	chr1:45161200-45173800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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