Variant report

Variant	rs2014454
Chromosome Location	chr7:139647884-139647885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139644357..139647303-chr7:139647487..139650390,4	K562	blood:
2	chr7:139618302..139620555-chr7:139646388..139648923,2	K562	blood:
3	chr7:139641847..139644053-chr7:139646879..139649393,2	MCF-7	breast:
4	chr7:139647807..139650968-chr7:139651691..139656029,5	K562	blood:
5	chr7:139636456..139638180-chr7:139647527..139649483,2	K562	blood:

Variant related genes	Relation type
ENSG00000059377	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1034791	1.00[ASN][1000 genomes]
rs12666944	1.00[ASN][1000 genomes]
rs1544451	1.00[ASN][1000 genomes]
rs2008582	1.00[ASN][1000 genomes]
rs2107901	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2158668	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2190087	1.00[ASN][1000 genomes]
rs2284207	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2284208	0.99[ASN][1000 genomes]
rs2284209	0.99[ASN][1000 genomes]
rs2284210	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299894	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4140996	1.00[ASN][1000 genomes]
rs4629769	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725560	0.99[ASN][1000 genomes]
rs4726473	0.99[ASN][1000 genomes]
rs4726477	1.00[ASN][1000 genomes]
rs740148	0.93[ASN][1000 genomes]
rs757759	1.00[ASN][1000 genomes]
rs757760	1.00[ASN][1000 genomes]
rs886697	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv889245	chr7:139599229-139657221	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139634000-139656800	Weak transcription	Thymus	Thymus
2	chr7:139645800-139653000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:139646800-139651400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:139646800-139658600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:139647000-139654800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:139647000-139660600	Weak transcription	K562	blood
7	chr7:139647200-139649400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:139647400-139651200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:139647600-139652800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:139647600-139653200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:139647800-139648400	Weak transcription	Primary monocytes fromperipheralblood	blood

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