Variant report

Variant	rs10422460
Chromosome Location	chr19:51973113-51973114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:51971107-51973140	K562	blood:	n/a	n/a
2	POLR2A	chr19:51970702-51973376	K562	blood:	n/a	n/a
3	POLR2A	chr19:51970738-51973354	K562	blood:	n/a	n/a
4	POLR2A	chr19:51971132-51973240	K562	blood:	n/a	n/a
5	TBL1XR1	chr19:51970726-51973188	K562	blood:	n/a	n/a
6	RCOR1	chr19:51971137-51973169	K562	blood:	n/a	n/a
7	POLR2A	chr19:51971124-51973390	K562	blood:	n/a	n/a
8	MAZ	chr19:51973076-51973306	K562	blood:	n/a	n/a
9	POLR2A	chr19:51971138-51973221	K562	blood:	n/a	n/a
10	POLR2A	chr19:51971580-51973267	K562	blood:	n/a	n/a
11	POLR2A	chr19:51971096-51973184	K562	blood:	n/a	n/a
12	POLR2A	chr19:51972255-51973359	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51943317..51945909-chr19:51971726..51974362,2	K562	blood:
2	chr19:51971316..51973681-chr19:51979133..51981319,3	K562	blood:

No data

Variant related genes	Relation type
SIGLEC26P	TF binding region
ENSG00000213822	Chromatin interaction
ENSG00000269181	Chromatin interaction

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

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

rs_ID	r²[population]
rs10411438	0.83[ASN][1000 genomes]
rs10412866	0.88[ASN][1000 genomes]
rs10413005	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10413139	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10413254	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10413469	0.83[ASN][1000 genomes]
rs10413560	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10413645	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10414554	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10414851	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10415519	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10420912	1.00[AFR][1000 genomes]
rs10425109	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10425569	0.84[AFR][1000 genomes]
rs12327789	0.83[ASN][1000 genomes]
rs12327792	0.83[ASN][1000 genomes]
rs12327796	0.83[ASN][1000 genomes]
rs12327808	0.83[ASN][1000 genomes]
rs28444450	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4267441	0.83[ASN][1000 genomes]
rs57906214	0.88[ASN][1000 genomes]
rs61701460	0.88[ASN][1000 genomes]
rs62115078	0.83[ASN][1000 genomes]
rs62115079	0.83[ASN][1000 genomes]
rs62115080	0.83[ASN][1000 genomes]
rs62116163	0.83[ASN][1000 genomes]
rs726763	0.83[ASN][1000 genomes]
rs9304713	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9304714	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9304715	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9304716	0.84[AFR][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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv458724	chr19:51925519-51975723	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv579965	chr19:51925519-51975723	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv961163	chr19:51971394-51976393	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51966800-51973400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr19:51971800-51974200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr19:51971800-51975000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr19:51972000-51976000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr19:51972200-51973400	Flanking Active TSS	K562	blood
6	chr19:51972600-51976400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr19:51973000-51973800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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