Variant report

Variant	rs10486360
Chromosome Location	chr7:19753119-19753120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr7:19753082-19754215	SK-N-SH	brain:	n/a	chr7:19753483-19753497
2	CTCF	chr7:19753000-19753150	NHDF-neo	bronchial:	n/a	n/a
3	CTCF	chr7:19752980-19753130	NHLF	lung:	n/a	n/a
4	CTCF	chr7:19753080-19753230	GM12878	blood:	n/a	n/a
5	CTCF	chr7:19753020-19753170	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr7:19753000-19753150	GM06990	blood:	n/a	n/a
7	CTCF	chr7:19752840-19754066	SK-N-SH	brain:	n/a	chr7:19753640-19753653 chr7:19753482-19753498 chr7:19753481-19753499 chr7:19753483-19753504
8	CTCF	chr7:19753040-19753190	HPF	lung:	n/a	n/a
9	RAD21	chr7:19753041-19753849	SK-N-SH	brain:	n/a	chr7:19753482-19753501
10	CTCF	chr7:19752910-19753951	A549	lung:	n/a	chr7:19753640-19753653 chr7:19753482-19753498 chr7:19753481-19753499 chr7:19753483-19753504

No.	Distal block	Cell Line	Cell type
1	chr7:19751944..19753996-chr7:19755724..19758618,2	K562	blood:
2	chr7:19737378..19739669-chr7:19751275..19753137,2	K562	blood:
3	chr7:19752993..19753942-chr7:20637906..20638730,2	K562	blood:

Variant related genes	Relation type
TWISTNB	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10255236	0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs10266162	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs1029554	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs10435066	0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10435067	0.94[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10486362	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11974000	0.96[ASN][1000 genomes]
rs12673842	0.99[ASN][1000 genomes]
rs17141813	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17141851	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2072184	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2072185	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2072186	0.87[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs2072187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2158381	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285925	0.81[CEU][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2285927	0.82[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2285928	0.90[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs28545597	0.92[ASN][1000 genomes]
rs28587039	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28756683	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3948699	0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs4721820	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4721821	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58559474	0.97[ASN][1000 genomes]
rs6961959	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs72591432	0.94[ASN][1000 genomes]
rs7802120	0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv524807	chr7:19714156-19803925	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv830918	chr7:19747674-19914527	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19749600-19753200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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