Variant report

Variant	rs9446853
Chromosome Location	chr6:73855622-73855623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr6:73855425-73855821	GM12878	blood:	n/a	n/a
2	MEF2A	chr6:73855382-73855792	GM12878	blood:	n/a	n/a
3	BATF	chr6:73855406-73855693	GM12878	blood:	n/a	n/a
4	ETS1	chr6:73855304-73855790	GM12878	blood:	n/a	n/a
5	SPI1	chr6:73855426-73855844	GM12891	blood:	n/a	n/a
6	SPI1	chr6:73855523-73855777	GM12878	blood:	n/a	n/a
7	BATF	chr6:73855444-73855746	GM12878	blood:	n/a	n/a
8	NFIC	chr6:73855427-73855707	GM12878	blood:	n/a	n/a
9	RUNX3	chr6:73855465-73855771	GM12878	blood:	n/a	n/a
10	ATF2	chr6:73855453-73855770	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:73846488..73848334-chr6:73855218..73857477,2	K562	blood:
2	6:73855086-73857473..6:74160392-74184826	K562	blood:
3	6:73855086-73857473..6:74078047-74099067	K562	blood:
4	6:73855086-73857473..6:74099986-74112890	K562	blood:
5	6:73855086-73857473..6:74062967-74076046	GM12878	blood:

No data

Variant related genes	Relation type
KCNQ5-AS1	TF binding region
ENSG00000203909	Chromatin interaction
ENSG00000231332	Chromatin interaction
ENSG00000235174	Chromatin interaction
ENSG00000135297	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000224221	Chromatin interaction
ENSG00000203908	Chromatin interaction
ENSG00000207023	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000080007	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10498890	0.87[ASN][1000 genomes]
rs11962533	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1573057	0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1574007	1.00[CEU][hapmap]
rs16883160	1.00[CEU][hapmap]
rs16883380	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs16883387	0.88[CHB][hapmap];0.87[ASN][1000 genomes]
rs2051024	0.88[CHB][hapmap];0.87[EUR][1000 genomes]
rs520570	1.00[CEU][hapmap]
rs58439359	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59347822	0.87[ASN][1000 genomes]
rs6453633	0.82[YRI][hapmap]
rs6906616	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6906825	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6907569	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6912022	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6920341	1.00[CEU][hapmap]
rs6930212	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6934303	1.00[CEU][hapmap]
rs6938067	1.00[CEU][hapmap]
rs7744354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744386	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7744394	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7764373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7764571	0.81[AMR][1000 genomes]
rs7771553	1.00[CEU][hapmap]
rs7771888	1.00[CEU][hapmap]
rs9442873	1.00[CEU][hapmap]
rs9442875	1.00[CEU][hapmap]
rs9442876	1.00[CEU][hapmap]
rs9442895	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9446794	1.00[CEU][hapmap]
rs9446799	1.00[CEU][hapmap]
rs9446800	1.00[CEU][hapmap]
rs9446801	1.00[CEU][hapmap]
rs9446814	1.00[CEU][hapmap]
rs9446816	1.00[CEU][hapmap]
rs9446818	1.00[CEU][hapmap]
rs9446819	1.00[CEU][hapmap]
rs9446820	1.00[CEU][hapmap]
rs9446821	1.00[CEU][hapmap]
rs9446822	1.00[CEU][hapmap]
rs9446823	1.00[CEU][hapmap]
rs9446852	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9446854	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9446856	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9446858	1.00[CEU][hapmap]
rs966427	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv519218	chr6:73845299-73862856	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73844400-73867000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:73844600-73865200	Weak transcription	Primary T cells from cord blood	blood
3	chr6:73844800-73866400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:73846000-73866400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:73846400-73879200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:73853000-73856200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:73854400-73856600	Strong transcription	Primary B cells from cord blood	blood
8	chr6:73854600-73867200	Weak transcription	Aorta	Aorta
9	chr6:73855400-73856200	Enhancers	GM12878-XiMat	blood

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