Variant report

Variant	rs12940584
Chromosome Location	chr17:33888311-33888312
allele	C/T
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	CUX1	chr17:33887798-33888317	K562	blood:	n/a	n/a
2	JUN	chr17:33886291-33888438	K562	blood:	n/a	chr17:33886818-33886827
3	NR2F2	chr17:33887385-33888450	K562	blood:	n/a	n/a
4	EP300	chr17:33887733-33888380	K562	blood:	n/a	chr17:33887994-33888007
5	GATA1	chr17:33886451-33888410	PBDE	blood:	n/a	chr17:33887269-33887278 chr17:33886818-33886828 chr17:33887966-33887979 chr17:33887266-33887282 chr17:33887266-33887282 chr17:33886754-33886765
6	GATA1	chr17:33887512-33888405	K562	blood:	n/a	chr17:33887966-33887979
7	ARID3A	chr17:33887700-33888455	K562	blood:	n/a	n/a
8	EP300	chr17:33887662-33888328	K562	blood:	n/a	chr17:33887994-33888007

No.	Distal block	Cell Line	Cell type
1	chr17:33864569..33869358-chr17:33886341..33888790,5	K562	blood:
2	chr17:33883508..33885797-chr17:33888017..33890924,2	MCF-7	breast:
3	chr17:33886372..33890944-chr17:33891247..33895229,11	K562	blood:

Variant related genes	Relation type
SLFN14	TF binding region
ENSG00000267321	Chromatin interaction
ENSG00000205045	Chromatin interaction
ENSG00000267035	Chromatin interaction
ENSG00000242660	Chromatin interaction
ENSG00000236320	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11650225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11650621	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11651380	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11652390	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11653354	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11654542	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11655098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs11656872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11657558	1.00[ASN][1000 genomes]
rs12451876	1.00[CHB][hapmap]
rs12604067	0.82[CEU][hapmap]
rs12936539	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12936693	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12939138	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939481	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12940422	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12941376	1.00[YRI][hapmap]
rs12943224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12945102	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12945419	1.00[YRI][hapmap]
rs12945980	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12947274	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12949877	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12951703	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1350010	1.00[CHB][hapmap]
rs16971217	0.82[CEU][hapmap]
rs17606150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17608253	1.00[ASN][1000 genomes]
rs17638076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17669281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17670584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17676508	1.00[ASN][1000 genomes]
rs34063751	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34874930	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34937989	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35209981	0.85[AFR][1000 genomes]
rs35390377	0.85[AFR][1000 genomes]
rs35515868	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35672532	1.00[ASN][1000 genomes]
rs35774966	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61752107	0.80[AFR][1000 genomes]
rs71381460	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381461	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71381464	0.81[AFR][1000 genomes]
rs71381465	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71381467	1.00[ASN][1000 genomes]
rs71381469	1.00[ASN][1000 genomes]
rs7216628	1.00[CHB][hapmap]
rs8066132	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr17:33870400-33888600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr17:33883400-33888600	Enhancers	Primary hematopoietic stem cells	blood
3	chr17:33886000-33888400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:33886800-33888600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr17:33886800-33889600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:33887800-33888600	Enhancers	Fetal Thymus	thymus
7	chr17:33888200-33888400	Flanking Active TSS	K562	blood

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