Variant report

Variant	rs17572766
Chromosome Location	chr3:142891763-142891764
allele	A/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	KAP1	chr3:142891658-142892660	K562	blood:	n/a	n/a
2	STAT3	chr3:142891743-142891770	MCF10A-Er-Src	breast:	n/a	n/a
3	SETDB1	chr3:142891094-142892872	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142889368..142891930-chr3:142894381..142895952,2	K562	blood:
2	chr3:142889235..142895118-chr3:142897231..142901814,7	K562	blood:

Variant related genes	Relation type
PBX2P1	TF binding region
ENSG00000244171	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10049327	0.85[ASN][1000 genomes]
rs16853100	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853102	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572584	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6779211	0.83[AFR][1000 genomes]
rs73159645	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73159646	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159648	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159649	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159650	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159652	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159656	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159657	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv34280	chr3:142887460-142962075	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142887800-142891800	Enhancers	Primary B cells from cord blood	blood
2	chr3:142888200-142891800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:142888600-142891800	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:142889000-142891800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:142889200-142891800	Enhancers	Fetal Stomach	stomach
6	chr3:142889200-142891800	Enhancers	NHLF	lung
7	chr3:142889600-142891800	Flanking Active TSS	Fetal Thymus	thymus
8	chr3:142889800-142892000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr3:142890000-142892000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr3:142890200-142891800	Enhancers	Primary hematopoietic stem cells	blood
11	chr3:142890200-142891800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:142890200-142891800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:142890200-142892000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr3:142890400-142892000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr3:142890600-142891800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:142890600-142892000	Flanking Active TSS	Dnd41	blood
17	chr3:142890800-142891800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr3:142891000-142891800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:142891000-142891800	Flanking Active TSS	Fetal Lung	lung
20	chr3:142891000-142891800	Flanking Active TSS	Thymus	Thymus
21	chr3:142891000-142893400	ZNF genes & repeats	GM12878-XiMat	blood
22	chr3:142891400-142891800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr3:142891400-142894400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr3:142891600-142891800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr3:142891600-142891800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:142891600-142891800	Enhancers	Spleen	Spleen
27	chr3:142891600-142892600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr3:142891600-142894800	Enhancers	Primary T cells from cord blood	blood
29	chr3:142891600-142897000	Weak transcription	Monocytes-CD14+_RO01746	blood

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