Variant report

Variant	rs73159647
Chromosome Location	chr3:142884269-142884270
allele	C/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	FOXM1	chr3:142883366-142884738	GM12878	blood:	n/a	n/a
2	CEBPB	chr3:142883198-142884304	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:142884216-142884711	GM12892	blood:	n/a	n/a
4	MTA3	chr3:142883647-142884790	GM12878	blood:	n/a	n/a
5	EP300	chr3:142883656-142884327	GM12878	blood:	n/a	chr3:142884210-142884224
6	EBF1	chr3:142883705-142884895	GM12878	blood:	n/a	n/a
7	STAT3	chr3:142883764-142884865	MCF10A-Er-Src	breast:	n/a	chr3:142884671-142884680 chr3:142883857-142883865 chr3:142884670-142884679
8	NFIC	chr3:142883432-142884308	GM12878	blood:	n/a	n/a
9	MTA3	chr3:142883117-142884823	GM12878	blood:	n/a	n/a
10	TBL1XR1	chr3:142883482-142884300	GM12878	blood:	n/a	n/a
11	RUNX3	chr3:142883535-142884792	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:142883866-142884735	MCF10A-Er-Src	breast:	n/a	n/a
13	IKZF1	chr3:142883658-142884751	GM12878	blood:	n/a	n/a
14	STAT3	chr3:142883764-142884420	GM12878	blood:	n/a	chr3:142883857-142883865
15	RCOR1	chr3:142883366-142884478	GM12878	blood:	n/a	n/a
16	ATF2	chr3:142883498-142884818	GM12878	blood:	n/a	n/a
17	YY1	chr3:142884151-142884393	GM12892	blood:	n/a	n/a
18	ATF2	chr3:142884217-142884797	GM12878	blood:	n/a	n/a
19	YY1	chr3:142884132-142884410	GM12891	blood:	n/a	n/a
20	NFIC	chr3:142883215-142884946	GM12878	blood:	n/a	n/a
21	FOS	chr3:142883877-142884854	MCF10A-Er-Src	breast:	n/a	chr3:142884671-142884679 chr3:142884672-142884679 chr3:142884671-142884680
22	FOXM1	chr3:142883524-142884819	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142837036..142839934-chr3:142882781..142884331,2	K562	blood:
2	chr3:142841180..142845810-chr3:142884202..142887242,4	K562	blood:

Variant related genes	Relation type
ENSG00000211483	TF binding region
ENSG00000175040	Chromatin interaction
ENSG00000241679	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10049327	0.85[ASN][1000 genomes]
rs16853100	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853102	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572584	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17572766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159645	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73159646	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159648	0.84[AFR][1000 genomes];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	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159652	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159656	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159657	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	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
6	nsv529013	chr3:142877227-142888043	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142877800-142886000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:142879600-142886600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:142881200-142888600	Enhancers	Primary T cells from cord blood	blood
4	chr3:142881800-142885200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr3:142882000-142884800	Enhancers	Fetal Lung	lung
6	chr3:142882000-142885000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr3:142882000-142888400	Enhancers	Dnd41	blood
8	chr3:142882000-142891600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:142882200-142884400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:142882200-142884600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr3:142882200-142889000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr3:142882400-142885200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr3:142882400-142889600	Enhancers	Fetal Thymus	thymus
14	chr3:142882600-142884600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:142882600-142884600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr3:142882800-142884400	Enhancers	Placenta	Placenta
17	chr3:142882800-142884800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr3:142882800-142889200	Weak transcription	Fetal Stomach	stomach
19	chr3:142883000-142885200	Enhancers	Primary hematopoietic stem cells	blood
20	chr3:142883200-142884600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:142883600-142884600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:142883600-142884600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr3:142883600-142884600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr3:142883600-142887800	Weak transcription	Primary B cells from cord blood	blood
25	chr3:142883800-142884600	Enhancers	Adipose Nuclei	Adipose
26	chr3:142883800-142884600	Enhancers	Thymus	Thymus
27	chr3:142883800-142884600	Enhancers	NHLF	lung
28	chr3:142883800-142885400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:142884000-142884600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:142884000-142884600	Flanking Active TSS	GM12878-XiMat	blood
31	chr3:142884000-142884800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:142884000-142885200	Enhancers	HUVEC	blood vessel
33	chr3:142884000-142885600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:142884000-142891600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:142884200-142884400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:142884200-142884400	Enhancers	Duodenum Mucosa	Duodenum
37	chr3:142884200-142884400	Enhancers	Spleen	Spleen
38	chr3:142884200-142884600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:142884200-142884600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr3:142884200-142884600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:142884200-142884600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr3:142884200-142884600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:142884200-142884600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr3:142884200-142884600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:142884200-142884600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:142884200-142884600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr3:142884200-142884600	Enhancers	NH-A	brain
48	chr3:142884200-142884600	Enhancers	Osteobl	bone
49	chr3:142884200-142884800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:142884200-142884800	Enhancers	Primary T cells fromperipheralblood	blood

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