Variant report

Variant	rs57487518
Chromosome Location	chr9:972393-972394
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	MAX	chr9:971355-972596	H1-hESC	embryonic stem cell:	n/a	chr9:972357-972367
2	EGR1	chr9:971959-972720	H1-hESC	embryonic stem cell:	n/a	chr9:972403-972412 chr9:972044-972054 chr9:972045-972055
3	SUZ12	chr9:972207-974176	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr9:971617-973784	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr9:971960-972483	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr9:972353-972694	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr9:972119-972583	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr9:971431-973249	H1-hESC	embryonic stem cell:	n/a	chr9:973088-973095 chr9:973087-973096 chr9:972357-972367
9	SIN3A	chr9:971990-973192	H1-hESC	embryonic stem cell:	n/a	chr9:972941-972952
10	RAD21	chr9:972172-972507	H1-hESC	embryonic stem cell:	n/a	n/a
11	GTF2F1	chr9:972061-972393	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr9:970320-973357	H1-hESC	embryonic stem cell:	n/a	chr9:972045-972054 chr9:972887-972895 chr9:972135-972146 chr9:972169-972178 chr9:972887-972895 chr9:971791-971798 chr9:973012-973024
13	SP1	chr9:971924-972741	H1-hESC	embryonic stem cell:	n/a	chr9:972075-972084 chr9:972046-972055 chr9:972045-972054 chr9:972046-972055 chr9:972044-972056 chr9:972352-972366 chr9:972045-972055 chr9:972044-972056 chr9:972076-972085 chr9:972041-972055 chr9:972386-972393 chr9:972045-972055
14	SUZ12	chr9:972157-978361	NT2-D1	testis:	n/a	n/a
15	POLR2A	chr9:972027-972422	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF143	chr9:971964-972949	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:971648..973169-chr9:976261..977886,2	MCF-7	breast:
2	chr9:970488..973347-chr9:974585..976403,2	K562	blood:
3	chr9:962191..965396-chr9:970150..972525,3	MCF-7	breast:
4	chr9:959751..962676-chr9:970259..973174,2	K562	blood:

Variant related genes	Relation type
DMRT3	TF binding region
ENSG00000064218	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10121975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16927146	1.00[EUR][1000 genomes]
rs16928356	1.00[EUR][1000 genomes]
rs35541630	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55815241	1.00[EUR][1000 genomes]
rs57558840	1.00[EUR][1000 genomes]
rs59155009	1.00[EUR][1000 genomes]
rs60301829	1.00[EUR][1000 genomes]
rs60678247	1.00[AMR][1000 genomes]
rs7041977	1.00[EUR][1000 genomes]
rs73380471	1.00[EUR][1000 genomes]
rs73380482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382412	1.00[EUR][1000 genomes]
rs73382420	1.00[EUR][1000 genomes]
rs73382438	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382440	1.00[EUR][1000 genomes]
rs73386518	1.00[EUR][1000 genomes]
rs73386558	1.00[EUR][1000 genomes]
rs7390001	1.00[EUR][1000 genomes]
rs7859422	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025492	chr9:478813-1157169	Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv539897	chr9:478813-1157169	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription 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	26 gene(s)	inside rSNPs	diseases
3	nsv429977	chr9:584087-983301	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv613037	chr9:643453-1138368	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases
5	nsv892000	chr9:678951-972476	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv817248	chr9:706283-1457665	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv831491	chr9:794113-974142	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv892010	chr9:841152-1069663	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1034070	chr9:911265-1152351	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv2755928	chr9:924525-985979	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv892013	chr9:943611-1047343	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1018926	chr9:965006-1014141	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:969400-973200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr9:969400-973400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr9:969600-973200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr9:969600-973400	Bivalent Enhancer	Lung	lung
5	chr9:969800-972400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr9:969800-973200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr9:969800-973200	Bivalent Enhancer	Fetal Lung	lung
8	chr9:970600-973000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:970600-973000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr9:970800-972400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr9:970800-972800	Bivalent/Poised TSS	Psoas Muscle	Psoas
12	chr9:971200-973400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr9:971400-972400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr9:971400-972400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr9:971400-972400	Flanking Active TSS	Right Ventricle	heart
16	chr9:971400-972600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr9:971400-972800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr9:971400-972800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
19	chr9:971400-972800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr9:971400-973000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:971400-973000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr9:971400-973200	Bivalent Enhancer	Fetal Heart	heart
23	chr9:971400-973600	Bivalent Enhancer	Liver	Liver
24	chr9:971400-973800	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr9:971600-972400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:971600-972400	Bivalent Enhancer	Primary B cells from cord blood	blood
27	chr9:971600-972400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
28	chr9:971600-972400	Flanking Bivalent TSS/Enh	Ovary	ovary
29	chr9:971600-972600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
30	chr9:971600-972600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
31	chr9:971600-972600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
32	chr9:971600-972600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:971600-972600	Active TSS	Aorta	Aorta
34	chr9:971600-972800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:971600-972800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
36	chr9:971600-972800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
37	chr9:971600-972800	Flanking Bivalent TSS/Enh	Thymus	Thymus
38	chr9:971600-973000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr9:971600-973200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:971600-973400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
41	chr9:971600-973800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr9:971800-972400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:971800-972400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:971800-972400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:971800-972400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
46	chr9:971800-972400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
47	chr9:971800-972400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr9:971800-972400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
49	chr9:971800-972600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:971800-972600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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