Variant report

Variant	rs2538487
Chromosome Location	chr7:120690590-120690591
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	CEBPB	chr7:120690402-120690775	HepG2	liver:	n/a	chr7:120690573-120690584 chr7:120690590-120690601
2	CEBPB	chr7:120690444-120690665	K562	blood:	n/a	chr7:120690573-120690584 chr7:120690590-120690601
3	POLR2A	chr7:120690422-120691398	K562	blood:	n/a	n/a
4	CEBPB	chr7:120689564-120690826	Hela-S3	cervix:	n/a	chr7:120690573-120690584 chr7:120690590-120690601
5	CEBPB	chr7:120690448-120690672	IMR90	lung:	n/a	chr7:120690573-120690584 chr7:120690590-120690601
6	CEBPB	chr7:120690437-120690691	H1-hESC	embryonic stem cell:	n/a	chr7:120690573-120690584 chr7:120690590-120690601
7	CEBPB	chr7:120690472-120690642	HepG2	liver:	n/a	chr7:120690573-120690584 chr7:120690590-120690601

No.	Distal block	Cell Line	Cell type
1	chr7:120684359..120686005-chr7:120688473..120690743,2	MCF-7	breast:
2	chr7:120689743..120691904-chr7:120700225..120703183,2	K562	blood:
3	chr7:120685095..120691151-chr7:120712234..120720635,10	K562	blood:

Variant related genes	Relation type
HMGN1P18	TF binding region
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10085563	1.00[ASN][1000 genomes]
rs10224864	1.00[ASN][1000 genomes]
rs10233922	0.97[ASN][1000 genomes]
rs12706307	1.00[ASN][1000 genomes]
rs12706308	1.00[ASN][1000 genomes]
rs12706309	0.98[ASN][1000 genomes]
rs12706310	1.00[ASN][1000 genomes]
rs1986767	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2110276	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2160010	1.00[ASN][1000 genomes]
rs2160011	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160012	1.00[ASN][1000 genomes]
rs2538485	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721325	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721326	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721336	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721337	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721340	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721345	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908570	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4727917	1.00[ASN][1000 genomes]
rs4730988	1.00[ASN][1000 genomes]
rs4730991	1.00[ASN][1000 genomes]
rs6466764	1.00[ASN][1000 genomes]
rs6965415	1.00[ASN][1000 genomes]
rs6970871	1.00[ASN][1000 genomes]
rs7784837	0.98[ASN][1000 genomes]
rs7794369	1.00[ASN][1000 genomes]
rs7808593	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120673800-120694200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:120682200-120695800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
4	chr7:120682600-120692000	Weak transcription	Fetal Stomach	stomach
5	chr7:120682800-120700800	Weak transcription	Fetal Kidney	kidney
6	chr7:120683800-120690800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:120684000-120694000	Weak transcription	Small Intestine	intestine
8	chr7:120687800-120706600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:120688400-120690800	Weak transcription	Aorta	Aorta
10	chr7:120689000-120691200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr7:120689200-120691200	Enhancers	Liver	Liver
12	chr7:120689200-120691200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr7:120689400-120691000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:120689400-120691200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:120689400-120691200	Enhancers	Hela-S3	cervix
16	chr7:120689600-120690600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:120689600-120690800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:120689600-120691000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:120689600-120709400	Weak transcription	HSMMtube	muscle
20	chr7:120689800-120690800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:120689800-120690800	Weak transcription	NHLF	lung
22	chr7:120689800-120698200	Weak transcription	Spleen	Spleen
23	chr7:120690000-120691000	Enhancers	Placenta	Placenta
24	chr7:120690000-120691000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr7:120690200-120690600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr7:120690200-120690600	Weak transcription	Psoas Muscle	Psoas
27	chr7:120690200-120690800	Weak transcription	Left Ventricle	heart
28	chr7:120690200-120690800	Weak transcription	Ovary	ovary
29	chr7:120690200-120692000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:120690200-120696200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:120690200-120709000	Weak transcription	Right Ventricle	heart
32	chr7:120690200-120709400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:120690400-120690800	Weak transcription	Adipose Nuclei	Adipose
34	chr7:120690400-120691400	Genic enhancers	K562	blood
35	chr7:120690400-120692200	Weak transcription	HSMM	muscle
36	chr7:120690400-120693200	Weak transcription	Fetal Heart	heart
37	chr7:120690400-120694000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:120690400-120704200	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:120690400-120704400	Weak transcription	NHDF-Ad	bronchial
40	chr7:120690400-120709000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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