Variant report

Variant	rs12126870
Chromosome Location	chr1:209844444-209844445
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	TEAD4	chr1:209843310-209844599	ECC-1	luminal epithelium:	n/a	n/a
2	CEBPB	chr1:209843525-209844516	Hela-S3	cervix:	n/a	n/a
3	EP300	chr1:209843601-209844537	ECC-1	luminal epithelium:	n/a	chr1:209844178-209844192
4	FOS	chr1:209843611-209844586	MCF10A-Er-Src	breast:	n/a	chr1:209843907-209843919 chr1:209843910-209843921
5	TCF12	chr1:209843567-209844546	ECC-1	luminal epithelium:	n/a	n/a
6	GTF2F1	chr1:209843892-209844504	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr1:209843667-209844585	ECC-1	luminal epithelium:	n/a	n/a
8	ESR1	chr1:209843802-209844547	ECC-1	luminal epithelium:	n/a	n/a
9	FOXM1	chr1:209843559-209844586	ECC-1	luminal epithelium:	n/a	n/a
10	TCF12	chr1:209843491-209844684	ECC-1	luminal epithelium:	n/a	n/a
11	STAT3	chr1:209843502-209844615	MCF10A-Er-Src	breast:	n/a	chr1:209843897-209843905 chr1:209844177-209844189
12	CEBPB	chr1:209843411-209844479	ECC-1	luminal epithelium:	n/a	n/a
13	ESR1	chr1:209843693-209844625	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr1:209843537-209844766	ECC-1	luminal epithelium:	n/a	n/a
15	NFIC	chr1:209843434-209845013	ECC-1	luminal epithelium:	n/a	chr1:209844255-209844272
16	EP300	chr1:209843510-209844756	ECC-1	luminal epithelium:	n/a	chr1:209844178-209844192
17	FOS	chr1:209843611-209844473	MCF10A-Er-Src	breast:	n/a	chr1:209843907-209843919 chr1:209843910-209843921
18	ESR1	chr1:209843646-209844628	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr1:209843854-209844487	ECC-1	luminal epithelium:	n/a	n/a
20	ESR1	chr1:209843754-209844504	ECC-1	luminal epithelium:	n/a	n/a
21	NFIC	chr1:209843542-209844721	ECC-1	luminal epithelium:	n/a	chr1:209844255-209844272
22	RAD21	chr1:209843699-209844521	ECC-1	luminal epithelium:	n/a	chr1:209844029-209844043 chr1:209844028-209844042

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209844097..209846070-chr1:209847217..209849817,2	K562	blood:
2	chr1:209842347..209844579-chr1:209845900..209848303,2	MCF-7	breast:

Variant related genes	Relation type
G0S2	TF binding region
ENSG00000227591	Chromatin interaction
ENSG00000123689	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs58788672	1.00[ASN][1000 genomes]
rs72468060	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209831400-209846200	Weak transcription	Right Ventricle	heart
2	chr1:209832400-209846600	Weak transcription	Right Atrium	heart
3	chr1:209841600-209846200	Weak transcription	Fetal Intestine Large	intestine
4	chr1:209842800-209845600	Enhancers	Psoas Muscle	Psoas
5	chr1:209843000-209845200	Weak transcription	K562	blood
6	chr1:209843000-209845800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr1:209843400-209844800	Enhancers	Fetal Heart	heart
8	chr1:209843400-209848200	Enhancers	HMEC	breast
9	chr1:209843600-209844600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:209843600-209844600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr1:209843600-209845200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:209843600-209845200	Enhancers	NHEK	skin
13	chr1:209843600-209845400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr1:209843800-209844600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:209843800-209844800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr1:209843800-209845200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:209843800-209846400	Enhancers	Liver	Liver
18	chr1:209843800-209848200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:209844000-209844600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:209844000-209844800	Flanking Active TSS	Hela-S3	cervix
21	chr1:209844000-209845400	Enhancers	Left Ventricle	heart
22	chr1:209844000-209848200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:209844200-209844600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:209844200-209844800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:209844200-209845000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr1:209844200-209848200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:209844400-209844600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:209844400-209844600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr1:209844400-209844600	Enhancers	Small Intestine	intestine
30	chr1:209844400-209846400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:209844400-209846400	Weak transcription	Pancreas	Pancrea
32	chr1:209844400-209847800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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