Variant report

Variant	rs11264326
Chromosome Location	chr1:155092807-155092808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:155092608-155093044	MCF-7	breast:	n/a	n/a
2	JUND	chr1:155092750-155093057	K562	blood:	n/a	n/a
3	GATA1	chr1:155092305-155094100	K562	blood:	n/a	n/a
4	TEAD4	chr1:155092546-155093172	K562	blood:	n/a	n/a
5	GATA3	chr1:155092431-155093410	MCF-7	breast:	n/a	n/a
6	IRF1	chr1:155092724-155093008	K562	blood:	n/a	n/a
7	NR2F2	chr1:155092539-155093134	MCF-7	breast:	n/a	n/a
8	MYC	chr1:155092712-155093039	K562	blood:	n/a	n/a
9	GATA3	chr1:155092671-155093100	MCF-7	breast:	n/a	n/a
10	SIN3AK20	chr1:155092559-155093339	MCF-7	breast:	n/a	n/a
11	ZNF217	chr1:155092697-155093115	MCF-7	breast:	n/a	n/a
12	GATA3	chr1:155092629-155093070	T-47D	breast:	n/a	n/a
13	UBTF	chr1:155092686-155092938	K562	blood:	n/a	n/a
14	RCOR1	chr1:155092621-155093100	K562	blood:	n/a	n/a
15	NR2F2	chr1:155092594-155093186	MCF-7	breast:	n/a	n/a
16	EP300	chr1:155092762-155093103	K562	blood:	n/a	n/a
17	GATA3	chr1:155092501-155093256	MCF-7	breast:	n/a	n/a
18	TCF7L2	chr1:155092673-155093004	MCF-7	breast:	n/a	n/a
19	MAX	chr1:155092687-155092944	K562	blood:	n/a	n/a
20	UBTF	chr1:155092775-155092819	K562	blood:	n/a	n/a
21	MAX	chr1:155092638-155093183	MCF-7	breast:	n/a	n/a
22	MAX	chr1:155092709-155092952	K562	blood:	n/a	n/a
23	POLR2A	chr1:155092714-155093281	K562	blood:	n/a	n/a
24	MAX	chr1:155092666-155093004	K562	blood:	n/a	n/a
25	MAZ	chr1:155092765-155092999	K562	blood:	n/a	n/a
26	MYC	chr1:155092660-155093018	K562	blood:	n/a	n/a
27	TAL1	chr1:155092731-155093078	K562	blood:	n/a	n/a
28	TBP	chr1:155092778-155093113	K562	blood:	n/a	n/a
29	FOXA1	chr1:155092643-155092965	T-47D	breast:	n/a	n/a
30	FOXA1	chr1:155092681-155092995	T-47D	breast:	n/a	n/a
31	MYC	chr1:155092801-155092858	MCF-7	breast:	n/a	n/a
32	GATA3	chr1:155092600-155093111	T-47D	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155049589..155073019-chr1:155085330..155115362,149	MCF-7	breast:
2	chr1:155092552..155095095-chr1:155160179..155163739,4	MCF-7	breast:
3	chr1:155023157..155025347-chr1:155091508..155094393,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202027	TF binding region
ENSG00000143537	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000185499	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10908457	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11264324	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11264325	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12081692	1.00[EUR][1000 genomes]
rs12126992	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13375955	1.00[EUR][1000 genomes]
rs1462854	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28670060	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57157364	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58925616	0.94[EUR][1000 genomes]
rs66474937	0.98[EUR][1000 genomes]
rs67333363	0.90[EUR][1000 genomes]
rs72702273	0.90[EUR][1000 genomes]
rs72702285	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72702288	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72702293	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73001391	1.00[EUR][1000 genomes]
rs7517158	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517162	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7548383	0.88[AMR][1000 genomes];1.00[EUR][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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv998756	chr1:155080090-155136545	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
6	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155078600-155098400	Weak transcription	Right Atrium	heart
2	chr1:155089200-155093400	Weak transcription	Gastric	stomach
3	chr1:155089200-155095000	Weak transcription	Hela-S3	cervix
4	chr1:155089600-155096800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:155090200-155093000	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr1:155090200-155094000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:155091400-155097000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:155091800-155097000	Weak transcription	Colonic Mucosa	Colon
9	chr1:155092200-155094200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:155092400-155093000	Enhancers	K562	blood
11	chr1:155092400-155093600	Enhancers	Placenta	Placenta
12	chr1:155092400-155094000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:155092400-155094000	Enhancers	Fetal Intestine Large	intestine
14	chr1:155092600-155093000	Enhancers	HepG2	liver
15	chr1:155092600-155093400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:155092600-155093600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:155092600-155094000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:155092600-155094000	Enhancers	Fetal Intestine Small	intestine
19	chr1:155092600-155094200	Enhancers	Stomach Mucosa	stomach
20	chr1:155092800-155093000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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