Variant report

Variant	rs11971012
Chromosome Location	chr7:48124831-48124832
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	MXI1	chr7:48124574-48124908	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:48124488-48124902	K562	blood:	n/a	n/a
3	SP1	chr7:48124510-48125068	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:48124502-48124977	HL-60	blood:	n/a	n/a
5	MAX	chr7:48124255-48125052	GM12878	blood:	n/a	n/a
6	SPI1	chr7:48124821-48125340	GM12891	blood:	n/a	n/a
7	FOSL1	chr7:48124248-48125199	HCT-116	colon:	n/a	chr7:48124679-48124687 chr7:48124759-48124766 chr7:48124680-48124687 chr7:48124758-48124766 chr7:48124677-48124688 chr7:48124758-48124766 chr7:48124677-48124689 chr7:48124677-48124688 chr7:48124679-48124687
8	POLR2A	chr7:48124378-48125090	GM12892	blood:	n/a	n/a
9	EP300	chr7:48124485-48124960	GM12878	blood:	n/a	chr7:48124757-48124766 chr7:48124678-48124687
10	BCLAF1	chr7:48124389-48125118	GM12878	blood:	n/a	n/a
11	GATA3	chr7:48124123-48125223	A549	lung:	n/a	chr7:48124677-48124686 chr7:48124756-48124765
12	MAX	chr7:48124216-48125076	SK-N-SH	brain:	n/a	n/a
13	MAX	chr7:48124210-48125340	Hela-S3	cervix:	n/a	n/a
14	NR2F2	chr7:48124390-48125104	MCF-7	breast:	n/a	n/a
15	EP300	chr7:48124396-48125008	SK-N-SH_RA	brain:	n/a	chr7:48124757-48124766 chr7:48124678-48124687
16	SIN3AK20	chr7:48124276-48124993	PANC-1	pancreas:	n/a	n/a
17	RELA	chr7:48124471-48125837	GM19099	blood:	n/a	n/a
18	TAF1	chr7:48124655-48124936	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr7:48124793-48124850	GM13976	blood:	n/a	n/a
20	CTCF	chr7:48124578-48124916	GM12878	blood:	n/a	n/a
21	IRF4	chr7:48124421-48125041	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:48124501-48125099	GM12892	blood:	n/a	n/a
23	GATA2	chr7:48124399-48125324	HUVEC	blood vessel:	n/a	chr7:48124677-48124686 chr7:48124756-48124765
24	PML	chr7:48124586-48124871	GM12878	blood:	n/a	n/a
25	CEBPB	chr7:48124405-48125132	GM12878	blood:	n/a	n/a
26	JUND	chr7:48124248-48125167	K562	blood:	n/a	chr7:48124679-48124687 chr7:48124759-48124766 chr7:48124680-48124687 chr7:48124758-48124766 chr7:48124758-48124766 chr7:48124677-48124689 chr7:48124756-48124767 chr7:48124677-48124688 chr7:48124679-48124687
27	JUND	chr7:48124327-48125824	GM12878	blood:	n/a	chr7:48124679-48124687 chr7:48124759-48124766 chr7:48124680-48124687 chr7:48124758-48124766 chr7:48124758-48124766 chr7:48124677-48124689 chr7:48124756-48124767 chr7:48124677-48124688 chr7:48124679-48124687
28	ZMIZ1	chr7:48124477-48124957	K562	blood:	n/a	n/a
29	ELK1	chr7:48124386-48125138	GM12878	blood:	n/a	n/a
30	STAT1	chr7:48124476-48125057	GM12878	blood:	n/a	n/a
31	FOSL2	chr7:48124366-48124966	A549	lung:	n/a	chr7:48124679-48124687 chr7:48124759-48124766 chr7:48124680-48124687 chr7:48124758-48124766 chr7:48124758-48124766 chr7:48124677-48124689 chr7:48124678-48124689 chr7:48124677-48124688 chr7:48124679-48124687
32	EP300	chr7:48124445-48124991	SK-N-SH_RA	brain:	n/a	chr7:48124757-48124766 chr7:48124678-48124687
33	JUND	chr7:48124188-48125131	SK-N-SH	brain:	n/a	chr7:48124679-48124687 chr7:48124759-48124766 chr7:48124680-48124687 chr7:48124758-48124766 chr7:48124758-48124766 chr7:48124677-48124689 chr7:48124756-48124767 chr7:48124677-48124688 chr7:48124679-48124687
34	YY1	chr7:48124612-48124995	GM12878	blood:	n/a	n/a
35	ATF3	chr7:48124486-48124925	GM12878	blood:	n/a	n/a
36	TCF12	chr7:48124293-48125081	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr7:48124204-48125092	HCT-116	colon:	n/a	n/a
38	BHLHE40	chr7:48124222-48125309	GM12878	blood:	n/a	n/a
39	STAT5A	chr7:48124458-48124966	K562	blood:	n/a	n/a
40	PRDM1	chr7:48124441-48124916	Hela-S3	cervix:	n/a	chr7:48124610-48124625 chr7:48124615-48124624
41	MAFK	chr7:48124343-48124986	IMR90	lung:	n/a	n/a
42	HA-E2F1	chr7:48124311-48124936	MCF-7	breast:	n/a	chr7:48124622-48124634
43	GATA3	chr7:48124382-48125016	A549	lung:	n/a	chr7:48124677-48124686 chr7:48124756-48124765
44	JUN	chr7:48124547-48124889	K562	blood:	n/a	chr7:48124679-48124687 chr7:48124759-48124766 chr7:48124680-48124687 chr7:48124758-48124766 chr7:48124758-48124766 chr7:48124677-48124689 chr7:48124677-48124688 chr7:48124679-48124687
45	HMGN3	chr7:48124539-48124927	K562	blood:	n/a	n/a
46	NFIC	chr7:48124378-48125054	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr7:48124768-48124960	HUVEC	blood vessel:	n/a	n/a
48	FOSL2	chr7:48124311-48125014	MCF-7	breast:	n/a	chr7:48124679-48124687 chr7:48124759-48124766 chr7:48124680-48124687 chr7:48124758-48124766 chr7:48124758-48124766 chr7:48124677-48124689 chr7:48124678-48124689 chr7:48124677-48124688 chr7:48124679-48124687
49	USF1	chr7:48124215-48124943	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr7:48124745-48124898	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:48123072..48126453-chr7:48126684..48130333,8	K562	blood:
2	chr7:48015848..48019189-chr7:48124673..48126576,3	MCF-7	breast:
3	chr7:48121862..48125599-chr7:48127472..48129866,4	MCF-7	breast:
4	chr7:48123914..48126284-chr7:48127753..48130112,2	MCF-7	breast:
5	chr7:48017808..48020027-chr7:48122516..48125165,2	K562	blood:

Variant related genes	Relation type
UPP1	TF binding region
ENSG00000183696	Chromatin interaction
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1522476	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337883	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337891	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48111200-48127600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:48121600-48125400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:48122000-48127800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:48122000-48128000	Enhancers	HMEC	breast
5	chr7:48122200-48127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:48122200-48127800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:48122200-48128000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:48122400-48126400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr7:48122400-48127600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:48122400-48128000	Enhancers	NHLF	lung
11	chr7:48122400-48128200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:48122600-48126600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:48122600-48126800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr7:48122600-48128000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr7:48122600-48128000	Enhancers	NHDF-Ad	bronchial
16	chr7:48122800-48125200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:48122800-48125200	Enhancers	GM12878-XiMat	blood
18	chr7:48122800-48126600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:48122800-48128000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr7:48122800-48128000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:48123000-48127800	Enhancers	HUVEC	blood vessel
22	chr7:48123200-48125600	Weak transcription	Lung	lung
23	chr7:48123200-48126800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:48123200-48127600	Weak transcription	Right Atrium	heart
25	chr7:48123200-48128000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr7:48123400-48125600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:48123400-48127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:48123400-48127600	Weak transcription	Spleen	Spleen
29	chr7:48123600-48126400	Weak transcription	Primary T cells from cord blood	blood
30	chr7:48123800-48128000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:48124000-48125000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:48124000-48125200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr7:48124000-48125600	Enhancers	HSMMtube	muscle
34	chr7:48124000-48127000	Enhancers	Duodenum Mucosa	Duodenum
35	chr7:48124000-48127600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:48124000-48127600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:48124000-48127600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:48124000-48127600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:48124000-48127600	Enhancers	Adipose Nuclei	Adipose
40	chr7:48124000-48127800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:48124000-48127800	Enhancers	Fetal Intestine Small	intestine
42	chr7:48124000-48127800	Enhancers	Stomach Mucosa	stomach
43	chr7:48124000-48127800	Enhancers	HSMM	muscle
44	chr7:48124000-48128000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:48124000-48128000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:48124000-48128000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr7:48124000-48128000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:48124000-48128000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:48124000-48128000	Enhancers	Placenta	Placenta
50	chr7:48124200-48125000	Flanking Active TSS	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links