Variant report

Variant	rs4760731
Chromosome Location	chr12:48170758-48170759
allele	A/G
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	BACH1	chr12:48167393-48171096	K562	blood:	n/a	n/a
2	JUND	chr12:48170408-48170776	K562	blood:	n/a	chr12:48170648-48170656 chr12:48170646-48170658
3	MAZ	chr12:48170268-48170973	K562	blood:	n/a	n/a
4	MAX	chr12:48170220-48171037	K562	blood:	n/a	chr12:48170889-48170899
5	MYC	chr12:48170282-48170780	K562	blood:	n/a	n/a
6	MAX	chr12:48170343-48171018	K562	blood:	n/a	chr12:48170889-48170899
7	RFX5	chr12:48170514-48170831	Hela-S3	cervix:	n/a	chr12:48170643-48170651
8	BHLHE40	chr12:48170285-48170831	K562	blood:	n/a	n/a
9	MAX	chr12:48170723-48170992	K562	blood:	n/a	chr12:48170889-48170899
10	MAFF	chr12:48170403-48170972	K562	blood:	n/a	chr12:48170616-48170634 chr12:48170639-48170657
11	POLR2A	chr12:48168539-48189348	K562	blood:	n/a	n/a
12	POLR2A	chr12:48170448-48170758	Hela-S3	cervix:	n/a	n/a
13	NFE2	chr12:48170476-48170818	K562	blood:	n/a	chr12:48170647-48170656 chr12:48170645-48170655 chr12:48170641-48170656 chr12:48170646-48170656
14	MAX	chr12:48170618-48170769	Hela-S3	cervix:	n/a	n/a
15	MAFF	chr12:48170503-48170787	HepG2	liver:	n/a	chr12:48170616-48170634 chr12:48170639-48170657
16	MAX	chr12:48170462-48171011	NB4	blood:	n/a	chr12:48170889-48170899
17	MAFK	chr12:48170238-48170890	K562	blood:	n/a	chr12:48170621-48170632 chr12:48170617-48170632 chr12:48170646-48170656 chr12:48170642-48170653 chr12:48170642-48170653 chr12:48170646-48170655 chr12:48170641-48170656
18	EP300	chr12:48170409-48170979	K562	blood:	n/a	n/a
19	USF2	chr12:48170742-48170892	K562	blood:	n/a	n/a
20	POLR2A	chr12:48168398-48172336	K562	blood:	n/a	n/a
21	CEBPB	chr12:48170494-48170785	K562	blood:	n/a	n/a
22	TBL1XR1	chr12:48170518-48170797	K562	blood:	n/a	n/a
23	POLR2A	chr12:48168343-48171457	ECC-1	luminal epithelium:	n/a	n/a
24	MAFK	chr12:48170469-48170825	HepG2	liver:	n/a	chr12:48170621-48170632 chr12:48170617-48170632 chr12:48170646-48170656 chr12:48170642-48170653 chr12:48170642-48170653 chr12:48170646-48170655 chr12:48170641-48170656
25	MAFK	chr12:48170420-48170901	IMR90	lung:	n/a	chr12:48170621-48170632 chr12:48170617-48170632 chr12:48170646-48170656 chr12:48170642-48170653 chr12:48170642-48170653 chr12:48170646-48170655 chr12:48170641-48170656
26	BACH1	chr12:48170473-48170914	H1-hESC	embryonic stem cell:	n/a	n/a
27	RCOR1	chr12:48170457-48170890	K562	blood:	n/a	n/a
28	TEAD4	chr12:48170330-48171049	K562	blood:	n/a	n/a
29	MAFK	chr12:48170483-48170855	H1-hESC	embryonic stem cell:	n/a	chr12:48170621-48170632 chr12:48170617-48170632 chr12:48170646-48170656 chr12:48170642-48170653 chr12:48170642-48170653 chr12:48170646-48170655 chr12:48170641-48170656
30	CUX1	chr12:48170630-48170820	K562	blood:	n/a	n/a
31	MAFK	chr12:48170475-48170803	HepG2	liver:	n/a	chr12:48170621-48170632 chr12:48170617-48170632 chr12:48170646-48170656 chr12:48170642-48170653 chr12:48170642-48170653 chr12:48170646-48170655 chr12:48170641-48170656
32	POLR2A	chr12:48170647-48171126	ECC-1	luminal epithelium:	n/a	n/a
33	MAFK	chr12:48170456-48170832	Hela-S3	cervix:	n/a	chr12:48170621-48170632 chr12:48170617-48170632 chr12:48170646-48170656 chr12:48170642-48170653 chr12:48170642-48170653 chr12:48170646-48170655 chr12:48170641-48170656
34	GATA1	chr12:48169825-48172116	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48131407..48141823-chr12:48163910..48172152,16	MCF-7	breast:
2	chr12:48144826..48150380-chr12:48164026..48173211,11	K562	blood:
3	chr12:48128880..48137705-chr12:48169546..48175532,12	K562	blood:
4	chr12:48146385..48148128-chr12:48169147..48171417,2	MCF-7	breast:
5	chr12:48167072..48170834-chr12:48185439..48188659,3	K562	blood:
6	chr12:48108589..48112284-chr12:48169450..48173129,5	MCF-7	breast:
7	chr12:48098316..48105030-chr12:48164986..48170762,10	K562	blood:
8	chr12:48151546..48154324-chr12:48167290..48171021,4	K562	blood:
9	chr12:48133332..48136237-chr12:48168778..48170961,2	MCF-7	breast:

Variant related genes	Relation type
SLC48A1	TF binding region
ENSG00000257433	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000111405	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10875690	0.90[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11168223	0.83[AMR][1000 genomes]
rs11168227	0.91[CEU][hapmap];0.89[AMR][1000 genomes]
rs11168231	0.89[CEU][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2238142	0.91[CEU][hapmap];0.80[JPT][hapmap];0.90[AMR][1000 genomes]
rs2301783	0.91[CEU][hapmap];0.82[AMR][1000 genomes]
rs3815137	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7397928	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7973677	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
4	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48167400-48172400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:48167600-48174000	Enhancers	Spleen	Spleen
3	chr12:48168000-48170800	Weak transcription	Fetal Brain Male	brain
4	chr12:48168000-48172000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:48168000-48172200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:48168000-48172200	Enhancers	Primary B cells from cord blood	blood
7	chr12:48168000-48172200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:48168000-48172200	Enhancers	Right Ventricle	heart
9	chr12:48168000-48172400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:48168000-48172400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:48168000-48172600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:48168000-48172800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:48168000-48173000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:48168000-48173000	Enhancers	Lung	lung
15	chr12:48168000-48173000	Enhancers	Right Atrium	heart
16	chr12:48168000-48173200	Enhancers	Placenta	Placenta
17	chr12:48168000-48173200	Enhancers	Ovary	ovary
18	chr12:48168000-48173600	Enhancers	Left Ventricle	heart
19	chr12:48168000-48173800	Enhancers	Colon Smooth Muscle	Colon
20	chr12:48168000-48173800	Enhancers	Esophagus	oesophagus
21	chr12:48168000-48174000	Enhancers	Fetal Thymus	thymus
22	chr12:48168000-48174200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:48168000-48174800	Weak transcription	Fetal Intestine Large	intestine
24	chr12:48168000-48175000	Weak transcription	NH-A	brain
25	chr12:48168000-48175400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:48168000-48177200	Weak transcription	Small Intestine	intestine
27	chr12:48168200-48171400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:48168200-48171400	Enhancers	NHLF	lung
29	chr12:48168200-48171800	Weak transcription	Fetal Heart	heart
30	chr12:48168200-48172000	Flanking Active TSS	K562	blood
31	chr12:48168200-48172400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr12:48168200-48172400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr12:48168200-48172600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:48168200-48172600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:48168200-48172600	Enhancers	Osteobl	bone
36	chr12:48168200-48172800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:48168200-48172800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:48168200-48172800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:48168200-48173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:48168200-48173000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:48168200-48173000	Enhancers	NHDF-Ad	bronchial
42	chr12:48168200-48173200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:48168200-48173200	Enhancers	Primary hematopoietic stem cells	blood
44	chr12:48168200-48173200	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:48168200-48173200	Enhancers	HMEC	breast
46	chr12:48168200-48173400	Weak transcription	Fetal Intestine Small	intestine
47	chr12:48168200-48173600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:48168200-48173600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:48168200-48173600	Enhancers	Adipose Nuclei	Adipose
50	chr12:48168200-48173600	Enhancers	Fetal Muscle Leg	muscle

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