Variant report

Variant	rs72698128
Chromosome Location	chr1:154391819-154391820
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	EBF1	chr1:154391640-154392027	GM12878	blood:	n/a	n/a
2	FOXA2	chr1:154390425-154392800	HepG2	liver:	n/a	n/a
3	FOXA2	chr1:154391752-154392542	A549	lung:	n/a	n/a
4	RCOR1	chr1:154390889-154393122	IMR90	lung:	n/a	n/a
5	FOSL2	chr1:154390446-154393114	A549	lung:	n/a	chr1:154390915-154390925 chr1:154390796-154390806 chr1:154390796-154390806 chr1:154390796-154390806 chr1:154390915-154390925 chr1:154390796-154390806 chr1:154390915-154390925 chr1:154392881-154392892 chr1:154392705-154392717
6	MAFF	chr1:154391692-154392318	HepG2	liver:	n/a	chr1:154391949-154391967
7	TCF7L2	chr1:154391736-154392498	Hela-S3	cervix:	n/a	chr1:154392327-154392337 chr1:154391767-154391776
8	CTCF	chr1:154391720-154391870	HCPEpiC	choroid plexus:	n/a	n/a
9	POLR2A	chr1:154391404-154392216	HepG2	liver:	n/a	n/a
10	MYBL2	chr1:154391761-154392512	HepG2	liver:	n/a	n/a
11	FOS	chr1:154391765-154392381	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr1:154391506-154392323	HepG2	liver:	n/a	n/a
13	MAX	chr1:154390427-154392539	A549	lung:	n/a	chr1:154390784-154390794 chr1:154391813-154391824 chr1:154390784-154390793 chr1:154390780-154390795 chr1:154390785-154390792
14	TCF12	chr1:154390398-154393151	A549	lung:	n/a	chr1:154392054-154392061 chr1:154392345-154392353 chr1:154392053-154392063 chr1:154392052-154392059
15	MAZ	chr1:154391599-154393121	IMR90	lung:	n/a	chr1:154391813-154391824
16	SMARCC1	chr1:154390643-154392964	Hela-S3	cervix:	n/a	n/a
17	MYC	chr1:154391646-154392392	MCF10A-Er-Src	breast:	n/a	chr1:154391813-154391824
18	FOS	chr1:154391669-154392382	MCF10A-Er-Src	breast:	n/a	n/a
19	SPI1	chr1:154391479-154391854	GM12891	blood:	n/a	n/a
20	MAFK	chr1:154391795-154392404	IMR90	lung:	n/a	chr1:154391951-154391966 chr1:154391952-154391963 chr1:154391951-154391967 chr1:154391951-154391962 chr1:154391951-154391962
21	MAFK	chr1:154391804-154392317	HepG2	liver:	n/a	chr1:154391951-154391966 chr1:154391952-154391963 chr1:154391951-154391967 chr1:154391951-154391962 chr1:154391951-154391962
22	FOS	chr1:154391772-154392408	MCF10A-Er-Src	breast:	n/a	n/a
23	MAX	chr1:154391717-154392542	HepG2	liver:	n/a	chr1:154391813-154391824
24	USF2	chr1:154391775-154391878	Hela-S3	cervix:	n/a	chr1:154391813-154391824
25	MAFK	chr1:154391778-154392386	HepG2	liver:	n/a	chr1:154391951-154391966 chr1:154391952-154391963 chr1:154391951-154391967 chr1:154391951-154391962 chr1:154391951-154391962
26	MYC	chr1:154390465-154392406	MCF10A-Er-Src	breast:	n/a	chr1:154390784-154390794 chr1:154391813-154391824 chr1:154390784-154390793 chr1:154390780-154390795 chr1:154390785-154390792
27	STAT3	chr1:154391635-154392408	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154391165..154392681-chr1:154400544..154403018,2	MCF-7	breast:
2	chr1:154390738..154393594-chr1:154404302..154405878,2	MCF-7	breast:
3	chr1:154389919..154393695-chr1:154401054..154406684,7	MCF-7	breast:
4	chr1:154390689..154395033-chr1:154398195..154400850,6	MCF-7	breast:
5	chr1:154376615..154383856-chr1:154388009..154396723,15	MCF-7	breast:
6	chr1:154390635..154393744-chr1:154405909..154408395,3	MCF-7	breast:
7	chr1:154376358..154381143-chr1:154387661..154394028,20	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228264	TF binding region
ENSG00000228013	Chromatin interaction
ENSG00000160712	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12090237	1.00[EUR][1000 genomes]
rs34806329	1.00[EUR][1000 genomes]
rs55886061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698118	1.00[EUR][1000 genomes]
rs72698123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698126	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7411976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154383000-154402800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:154384200-154392000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:154388600-154394200	Enhancers	Left Ventricle	heart
4	chr1:154388800-154392200	Enhancers	Colon Smooth Muscle	Colon
5	chr1:154389000-154392800	Enhancers	Right Ventricle	heart
6	chr1:154389000-154395800	Enhancers	Pancreas	Pancrea
7	chr1:154389000-154402800	Enhancers	Stomach Mucosa	stomach
8	chr1:154389200-154397000	Enhancers	Esophagus	oesophagus
9	chr1:154389800-154392000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:154390400-154392200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:154390400-154392200	Enhancers	Brain Anterior Caudate	brain
12	chr1:154390400-154394600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:154390600-154392000	Enhancers	Brain Hippocampus Middle	brain
14	chr1:154390600-154392200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:154390600-154392200	Enhancers	NH-A	brain
16	chr1:154390600-154392400	Enhancers	HUVEC	blood vessel
17	chr1:154390600-154392600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:154390600-154392800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:154390600-154392800	Enhancers	Fetal Brain Male	brain
20	chr1:154390600-154392800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr1:154390600-154393400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:154390600-154393600	Enhancers	Colonic Mucosa	Colon
23	chr1:154390600-154393600	Enhancers	Fetal Stomach	stomach
24	chr1:154390600-154394000	Enhancers	Fetal Heart	heart
25	chr1:154390600-154394200	Enhancers	Spleen	Spleen
26	chr1:154390600-154394400	Enhancers	Right Atrium	heart
27	chr1:154390600-154397400	Enhancers	Brain Angular Gyrus	brain
28	chr1:154390800-154392000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:154390800-154392200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:154390800-154392200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:154390800-154392200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:154390800-154392400	Enhancers	Liver	Liver
33	chr1:154390800-154392600	Flanking Active TSS	HepG2	liver
34	chr1:154390800-154392800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr1:154390800-154393000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:154390800-154393000	Flanking Active TSS	Hela-S3	cervix
37	chr1:154390800-154393400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:154390800-154393600	Enhancers	Small Intestine	intestine
39	chr1:154390800-154393800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:154390800-154393800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:154390800-154393800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr1:154390800-154394000	Enhancers	GM12878-XiMat	blood
43	chr1:154390800-154394200	Enhancers	Primary B cells from peripheral blood	blood
44	chr1:154390800-154394200	Enhancers	Fetal Muscle Trunk	muscle
45	chr1:154390800-154394200	Enhancers	Fetal Muscle Leg	muscle
46	chr1:154390800-154394200	Enhancers	Ovary	ovary
47	chr1:154390800-154394200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr1:154390800-154397400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:154390800-154397400	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:154390800-154398000	Enhancers	Placenta	Placenta

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