Variant report

Variant	rs570012571
Chromosome Location	chr7:100660489-100660490
allele	G/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	YY1	chr7:100660276-100661061	K562	blood:	n/a	n/a
2	EP300	chr7:100660040-100661082	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:100660033-100661070	GM18505	blood:	n/a	n/a
4	RCOR1	chr7:100660268-100661097	K562	blood:	n/a	n/a
5	MAFK	chr7:100660324-100660974	HepG2	liver:	n/a	n/a
6	ELF1	chr7:100659802-100661122	GM12878	blood:	n/a	chr7:100660411-100660422
7	RFX5	chr7:100660141-100661239	IMR90	lung:	n/a	chr7:100660492-100660506
8	POLR2A	chr7:100659986-100661148	GM12878	blood:	n/a	n/a
9	JUN	chr7:100660204-100661217	K562	blood:	n/a	chr7:100660945-100660953
10	POLR2A	chr7:100659947-100661073	GM19193	blood:	n/a	n/a
11	MTA3	chr7:100660329-100661186	GM12878	blood:	n/a	n/a
12	BHLHE40	chr7:100660487-100660610	K562	blood:	n/a	n/a
13	BHLHE40	chr7:100660484-100661125	GM12878	blood:	n/a	n/a
14	ZNF263	chr7:100660000-100661038	K562	blood:	n/a	chr7:100660149-100660158 chr7:100660791-100660812
15	POLR2A	chr7:100659915-100661066	GM19099	blood:	n/a	n/a
16	MAFK	chr7:100660395-100660561	HepG2	liver:	n/a	n/a
17	JUN	chr7:100660487-100661123	K562	blood:	n/a	chr7:100660945-100660953
18	MXI1	chr7:100660380-100660640	K562	blood:	n/a	n/a
19	POLR2A	chr7:100660442-100661090	K562	blood:	n/a	n/a
20	MXI1	chr7:100660294-100661027	GM12878	blood:	n/a	n/a
21	GABPA	chr7:100660336-100661112	A549	lung:	n/a	n/a
22	SIN3A	chr7:100659980-100660985	H1-hESC	embryonic stem cell:	n/a	chr7:100660369-100660382
23	RCOR1	chr7:100660470-100661056	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:100659891-100661221	GM12892	blood:	n/a	n/a
25	TAF1	chr7:100660240-100660943	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF263	chr7:100660145-100660964	HEK293-T-REx	kidney:	n/a	chr7:100660149-100660158 chr7:100660791-100660812
27	SP1	chr7:100660260-100661140	A549	lung:	n/a	chr7:100660965-100660974 chr7:100660964-100660978 chr7:100660283-100660292 chr7:100660964-100660974 chr7:100660963-100660975 chr7:100660963-100660975
28	POLR2A	chr7:100659968-100661057	H1-hESC	embryonic stem cell:	n/a	n/a
29	ELF1	chr7:100660190-100661197	GM12878	blood:	n/a	chr7:100660411-100660422
30	POLR2A	chr7:100660474-100661137	GM12892	blood:	n/a	n/a
31	POLR2A	chr7:100659996-100661084	GM12878	blood:	n/a	n/a
32	MAFF	chr7:100660326-100660994	HepG2	liver:	n/a	n/a
33	MAZ	chr7:100659685-100661326	IMR90	lung:	n/a	chr7:100660284-100660294
34	POLR2A	chr7:100660274-100661178	GM12878	blood:	n/a	n/a
35	CEBPB	chr7:100660442-100660626	GM12878	blood:	n/a	n/a
36	RUNX3	chr7:100660453-100661091	GM12878	blood:	n/a	n/a
37	TEAD4	chr7:100660206-100661094	K562	blood:	n/a	n/a
38	POLR2A	chr7:100660422-100661093	U87	brain:	n/a	n/a
39	MXI1	chr7:100660343-100660624	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr7:100660292-100661099	U87	brain:	n/a	n/a
41	GABPA	chr7:100660441-100661208	MCF-7	breast:	n/a	n/a
42	RCOR1	chr7:100660416-100660874	K562	blood:	n/a	n/a
43	POLR2A	chr7:100659929-100661122	GM12878	blood:	n/a	n/a
44	MAFK	chr7:100660311-100661041	IMR90	lung:	n/a	n/a
45	RELA	chr7:100659944-100661132	GM12891	blood:	n/a	n/a
46	JUND	chr7:100660429-100661134	K562	blood:	n/a	chr7:100660943-100660954 chr7:100660945-100660953
47	ELF1	chr7:100660266-100660564	HepG2	liver:	n/a	chr7:100660411-100660422
48	GATA3	chr7:100660447-100661151	A549	lung:	n/a	n/a
49	ZNF143	chr7:100660353-100660571	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr7:100660333-100660998	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100486083..100488238-chr7:100659648..100662388,2	MCF-7	breast:
2	chr7:100608767..100609716-chr7:100660411..100661061,2	K562	blood:
3	chr7:100606234..100609871-chr7:100659072..100662376,5	K562	blood:

Variant related genes	Relation type
MUC12	TF binding region
MUC17	TF binding region
ENSG00000169894	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000225946	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription 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	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	esv1836983	chr7:100630638-100669857	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	esv1849981	chr7:100633668-100686761	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv1828583	chr7:100652181-100676353	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv1823966	chr7:100652181-100693849	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv3352938	chr7:100659732-100663130	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv3405131	chr7:100660057-100662805	Enhancers Bivalent Enhancer Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	esv3359760	chr7:100660332-100662580	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100659000-100661000	Enhancers	Spleen	Spleen
2	chr7:100659600-100660600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:100659600-100661000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr7:100659600-100661200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:100659600-100661200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:100659600-100662000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:100659800-100660800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr7:100659800-100661000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:100659800-100661000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:100659800-100661000	Flanking Active TSS	GM12878-XiMat	blood
11	chr7:100659800-100661000	Active TSS	HSMM	muscle
12	chr7:100659800-100661000	Active TSS	NHLF	lung
13	chr7:100659800-100661200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr7:100659800-100661200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr7:100659800-100661200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:100659800-100662000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:100659800-100662000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:100660000-100660600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr7:100660000-100660600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:100660000-100660600	Active TSS	Brain Anterior Caudate	brain
21	chr7:100660000-100660600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr7:100660000-100660800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:100660000-100660800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
27	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
28	chr7:100660000-100660800	Flanking Active TSS	A549	lung
29	chr7:100660000-100660800	Enhancers	HUVEC	blood vessel
30	chr7:100660000-100660800	Flanking Active TSS	K562	blood
31	chr7:100660000-100661000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:100660000-100661000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:100660000-100661000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:100660000-100661000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:100660000-100661000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:100660000-100661000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr7:100660000-100661000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:100660000-100661000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:100660000-100661000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:100660000-100661000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:100660000-100661000	Active TSS	Brain Angular Gyrus	brain
42	chr7:100660000-100661000	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr7:100660000-100661000	Flanking Active TSS	Fetal Brain Female	brain
44	chr7:100660000-100661000	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr7:100660000-100661000	Bivalent Enhancer	Fetal Lung	lung
46	chr7:100660000-100661000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr7:100660000-100661000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
48	chr7:100660000-100661000	Active TSS	Placenta Amnion	Placenta Amnion
49	chr7:100660000-100661000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
50	chr7:100660000-100661000	Flanking Active TSS	HMEC	breast

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