Variant report

Variant	rs12668582
Chromosome Location	chr7:150657201-150657202
allele	A/C
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	MAFF	chr7:150657046-150657867	K562	blood:	n/a	n/a
2	SPI1	chr7:150656934-150657315	HL-60	blood:	n/a	chr7:150656943-150656950 chr7:150657185-150657198
3	EP300	chr7:150657092-150657845	GM12878	blood:	n/a	chr7:150657158-150657172 chr7:150657142-150657156 chr7:150657829-150657843
4	MYC	chr7:150656814-150657875	K562	blood:	n/a	chr7:150656981-150656990 chr7:150657683-150657693
5	SPI1	chr7:150657021-150657271	K562	blood:	n/a	chr7:150657185-150657198
6	MXI1	chr7:150657122-150657806	K562	blood:	n/a	n/a
7	IRF1	chr7:150657009-150657865	K562	blood:	n/a	n/a
8	MAX	chr7:150656792-150657305	K562	blood:	n/a	chr7:150656981-150656990
9	BHLHE40	chr7:150657029-150658381	K562	blood:	n/a	n/a
10	MAX	chr7:150656908-150658458	K562	blood:	n/a	chr7:150656981-150656990 chr7:150657683-150657693
11	MYC	chr7:150656820-150658376	K562	blood:	n/a	chr7:150656981-150656990 chr7:150657683-150657693
12	NR2F2	chr7:150655617-150657907	K562	blood:	n/a	n/a
13	TAL1	chr7:150656908-150657919	K562	blood:	n/a	n/a
14	EP300	chr7:150657136-150657859	K562	blood:	n/a	chr7:150657158-150657172 chr7:150657142-150657156 chr7:150657829-150657843
15	TEAD4	chr7:150656973-150657914	K562	blood:	n/a	n/a
16	CCNT2	chr7:150657135-150657792	K562	blood:	n/a	n/a
17	TAF1	chr7:150657041-150657751	K562	blood:	n/a	n/a
18	RAD21	chr7:150657147-150657286	K562	blood:	n/a	n/a
19	ELF1	chr7:150656910-150657328	K562	blood:	n/a	chr7:150657162-150657173
20	MAX	chr7:150656962-150658490	NB4	blood:	n/a	chr7:150656981-150656990 chr7:150657683-150657693
21	MAFK	chr7:150657110-150657834	K562	blood:	n/a	n/a
22	GATA1	chr7:150655579-150658587	K562	blood:	n/a	chr7:150657144-150657154 chr7:150656566-150656576 chr7:150657153-150657161 chr7:150655651-150655662
23	CEBPD	chr7:150657069-150658043	K562	blood:	n/a	n/a
24	CTCF	chr7:150657180-150657330	GM06990	blood:	n/a	n/a
25	TRIM28	chr7:150656859-150657967	K562	blood:	n/a	n/a
26	MYC	chr7:150656935-150658465	NB4	blood:	n/a	chr7:150656981-150656990 chr7:150657683-150657693
27	YY1	chr7:150656761-150657309	K562	blood:	n/a	chr7:150657131-150657139
28	YY1	chr7:150656755-150657298	K562	blood:	n/a	chr7:150657131-150657139
29	ARID3A	chr7:150656970-150657875	K562	blood:	n/a	n/a
30	E2F6	chr7:150656733-150657201	K562	blood:	n/a	n/a
31	JUND	chr7:150656991-150657833	K562	blood:	n/a	n/a
32	STAT5A	chr7:150656836-150657932	K562	blood:	n/a	chr7:150657185-150657197 chr7:150657148-150657156
33	TEAD4	chr7:150656837-150657921	K562	blood:	n/a	n/a
34	CTCF	chr7:150657189-150657241	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr7:150657140-150657290	K562	blood:	n/a	n/a
36	ZC3H11A	chr7:150657014-150657775	K562	blood:	n/a	n/a
37	UBTF	chr7:150657088-150658333	K562	blood:	n/a	n/a
38	POLR2A	chr7:150655782-150660598	K562	blood:	n/a	n/a
39	POLR2A	chr7:150657112-150657834	K562	blood:	n/a	n/a
40	CTCF	chr7:150657127-150657283	K562	blood:	n/a	n/a
41	ZNF384	chr7:150656914-150657859	K562	blood:	n/a	chr7:150657824-150657832
42	ZMIZ1	chr7:150657079-150657938	K562	blood:	n/a	n/a
43	STAT2	chr7:150656971-150657794	K562	blood:	n/a	chr7:150657185-150657197 chr7:150657148-150657156
44	MAX	chr7:150655504-150657329	K562	blood:	n/a	chr7:150655604-150655619 chr7:150656981-150656990 chr7:150655604-150655617 chr7:150655606-150655616 chr7:150655607-150655616 chr7:150655605-150655615 chr7:150655607-150655614 chr7:150655605-150655616 chr7:150655605-150655615 chr7:150655605-150655616 chr7:150655606-150655615 chr7:150655606-150655615
45	JUN	chr7:150657110-150657828	K562	blood:	n/a	n/a
46	CTCF	chr7:150657039-150657802	K562	blood:	n/a	n/a
47	CEBPB	chr7:150657064-150657868	K562	blood:	n/a	n/a
48	SMARCA4	chr7:150656907-150657836	K562	blood:	n/a	n/a
49	MYC	chr7:150657014-150657858	K562	blood:	n/a	chr7:150657683-150657693
50	EP300	chr7:150656916-150658450	K562	blood:	n/a	chr7:150657158-150657172 chr7:150657142-150657156 chr7:150657829-150657843

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150654740..150658307-chr7:150674264..150676481,3	MCF-7	breast:
2	chr11:624775..626330-chr7:150656351..150658646,2	K562	blood:

Variant related genes	Relation type
KCNH2	TF binding region
ENSG00000055118	Chromatin interaction
ENSG00000099834	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3807375	0.91[ASN][1000 genomes]
rs4725385	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758890	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758891	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
6	nsv465212	chr7:150598492-150667210	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv609000	chr7:150598492-150667210	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv465213	chr7:150606288-150667210	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv609001	chr7:150606288-150667210	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
14	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
15	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
16	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
17	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
18	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
19	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150652200-150663800	Weak transcription	HSMMtube	muscle
2	chr7:150652600-150662200	Enhancers	Fetal Heart	heart
3	chr7:150652800-150660000	Weak transcription	Gastric	stomach
4	chr7:150652800-150666400	Weak transcription	Brain Angular Gyrus	brain
5	chr7:150653200-150658600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:150653200-150659800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:150653400-150658800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:150653400-150658800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:150653400-150660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:150653400-150660000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:150653600-150658800	Weak transcription	Ovary	ovary
12	chr7:150653600-150659000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:150653600-150659200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:150654000-150658600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:150654800-150658600	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:150655000-150658200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:150655200-150657400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:150655600-150657400	Enhancers	Right Ventricle	heart
19	chr7:150656600-150660200	Flanking Active TSS	K562	blood
20	chr7:150656800-150657600	Enhancers	Primary T cells from cord blood	blood
21	chr7:150657000-150657400	Enhancers	Fetal Muscle Trunk	muscle
22	chr7:150657000-150657600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr7:150657000-150658000	Weak transcription	Fetal Brain Male	brain
24	chr7:150657000-150658200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:150657000-150658400	Enhancers	Fetal Brain Female	brain
26	chr7:150657000-150658800	Enhancers	Placenta	Placenta
27	chr7:150657000-150661800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:150657200-150658000	Weak transcription	Left Ventricle	heart
29	chr7:150657200-150658800	Weak transcription	Right Atrium	heart
30	chr7:150657200-150669600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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