Variant report

Variant	rs4725385
Chromosome Location	chr7:150654820-150654821
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	ELF1	chr7:150654478-150654981	K562	blood:	n/a	chr7:150654795-150654806 chr7:150654801-150654812 chr7:150654788-150654801
2	RAD21	chr7:150654664-150655203	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr7:150650408-150655424	SK-N-SH	brain:	n/a	chr7:150652963-150652979 chr7:150653418-150653434 chr7:150651359-150651373 chr7:150652430-150652446 chr7:150654796-150654810
4	ELF1	chr7:150654578-150654944	K562	blood:	n/a	chr7:150654795-150654806 chr7:150654801-150654812 chr7:150654788-150654801
5	CTCF	chr7:150654380-150654857	K562	blood:	n/a	n/a
6	RAD21	chr7:150654804-150655089	SK-N-SH_RA	brain:	n/a	n/a
7	MXI1	chr7:150650255-150655330	SK-N-SH	brain:	n/a	chr7:150654842-150654851
8	ZBTB7A	chr7:150654406-150654873	K562	blood:	n/a	n/a
9	EP300	chr7:150654676-150655148	SK-N-SH_RA	brain:	n/a	chr7:150654796-150654810
10	EP300	chr7:150654672-150655231	SK-N-SH_RA	brain:	n/a	chr7:150654796-150654810
11	POLR2A	chr7:150648659-150658458	PBDE	blood:	n/a	n/a
12	SPI1	chr7:150654669-150654878	K562	blood:	n/a	chr7:150654798-150654805 chr7:150654794-150654807

No.	Distal block	Cell Line	Cell type
1	chr7:150654506..150657037-chr7:150811551..150813776,2	MCF-7	breast:
2	chr7:150567773..150569879-chr7:150653213..150655593,2	K562	blood:
3	chr7:150654740..150658307-chr7:150674264..150676481,3	MCF-7	breast:
4	chr7:150653093..150655640-chr7:150657394..150660194,2	MCF-7	breast:
5	chr7:150653312..150655773-chr7:150901970..150904173,2	K562	blood:
6	chr7:150652621..150654850-chr7:150754233..150756879,2	MCF-7	breast:
7	chr7:150642265..150645123-chr7:150653775..150655725,2	MCF-7	breast:

Variant related genes	Relation type
KCNH2	TF binding region
ENSG00000183016	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000055118	Chromatin interaction
ENSG00000164889	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12668582	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807375	0.91[ASN][1000 genomes]
rs758890	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758891	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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 target site	80 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	nsv970969	chr7:150645769-150655995	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
23	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:40 , 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	chr7:150652800-150655000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr7:150652800-150655000	Bivalent Enhancer	Fetal Stomach	stomach
5	chr7:150652800-150655200	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr7:150652800-150660000	Weak transcription	Gastric	stomach
7	chr7:150652800-150666400	Weak transcription	Brain Angular Gyrus	brain
8	chr7:150653200-150655200	Bivalent Enhancer	Fetal Brain Male	brain
9	chr7:150653200-150655800	Bivalent Enhancer	Spleen	Spleen
10	chr7:150653200-150658600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:150653200-150659800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:150653400-150655000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr7:150653400-150658800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:150653400-150658800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:150653400-150660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:150653400-150660000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:150653600-150658800	Weak transcription	Ovary	ovary
18	chr7:150653600-150659000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:150653600-150659200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:150654000-150655400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:150654000-150656400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:150654000-150658600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:150654200-150655800	Genic enhancers	K562	blood
24	chr7:150654400-150655200	Genic enhancers	Stomach Smooth Muscle	stomach
25	chr7:150654400-150655400	Genic enhancers	Right Atrium	heart
26	chr7:150654600-150655400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:150654600-150655600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:150654600-150655600	Genic enhancers	Right Ventricle	heart
29	chr7:150654800-150655000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:150654800-150655000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:150654800-150655000	Bivalent Enhancer	Placenta	Placenta
32	chr7:150654800-150655200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr7:150654800-150655200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr7:150654800-150655200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:150654800-150655400	Weak transcription	Left Ventricle	heart
36	chr7:150654800-150655400	Enhancers	Pancreas	Pancrea
37	chr7:150654800-150656000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
38	chr7:150654800-150656000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:150654800-150656000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:150654800-150658600	Weak transcription	Colon Smooth Muscle	Colon

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