Variant report

Variant	rs869643
Chromosome Location	chr4:8594156-8594157
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	SMARCB1	chr4:8594066-8595262	Hela-S3	cervix:	n/a	n/a
2	RAD21	chr4:8594022-8594626	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr4:8594057-8594407	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr4:8594099-8594506	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZBTB7A	chr4:8593992-8595284	ECC-1	luminal epithelium:	n/a	n/a
6	ZBTB7A	chr4:8593974-8595368	ECC-1	luminal epithelium:	n/a	n/a
7	MAZ	chr4:8594020-8596559	IMR90	lung:	n/a	chr4:8594030-8594039 chr4:8595737-8595747 chr4:8595259-8595269 chr4:8594665-8594675 chr4:8595137-8595146
8	TEAD4	chr4:8594018-8594439	H1-hESC	embryonic stem cell:	n/a	n/a
9	SP1	chr4:8594122-8594693	H1-hESC	embryonic stem cell:	n/a	chr4:8594376-8594390 chr4:8594370-8594384 chr4:8594320-8594329 chr4:8594318-8594330 chr4:8594299-8594308 chr4:8594299-8594308 chr4:8594318-8594330 chr4:8594659-8594673 chr4:8594297-8594309 chr4:8594320-8594329 chr4:8594665-8594679 chr4:8594369-8594380 chr4:8594298-8594307 chr4:8594319-8594328

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8592274..8594245-chr4:8597755..8599882,2	MCF-7	breast:
2	chr4:8582157..8584012-chr4:8592733..8594974,2	MCF-7	breast:

Variant related genes	Relation type
CPZ	TF binding region
ENSG00000155269	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2302583	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3756174	0.82[EUR][1000 genomes]
rs3756176	0.82[EUR][1000 genomes]
rs3756177	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3756178	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3756179	0.82[EUR][1000 genomes]
rs3756183	0.80[AFR][1000 genomes]
rs3775883	0.80[EUR][1000 genomes]
rs3775887	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3796735	0.82[EUR][1000 genomes]
rs4411969	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4696853	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9799431	0.81[EUR][1000 genomes]
rs9799848	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv878612	chr4:8534283-8618916	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1832730	chr4:8541086-9514568	Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
5	esv1843578	chr4:8541086-9514568	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
6	nsv878613	chr4:8554894-8618916	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv878614	chr4:8554894-8669619	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv878615	chr4:8566758-8625245	Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv878616	chr4:8566758-8669619	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv878617	chr4:8566758-9371116	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv1014219	chr4:8578779-8724531	Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv878618	chr4:8579758-8641696	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv878619	chr4:8579758-8669619	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv878620	chr4:8584879-8674871	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv470015	chr4:8584879-8729638	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv878621	chr4:8584879-9371116	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8573400-8609400	Weak transcription	Right Atrium	heart
2	chr4:8591400-8594200	Genic enhancers	Placenta	Placenta
3	chr4:8592400-8594200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:8593200-8594200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:8593200-8594400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:8593400-8594200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:8593400-8594200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr4:8593400-8594600	Bivalent Enhancer	Fetal Stomach	stomach
9	chr4:8593800-8594200	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr4:8593800-8594200	Bivalent Enhancer	NHDF-Ad	bronchial
11	chr4:8593800-8595600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:8594000-8594200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
13	chr4:8594000-8594200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:8594000-8594200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
15	chr4:8594000-8594200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
16	chr4:8594000-8594200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr4:8594000-8594200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr4:8594000-8594200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:8594000-8594200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:8594000-8594200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:8594000-8594200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:8594000-8594200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:8594000-8594200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:8594000-8594200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
25	chr4:8594000-8594200	Flanking Active TSS	Ovary	ovary
26	chr4:8594000-8594200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr4:8594000-8594200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
28	chr4:8594000-8594200	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr4:8594000-8594200	Bivalent Enhancer	HSMM	muscle
30	chr4:8594000-8594400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
31	chr4:8594000-8594400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr4:8594000-8594400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:8594000-8594400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:8594000-8594400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:8594000-8594400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr4:8594000-8594400	Flanking Bivalent TSS/Enh	Osteobl	bone
37	chr4:8594000-8594600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:8594000-8594800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr4:8594000-8595000	Bivalent Enhancer	Fetal Heart	heart
40	chr4:8594000-8595200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:8594000-8595200	Bivalent Enhancer	Fetal Lung	lung
42	chr4:8594000-8595400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr4:8594000-8595400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:8594000-8596200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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