Variant report

Variant	rs17844778
Chromosome Location	chr4:8583312-8583313
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	REST	chr4:8581681-8583317	PFSK-1	brain:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8581723-8581743 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
2	REST	chr4:8582051-8583326	PFSK-1	brain:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
3	REST	chr4:8581856-8583317	ECC-1	luminal epithelium:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
4	REST	chr4:8581805-8583645	PFSK-1	brain:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465
5	REST	chr4:8582052-8583336	PANC-1	pancreas:	n/a	chr4:8582442-8582460 chr4:8582443-8582453 chr4:8582441-8582461 chr4:8582441-8582455 chr4:8582448-8582461 chr4:8582441-8582461 chr4:8582441-8582461 chr4:8582486-8582499 chr4:8582447-8582456 chr4:8582452-8582461 chr4:8582445-8582458 chr4:8582455-8582465

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8582157..8584012-chr4:8592733..8594974,2	MCF-7	breast:
2	chr4:8506167..8508857-chr4:8582205..8583898,2	MCF-7	breast:

Variant related genes	Relation type
GPR78	TF binding region
ENSG00000109625	Chromatin interaction
ENSG00000205959	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17844775	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17844776	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17844777	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55810243	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843979	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857501	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857510	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	esv3487948	chr4:8581052-8584350	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv3487949	chr4:8581052-8584350	Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv3327663	chr4:8582302-8584800	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8573400-8609400	Weak transcription	Right Atrium	heart
2	chr4:8581800-8583400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:8582000-8583400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr4:8582000-8583600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr4:8582200-8583400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:8582200-8583400	Flanking Active TSS	Placenta	Placenta
7	chr4:8582200-8583600	ZNF genes & repeats	Spleen	Spleen
8	chr4:8582600-8583400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:8582800-8583400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:8582800-8583400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:8582800-8583400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr4:8582800-8583600	ZNF genes & repeats	Esophagus	oesophagus
13	chr4:8583000-8583400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr4:8583000-8583400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:8583000-8583600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr4:8583000-8583800	ZNF genes & repeats	Gastric	stomach
17	chr4:8583000-8584000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:8583200-8583400	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:8583200-8583400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr4:8583200-8583400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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