Variant report

Variant	rs735597
Chromosome Location	chr7:26588918-26588919
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:26588906-26589907	Hela-S3	cervix:	n/a	n/a
2	RAD21	chr7:26588786-26589287	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr7:26588879-26589156	HepG2	liver:	n/a	n/a
4	CTCF	chr7:26588880-26589030	HCT-116	colon:	n/a	n/a
5	YY1	chr7:26588889-26589216	ECC-1	luminal epithelium:	n/a	n/a
6	SMARCC1	chr7:26588875-26589795	Hela-S3	cervix:	n/a	n/a
7	SMARCB1	chr7:26588866-26590632	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26416529..26417384-chr7:26588868..26589443,2	MCF-7	breast:
2	chr7:26582972..26584768-chr7:26586705..26589472,2	K562	blood:
3	chr7:26586327..26589450-chr7:26590701..26593328,3	MCF-7	breast:
4	chr7:26588899..26589576-chr7:26706937..26707768,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233760	TF binding region
ENSG00000233760	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12700747	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700750	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700751	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13226226	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13232483	0.94[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16874129	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17153862	0.93[CEU][hapmap];0.99[EUR][1000 genomes]
rs17285297	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17357184	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17357205	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17357240	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014867	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107997	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28708490	1.00[ASN][1000 genomes]
rs34100461	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34349657	0.94[EUR][1000 genomes]
rs34362204	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34396699	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34577165	0.99[EUR][1000 genomes]
rs34655544	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34714573	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34934672	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35742990	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35757731	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs71521772	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768715	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26578800-26591600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr7:26579400-26589000	Weak transcription	Fetal Thymus	thymus
3	chr7:26582400-26592200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:26585200-26589000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:26586800-26595600	Weak transcription	Fetal Kidney	kidney
6	chr7:26588000-26595000	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:26588000-26596600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:26588200-26589000	Enhancers	Hela-S3	cervix
9	chr7:26588200-26590600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:26588200-26590600	Enhancers	HMEC	breast
11	chr7:26588800-26589000	Enhancers	Lung	lung
12	chr7:26588800-26589800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:26588800-26589800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr7:26588800-26590600	Enhancers	NHEK	skin
15	chr7:26588800-26591000	Enhancers	Spleen	Spleen

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