Variant report

Variant	rs10247708
Chromosome Location	chr7:65540135-65540136
allele	A/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	MXI1	chr7:65539989-65542591	SK-N-SH	brain:	n/a	chr7:65541421-65541430

No.	Distal block	Cell Line	Cell type
1	chr7:65534296..65537284-chr7:65539336..65540877,2	K562	blood:
2	chr7:65536010..65538329-chr7:65539255..65541774,2	MCF-7	breast:
3	chr7:65538951..65542131-chr7:65578976..65581332,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205596	TF binding region
ASL	TF binding region
ENSG00000205596	Chromatin interaction
ENSG00000241258	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10081219	1.00[EUR][1000 genomes]
rs10232498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10234562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10246941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10256705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11971942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11979489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11979821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12112556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12113646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28447397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28448305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28460479	1.00[AMR][1000 genomes]
rs28535370	1.00[EUR][1000 genomes]
rs28566023	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28578581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28678527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55983755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73699720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73699756	1.00[EUR][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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv984546	chr7:65531382-65556631	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65534800-65540400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:65535600-65540400	Weak transcription	NHDF-Ad	bronchial
3	chr7:65535800-65540400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:65536800-65540200	Weak transcription	K562	blood
5	chr7:65537600-65540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:65537600-65540200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:65537800-65540200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:65537800-65540400	Weak transcription	Fetal Thymus	thymus
9	chr7:65539600-65540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:65540000-65540200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:65540000-65540200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr7:65540000-65540200	Enhancers	Primary B cells from cord blood	blood
13	chr7:65540000-65540200	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:65540000-65540200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:65540000-65540200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:65540000-65540200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:65540000-65540200	Enhancers	Adipose Nuclei	Adipose
18	chr7:65540000-65540200	Enhancers	Liver	Liver
19	chr7:65540000-65540200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:65540000-65540200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr7:65540000-65541200	Active TSS	Fetal Brain Female	brain

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