Variant report

Variant	rs10253514
Chromosome Location	chr7:102621945-102621946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102618985..102623059-chr7:102696660..102699924,3	K562	blood:
2	chr7:102620399..102622083-chr7:102705547..102707771,2	K562	blood:
3	chr7:102619656..102622103-chr7:102669784..102672550,2	K562	blood:

Variant related genes	Relation type
ENSG00000236226	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10156027	0.80[AFR][1000 genomes]
rs10225811	0.80[AFR][1000 genomes]
rs10232029	0.80[AFR][1000 genomes]
rs10239891	1.00[YRI][hapmap]
rs10241815	1.00[ASW][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs10241827	0.80[AFR][1000 genomes]
rs10241926	0.80[AFR][1000 genomes]
rs10242506	0.85[AFR][1000 genomes]
rs10245037	1.00[YRI][hapmap]
rs10252006	1.00[YRI][hapmap]
rs10255596	0.80[AFR][1000 genomes]
rs10259126	1.00[YRI][hapmap]
rs10260888	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10261565	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap]
rs10277828	0.80[AFR][1000 genomes]
rs10281578	1.00[ASW][hapmap]
rs28452903	0.80[AFR][1000 genomes]
rs28894762	0.80[AFR][1000 genomes]
rs58593428	0.80[AFR][1000 genomes]
rs58612464	0.85[AFR][1000 genomes]
rs6949710	0.80[AFR][1000 genomes]
rs6951111	0.80[AFR][1000 genomes]
rs6953456	0.80[AFR][1000 genomes]
rs6970026	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap]
rs7792008	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv5881	chr7:102610488-102655699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102613000-102625600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:102613200-102631200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:102617600-102623600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:102618400-102630000	Weak transcription	Right Atrium	heart
5	chr7:102619400-102625600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:102620200-102625600	Weak transcription	Aorta	Aorta
7	chr7:102621400-102623200	Genic enhancers	K562	blood

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