Variant report

Variant	rs11989543
Chromosome Location	chr8:91003434-91003435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90917254..90919157-chr8:91001242..91003446,2	K562	blood:
2	chr8:91001841..91004677-chr8:91011322..91014082,3	MCF-7	breast:
3	chr8:90999290..91002068-chr8:91002362..91003933,2	MCF-7	breast:
4	chr8:90985980..90988201-chr8:91001629..91004012,2	MCF-7	breast:
5	chr8:91001359..91005873-chr8:91011034..91014755,7	MCF-7	breast:
6	chr8:90891348..90893141-chr8:91002737..91005355,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104325	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10099102	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10282890	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10504886	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10504887	1.00[EUR][1000 genomes]
rs1076559	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10956407	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986818	1.00[EUR][1000 genomes]
rs11989795	1.00[EUR][1000 genomes]
rs11991697	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992856	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995294	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11998021	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13312839	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13312846	1.00[EUR][1000 genomes]
rs1805785	0.87[AFR][1000 genomes]
rs1805805	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1805820	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1805829	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1805866	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1805879	1.00[EUR][1000 genomes]
rs28376519	1.00[EUR][1000 genomes]
rs28654557	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58332188	1.00[EUR][1000 genomes]
rs6470521	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6985667	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992671	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998280	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005583	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009268	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7013140	0.92[AMR][1000 genomes]
rs7017304	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs717873	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72550706	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs741779	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812899	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813356	1.00[EUR][1000 genomes]
rs7818989	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7821822	1.00[EUR][1000 genomes]
rs7823833	1.00[EUR][1000 genomes]
rs7831876	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834469	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837423	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7840431	1.00[EUR][1000 genomes]
rs972376	0.83[AMR][1000 genomes];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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv971247	chr8:91001504-91007330	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90997000-91004600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:90997200-91005600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:90997600-91005200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:90999600-91004600	Weak transcription	NHEK	skin
5	chr8:90999800-91004800	Weak transcription	HMEC	breast
6	chr8:90999800-91005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:91000000-91012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:91002400-91005000	Weak transcription	K562	blood

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