Variant report

Variant	rs7013140
Chromosome Location	chr8:90999617-90999618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr8:90999482-90999942	SH-SY5Y	brain:	n/a	n/a
2	EP300	chr8:90999309-91000218	SK-N-SH	brain:	n/a	n/a
3	EP300	chr8:90999507-90999850	SK-N-SH_RA	brain:	n/a	n/a
4	EBF1	chr8:90999328-90999653	GM12878	blood:	n/a	chr8:90999477-90999488

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
2	chr8:90998390..91000393-chr8:91233072..91236190,4	K562	blood:
3	chr8:90718183..90720246-chr8:90997582..90999794,2	MCF-7	breast:
4	chr8:90998439..91000014-chr8:91233072..91235645,2	K562	blood:
5	chr8:90999290..91002068-chr8:91002362..91003933,2	MCF-7	breast:
6	chr8:90998510..91002003-chr8:91006940..91009288,3	MCF-7	breast:
7	chr8:90999485..91002271-chr8:91003873..91006059,2	MCF-7	breast:

No data

Variant related genes	Relation type
NBN	TF binding region
ENSG00000251136	Chromatin interaction
ENSG00000253394	Chromatin interaction
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10091400	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10098170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10099102	0.87[ASN][1000 genomes]
rs1024156	1.00[CHB][hapmap]
rs10282890	0.87[ASN][1000 genomes]
rs10504886	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10504887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1076559	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10956407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11989543	0.92[AMR][1000 genomes]
rs11989795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11991697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11992856	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11992886	1.00[CHB][hapmap]
rs11995294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11998021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12114835	0.87[ASN][1000 genomes]
rs13312839	0.87[ASN][1000 genomes]
rs13312846	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13312973	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13312981	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13312987	1.00[CHB][hapmap]
rs16901426	1.00[CHB][hapmap]
rs16901712	1.00[CHB][hapmap]
rs1805785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1805805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.83[MKK][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1805820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1805829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1805866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1805879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs28654557	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6470477	1.00[CHB][hapmap]
rs6470521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6985667	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6986890	1.00[CHB][hapmap]
rs6992671	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6998280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6998735	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7000851	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7001024	1.00[CHB][hapmap]
rs7004411	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7004759	1.00[CHB][hapmap]
rs7005583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7009268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7017304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs717873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72550706	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs741779	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7812899	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7813356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs7818989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7821822	1.00[CEU][hapmap]
rs7823833	0.87[ASN][1000 genomes]
rs7828593	1.00[CHB][hapmap]
rs7829683	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7831876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs7834469	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7837423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7840431	0.87[ASN][1000 genomes]
rs972376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs983925	1.00[CHB][hapmap];1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

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	chr8:90999200-90999800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:90999400-90999800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:90999400-90999800	Enhancers	HMEC	breast
7	chr8:90999600-91000000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:90999600-91004600	Weak transcription	NHEK	skin

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