Variant report

Variant	rs13253380
Chromosome Location	chr8:67052744-67052745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67025222..67027125-chr8:67051798..67053628,2	MCF-7	breast:
2	chr8:67046137..67048325-chr8:67052622..67055145,2	K562	blood:
3	chr8:67052382..67055131-chr8:67068247..67071130,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253190	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10100725	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10113415	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10957366	0.96[ASN][1000 genomes]
rs11778990	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11780171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785596	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11993997	0.96[ASN][1000 genomes]
rs11997605	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13252033	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13252592	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs13253129	0.84[ASN][1000 genomes]
rs13256041	0.81[AMR][1000 genomes]
rs13257752	0.90[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs13261922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262438	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13264487	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13266516	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13274510	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13276881	0.89[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13279522	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs13282248	1.00[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16932626	0.92[EUR][1000 genomes]
rs1870394	0.90[CHB][hapmap]
rs2004424	0.92[EUR][1000 genomes]
rs28825143	0.84[ASN][1000 genomes]
rs3210836	0.92[EUR][1000 genomes]
rs4262310	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4419797	0.90[CHB][hapmap];0.90[CHD][hapmap]
rs4628244	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4737225	0.92[EUR][1000 genomes]
rs6159	0.83[ASN][1000 genomes]
rs6472246	0.90[CHB][hapmap];0.92[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6472247	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6472248	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6990045	0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6990839	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6999100	0.95[CHB][hapmap];0.92[CHD][hapmap];0.80[GIH][hapmap];0.88[ASN][1000 genomes]
rs7006611	0.94[JPT][hapmap]
rs7009913	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7010033	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7014971	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7016922	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71515499	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7824630	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7825257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7827531	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7835214	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7843077	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs884839	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9298109	0.91[JPT][hapmap]
rs9298110	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr8:67042600-67069200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:67044000-67057800	Weak transcription	Liver	Liver
3	chr8:67047600-67055000	Genic enhancers	HSMMtube	muscle
4	chr8:67048800-67053000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr8:67049000-67052800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:67049400-67053800	Enhancers	Left Ventricle	heart
7	chr8:67049800-67052800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:67049800-67055800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr8:67050200-67058200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:67050400-67053800	Weak transcription	Right Atrium	heart
11	chr8:67051000-67052800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:67051800-67054200	Weak transcription	K562	blood
13	chr8:67051800-67058000	Strong transcription	HSMM	muscle
14	chr8:67051800-67059600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr8:67051800-67066000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:67052000-67052800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:67052000-67052800	Weak transcription	Psoas Muscle	Psoas
18	chr8:67052400-67055200	Enhancers	Fetal Muscle Leg	muscle
19	chr8:67052600-67052800	Flanking Active TSS	Fetal Heart	heart
20	chr8:67052600-67054000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr8:67052600-67055800	Enhancers	Right Ventricle	heart

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