Variant report

Variant	rs7690427
Chromosome Location	chr4:78130625-78130626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77996630..77998488-chr4:78129645..78132473,2	MCF-7	breast:
2	chr4:78130169..78132632-chr4:78133437..78136630,3	K562	blood:

Variant related genes	Relation type
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10005142	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10009384	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10010290	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10017014	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10018359	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10020351	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10025838	0.86[JPT][hapmap]
rs10026129	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10026795	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10030727	0.83[EUR][1000 genomes]
rs10030735	0.96[CEU][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs10030867	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10030957	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1006042	0.86[JPT][hapmap]
rs10856957	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097728	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11097729	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11097730	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500115	0.82[EUR][1000 genomes]
rs12504397	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12508219	0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12509168	0.86[JPT][hapmap]
rs12640093	0.86[JPT][hapmap]
rs1477314	0.92[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1559119	0.92[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1559122	0.87[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17397604	0.82[EUR][1000 genomes]
rs1968235	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2042228	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs28503908	0.82[EUR][1000 genomes]
rs4280759	0.86[JPT][hapmap]
rs4285107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4504280	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4536958	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4538513	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4547817	0.86[JPT][hapmap]
rs4563522	0.84[JPT][hapmap]
rs4576030	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4582179	0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4582180	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859475	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859477	0.88[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4859751	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs4859752	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs4859753	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859754	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859755	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859756	0.86[JPT][hapmap]
rs4859758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55663411	0.82[EUR][1000 genomes]
rs6532904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532919	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6532921	0.88[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6822794	0.92[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6838744	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6840915	0.96[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs6844009	0.85[ASN][1000 genomes]
rs6845599	0.96[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs6846698	0.86[JPT][hapmap]
rs6857792	0.96[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000730	chr4:78109138-78210296	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1011551	chr4:78120872-78204224	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1012298	chr4:78120872-78255427	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv997743	chr4:78126462-78217004	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78125200-78143600	Weak transcription	Primary B cells from cord blood	blood
2	chr4:78130600-78131000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:78130600-78131000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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