Variant report

Variant	rs4461830
Chromosome Location	chr7:103870219-103870220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103858966..103860906-chr7:103867973..103872038,3	K562	blood:
2	chr7:103848155..103849804-chr7:103868628..103871068,2	MCF-7	breast:
3	chr7:103846534..103850528-chr7:103863639..103871951,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164815	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1035169	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10808128	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10953408	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12056186	0.86[ASN][1000 genomes]
rs12056191	0.87[ASN][1000 genomes]
rs12705180	0.82[AMR][1000 genomes]
rs12705181	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12705187	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12705190	0.85[ASN][1000 genomes]
rs12705195	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13230700	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13238183	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193888	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194849	0.81[AMR][1000 genomes]
rs194858	0.81[AMR][1000 genomes]
rs194859	0.80[AMR][1000 genomes]
rs194865	0.81[AMR][1000 genomes]
rs194868	0.81[AMR][1000 genomes]
rs2160397	0.86[ASN][1000 genomes]
rs2245659	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299409	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2299411	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2385140	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35034355	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3757734	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3779518	0.92[ASN][1000 genomes]
rs3808008	0.80[ASN][1000 genomes]
rs3808009	0.82[AMR][1000 genomes]
rs3808010	0.82[AMR][1000 genomes]
rs4140860	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4265123	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4265124	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385404	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62485910	0.85[ASN][1000 genomes]
rs6948583	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6961262	0.80[ASN][1000 genomes]
rs6967757	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs765408	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781828	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	nsv1029571	chr7:103855890-103909757	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv608066	chr7:103861035-103916484	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv429789	chr7:103862259-103909757	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103865200-103871000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:103865200-103871800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:103870000-103871800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:103870000-103871800	Weak transcription	Stomach Mucosa	stomach
5	chr7:103870200-103870800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:103870200-103871200	Enhancers	Brain Germinal Matrix	brain

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