Variant report

Variant	rs61520432
Chromosome Location	chr2:9791809-9791810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9790369..9792598-chr2:9793390..9795838,2	MCF-7	breast:
2	chr2:9782754..9784911-chr2:9790958..9792910,2	K562	blood:
3	chr2:9769830..9773614-chr2:9790561..9793295,3	MCF-7	breast:
4	chr2:9769294..9772872-chr2:9790798..9795039,4	MCF-7	breast:
5	chr2:9782904..9785147-chr2:9789937..9793084,3	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10185981	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12615784	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13418911	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16867105	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16867106	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16867107	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4622693	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4668627	0.93[ASN][1000 genomes]
rs4669405	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4669406	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4669407	0.93[ASN][1000 genomes]
rs55886075	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58645709	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66484704	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66493547	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67630365	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67988353	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68170954	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72777064	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72777070	0.93[ASN][1000 genomes]
rs7607750	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7608996	0.82[EUR][1000 genomes];0.94[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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9784000-9792400	Weak transcription	Brain Substantia Nigra	brain
2	chr2:9786600-9792400	Weak transcription	Spleen	Spleen
3	chr2:9786800-9792600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:9787000-9792400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:9787200-9792600	Weak transcription	Ovary	ovary
6	chr2:9789200-9792600	Weak transcription	Fetal Heart	heart
7	chr2:9789400-9796600	Weak transcription	Gastric	stomach
8	chr2:9789400-9797600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:9789600-9794400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:9789600-9795800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:9789600-9796400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:9789800-9793000	Weak transcription	A549	lung
13	chr2:9789800-9794400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:9790800-9794600	Weak transcription	Placenta	Placenta
15	chr2:9790800-9797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:9790800-9799200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:9790800-9801000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:9791000-9792400	Weak transcription	Brain Anterior Caudate	brain
19	chr2:9791000-9792800	Weak transcription	GM12878-XiMat	blood
20	chr2:9791000-9794400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:9791000-9794400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:9791000-9794800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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