Variant report

Variant	rs72832826
Chromosome Location	chr2:111553506-111553507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr2:111553473-111553747	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111547853..111550075-chr2:111552499..111554115,2	K562	blood:
2	chr2:111547853..111550512-chr2:111551809..111553999,2	K562	blood:

Variant related genes	Relation type
ACOXL	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs13388313	0.92[ASN][1000 genomes]
rs17041539	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17041553	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17041554	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17041555	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17041561	1.00[EUR][1000 genomes]
rs17464100	0.89[ASN][1000 genomes]
rs28452164	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34026418	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3817265	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4255970	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55682108	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55780486	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55849112	0.82[EUR][1000 genomes]
rs55857945	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55875504	0.82[EUR][1000 genomes]
rs55875530	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55927063	0.82[EUR][1000 genomes]
rs56010803	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56031628	0.82[EUR][1000 genomes]
rs56062220	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56110941	0.82[EUR][1000 genomes]
rs56146538	0.82[EUR][1000 genomes]
rs56165253	0.82[EUR][1000 genomes]
rs56169320	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56177778	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56181028	0.82[EUR][1000 genomes]
rs56202720	0.80[AMR][1000 genomes]
rs56238325	0.82[EUR][1000 genomes]
rs56260092	0.82[EUR][1000 genomes]
rs56272335	0.82[EUR][1000 genomes]
rs56281800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56289191	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56320021	0.82[EUR][1000 genomes]
rs57101781	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57318054	0.82[EUR][1000 genomes]
rs57847126	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57862073	0.82[EUR][1000 genomes]
rs58054304	0.82[EUR][1000 genomes]
rs58569659	0.82[EUR][1000 genomes]
rs58588523	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59258102	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59413237	0.82[EUR][1000 genomes]
rs60185821	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60357733	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61124407	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61376946	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66616139	0.82[EUR][1000 genomes]
rs72828843	0.82[EUR][1000 genomes]
rs72828844	0.82[EUR][1000 genomes]
rs72828845	0.82[EUR][1000 genomes]
rs72828846	0.82[EUR][1000 genomes]
rs72828849	0.82[EUR][1000 genomes]
rs72828851	0.82[EUR][1000 genomes]
rs72828852	0.82[EUR][1000 genomes]
rs72828854	0.82[EUR][1000 genomes]
rs72828856	0.82[EUR][1000 genomes]
rs72828857	0.82[EUR][1000 genomes]
rs72828859	0.82[EUR][1000 genomes]
rs72828861	0.82[EUR][1000 genomes]
rs72830976	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72830979	0.82[EUR][1000 genomes]
rs72830980	0.82[EUR][1000 genomes]
rs72830982	0.82[EUR][1000 genomes]
rs72830984	0.82[EUR][1000 genomes]
rs72830985	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72830986	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72830989	0.82[EUR][1000 genomes]
rs72830990	0.94[AMR][1000 genomes]
rs72830993	0.82[EUR][1000 genomes]
rs72830995	0.85[ASN][1000 genomes]
rs72830996	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72830997	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72831000	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832803	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72832804	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832809	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832810	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832812	0.92[ASN][1000 genomes]
rs72832813	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832815	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832816	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832817	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832818	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832820	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832821	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832822	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832824	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832828	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832837	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832838	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832839	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832840	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72832841	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832842	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832843	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832846	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72832854	0.82[EUR][1000 genomes]
rs7592058	0.92[ASN][1000 genomes]
rs977406	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs981196	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111531200-111566200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:111531600-111556800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:111531600-111558600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:111547200-111554000	Weak transcription	Fetal Brain Female	brain
5	chr2:111551200-111555000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:111552200-111555400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:111552200-111556000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:111552400-111556200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:111552400-111557800	Weak transcription	Fetal Heart	heart
10	chr2:111552600-111554000	Weak transcription	Right Atrium	heart
11	chr2:111552600-111567400	Weak transcription	Right Ventricle	heart
12	chr2:111552800-111554000	Weak transcription	Fetal Brain Male	brain
13	chr2:111552800-111554000	Weak transcription	Pancreas	Pancrea
14	chr2:111552800-111556200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:111553000-111555600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:111553000-111556400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:111553200-111554800	Enhancers	Fetal Lung	lung
18	chr2:111553200-111556600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:111553400-111555400	Enhancers	Fetal Muscle Leg	muscle
20	chr2:111553400-111558200	Weak transcription	Left Ventricle	heart

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