Variant report

Variant	rs56289221
Chromosome Location	chr2:96839457-96839458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000158050	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000228873	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11539221	0.88[EUR][1000 genomes]
rs11539223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17119362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17119627	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17419569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs29000576	0.96[EUR][1000 genomes]
rs55908923	0.96[EUR][1000 genomes]
rs67677651	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72825836	0.96[EUR][1000 genomes]
rs72825837	0.96[EUR][1000 genomes]
rs72825845	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72825861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72937811	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9333567	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3435047	chr2:96836850-96890437	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96814400-96840000	Weak transcription	Right Atrium	heart
2	chr2:96828200-96850000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:96830600-96850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:96831000-96840000	Weak transcription	Spleen	Spleen
5	chr2:96831400-96839800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:96831400-96840000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:96831800-96839800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:96835200-96840000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:96835200-96841600	Weak transcription	NHLF	lung
10	chr2:96835400-96841600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:96837800-96849800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:96838000-96850200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:96838600-96839600	Weak transcription	K562	blood
14	chr2:96839400-96840400	Enhancers	Thymus	Thymus
15	chr2:96839400-96840600	Enhancers	Fetal Thymus	thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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