Variant report

Variant	rs67581965
Chromosome Location	chr2:209126243-209126244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209119259..209121288-chr2:209125251..209126787,2	K562	blood:
2	chr2:209123964..209126958-chr2:209128019..209130689,2	K562	blood:
3	chr2:209048413..209050423-chr2:209125192..209127904,2	K562	blood:

Variant related genes	Relation type
ENSG00000231908	Chromatin interaction
ENSG00000138413	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10174541	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10186350	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10194539	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10198535	1.00[ASN][1000 genomes]
rs10202116	1.00[ASN][1000 genomes]
rs10497897	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10497898	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11538998	0.84[AFR][1000 genomes]
rs11554137	1.00[ASN][1000 genomes]
rs11685614	1.00[ASN][1000 genomes]
rs11885913	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11895188	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898653	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11901959	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12694100	0.93[EUR][1000 genomes]
rs12694101	0.97[EUR][1000 genomes]
rs13412043	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17699838	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17700235	0.84[AFR][1000 genomes]
rs1866046	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34218846	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3928183	1.00[ASN][1000 genomes]
rs59522113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59684347	1.00[ASN][1000 genomes]
rs6435435	1.00[ASN][1000 genomes]
rs66826643	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66887797	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67171462	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67202912	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6725418	0.94[EUR][1000 genomes]
rs6725527	0.84[AFR][1000 genomes]
rs67669827	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72976889	1.00[ASN][1000 genomes]
rs72989243	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73056463	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73070950	1.00[ASN][1000 genomes]
rs73070958	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73070962	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557303	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7609093	0.95[AFR][1000 genomes]
rs9646838	0.87[AFR][1000 genomes];1.00[ASN][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209120800-209129800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:209121200-209129600	Weak transcription	Left Ventricle	heart
3	chr2:209122200-209129600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:209122400-209129600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:209122600-209129400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:209122600-209129600	Weak transcription	Brain Angular Gyrus	brain
7	chr2:209122800-209129600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:209122800-209129600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:209122800-209129600	Weak transcription	Fetal Lung	lung
10	chr2:209123200-209127200	Weak transcription	HepG2	liver
11	chr2:209123200-209129800	Weak transcription	Fetal Heart	heart

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