Variant report

Variant	rs57875000
Chromosome Location	chr2:98293773-98293774
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98284406..98287115-chr2:98292594..98294105,2	K562	blood:
2	chr2:98292657..98295040-chr2:98297024..98299611,2	K562	blood:
3	chr2:98292299..98294118-chr2:98294260..98295884,2	MCF-7	breast:
4	chr2:98288466..98292102-chr2:98293593..98297328,6	K562	blood:
5	chr2:98279513..98282179-chr2:98292256..98296228,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115073	Chromatin interaction
ENSG00000201806	Chromatin interaction
ENSG00000228486	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10460480	1.00[AMR][1000 genomes]
rs12999616	1.00[ASN][1000 genomes]
rs17022096	1.00[AMR][1000 genomes]
rs17022495	1.00[AMR][1000 genomes]
rs17028435	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028568	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028640	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028771	0.94[AFR][1000 genomes]
rs17028924	0.84[AFR][1000 genomes]
rs17029878	0.84[AFR][1000 genomes]
rs17031009	1.00[AMR][1000 genomes]
rs2167008	1.00[AMR][1000 genomes]
rs2309149	1.00[ASN][1000 genomes]
rs34459720	0.83[AFR][1000 genomes]
rs34516173	1.00[ASN][1000 genomes]
rs35958372	1.00[ASN][1000 genomes]
rs4069515	1.00[EUR][1000 genomes]
rs55637939	1.00[AMR][1000 genomes]
rs55757705	0.80[AFR][1000 genomes]
rs55766309	0.97[AFR][1000 genomes]
rs56045386	1.00[AMR][1000 genomes]
rs56233535	0.81[AFR][1000 genomes]
rs56381875	1.00[AMR][1000 genomes]
rs56717024	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56894046	1.00[AMR][1000 genomes]
rs57002448	1.00[AMR][1000 genomes]
rs57183691	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58059561	1.00[AMR][1000 genomes]
rs58383658	0.96[AFR][1000 genomes]
rs58738348	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58753916	1.00[AMR][1000 genomes]
rs59134572	1.00[AMR][1000 genomes]
rs59340312	1.00[AMR][1000 genomes]
rs60599690	1.00[AMR][1000 genomes]
rs60713338	1.00[AMR][1000 genomes]
rs60753457	1.00[EUR][1000 genomes]
rs61016336	1.00[AMR][1000 genomes]
rs6727416	1.00[EUR][1000 genomes]
rs72493438	1.00[ASN][1000 genomes]
rs72493444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72493445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72947062	1.00[EUR][1000 genomes]
rs72949064	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951140	1.00[AMR][1000 genomes]
rs73959761	1.00[AMR][1000 genomes]
rs73959772	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7563002	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582819	1.00[EUR][1000 genomes]
rs9678135	0.84[AFR][1000 genomes];1.00[AMR][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	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3451326	chr2:98289174-98304076	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98281000-98323800	Weak transcription	Gastric	stomach
2	chr2:98281400-98295200	Weak transcription	Esophagus	oesophagus
3	chr2:98281600-98294800	Weak transcription	Brain Anterior Caudate	brain
4	chr2:98281600-98295400	Weak transcription	Right Ventricle	heart
5	chr2:98281600-98298800	Weak transcription	Aorta	Aorta
6	chr2:98281800-98293800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:98281800-98296200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:98281800-98296200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:98282000-98293800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:98290400-98294600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:98291600-98298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:98291800-98294800	Weak transcription	K562	blood
13	chr2:98292200-98317800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:98293000-98293800	Enhancers	GM12878-XiMat	blood
15	chr2:98293200-98295000	Enhancers	HUVEC	blood vessel
16	chr2:98293400-98293800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:98293600-98293800	Genic enhancers	Fetal Muscle Leg	muscle
18	chr2:98293600-98294000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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