Variant report

Variant	rs56381644
Chromosome Location	chr2:190176235-190176236
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10497699	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931402	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10931406	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10931410	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11675295	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11676812	0.83[EUR][1000 genomes]
rs11677073	0.93[ASN][1000 genomes]
rs11678388	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11681937	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11684417	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11684869	0.81[ASN][1000 genomes]
rs11687908	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11690774	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11693810	0.93[ASN][1000 genomes]
rs11695837	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12472232	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13406671	0.84[ASN][1000 genomes]
rs1515875	0.83[ASN][1000 genomes]
rs1519185	0.93[ASN][1000 genomes]
rs1520862	0.93[ASN][1000 genomes]
rs17198773	0.81[ASN][1000 genomes]
rs17198787	0.81[EUR][1000 genomes]
rs17198815	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17198829	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17270973	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17270987	0.83[EUR][1000 genomes]
rs17271008	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17271015	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1996576	0.93[ASN][1000 genomes]
rs2683013	0.93[ASN][1000 genomes]
rs2683014	0.93[ASN][1000 genomes]
rs28413975	0.93[ASN][1000 genomes]
rs35598715	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55851872	0.82[EUR][1000 genomes]
rs56252219	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59031473	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61130121	0.87[ASN][1000 genomes]
rs61528955	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62182060	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62182061	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62182066	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62182068	0.93[ASN][1000 genomes]
rs62182069	0.93[ASN][1000 genomes]
rs62182415	0.81[ASN][1000 genomes]
rs62182421	0.81[ASN][1000 genomes]
rs62182457	0.82[EUR][1000 genomes]
rs62182458	0.80[EUR][1000 genomes]
rs62182459	0.80[EUR][1000 genomes]
rs62183794	0.81[ASN][1000 genomes]
rs62183841	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62183844	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62183845	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62183846	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62183847	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62183848	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908368	0.87[ASN][1000 genomes]
rs72908382	0.87[ASN][1000 genomes]
rs72910347	0.80[EUR][1000 genomes]
rs72910360	0.82[EUR][1000 genomes]
rs72912280	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72912286	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72914135	0.87[ASN][1000 genomes]
rs72914141	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7564429	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7586853	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv961541	chr2:190172230-190181918	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190170200-190176400	Weak transcription	Fetal Thymus	thymus
2	chr2:190174200-190177400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:190174600-190176400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:190174600-190177400	Weak transcription	Dnd41	blood
5	chr2:190174800-190176400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:190175600-190178200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:190175800-190177600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr2:190175800-190179200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr2:190176200-190176400	ZNF genes & repeats	Pancreas	Pancrea
10	chr2:190176200-190177000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:190176200-190178400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:190176200-190178800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:190176200-190180600	Enhancers	Primary T cells from cord blood	blood

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