Variant report

Variant	rs7572366
Chromosome Location	chr2:213119367-213119368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10804203	1.00[CEU][hapmap]
rs10932424	1.00[CEU][hapmap]
rs10932427	1.00[CEU][hapmap]
rs12151478	0.80[YRI][hapmap]
rs1467273	1.00[CEU][hapmap]
rs1467275	1.00[CEU][hapmap]
rs1521635	1.00[EUR][1000 genomes]
rs1521637	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1568516	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16847874	1.00[CEU][hapmap]
rs16848072	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16848106	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16848142	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16848148	0.80[EUR][1000 genomes]
rs16848151	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17345590	0.88[EUR][1000 genomes]
rs17346524	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17346678	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17346733	1.00[CEU][hapmap]
rs17417710	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17418160	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17418591	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17418884	1.00[CEU][hapmap]
rs17419114	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1915743	1.00[CEU][hapmap]
rs2371569	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs55921734	0.91[EUR][1000 genomes]
rs73066368	0.91[EUR][1000 genomes]
rs7572084	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7572462	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7586610	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599021	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs931817	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875806	chr2:212997024-213211067	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1001718	chr2:213047033-213155985	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1004823	chr2:213052804-213181263	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv536138	chr2:213052804-213181263	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1006051	chr2:213052804-213273642	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv584346	chr2:213067749-213258622	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv998615	chr2:213081893-213202228	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv536139	chr2:213081893-213202228	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv1007853	chr2:213087904-213134413	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	nsv460074	chr2:213114645-213151230	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv584347	chr2:213114645-213151230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv834526	chr2:213114901-213237146	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	nsv834527	chr2:213115966-213334308	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1011111	chr2:213116621-213178740	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	nsv460075	chr2:213117976-213192660	Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	nsv584348	chr2:213117976-213192660	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
19	nsv584349	chr2:213117976-213200920	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213107800-213134000	Weak transcription	Aorta	Aorta
2	chr2:213114600-213130400	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:213115400-213121800	Weak transcription	Brain Substantia Nigra	brain
4	chr2:213115400-213134000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:213119000-213119400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:213119000-213119400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:213119000-213119400	Enhancers	Brain Angular Gyrus	brain

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