Variant report

Variant	rs13253200
Chromosome Location	chr8:4259633-4259634
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11775580	1.00[ASN][1000 genomes]
rs11776084	1.00[ASN][1000 genomes]
rs11786224	1.00[ASN][1000 genomes]
rs1238884	1.00[ASN][1000 genomes]
rs13248121	1.00[ASN][1000 genomes]
rs13253064	1.00[ASN][1000 genomes]
rs13254643	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256245	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263193	1.00[CEU][hapmap]
rs13266336	1.00[ASN][1000 genomes]
rs13269988	1.00[ASN][1000 genomes]
rs13270130	1.00[ASN][1000 genomes]
rs13275996	1.00[ASN][1000 genomes]
rs13276921	1.00[ASN][1000 genomes]
rs13276932	1.00[ASN][1000 genomes]
rs13277788	1.00[ASN][1000 genomes]
rs13277882	1.00[ASN][1000 genomes]
rs13278683	1.00[ASN][1000 genomes]
rs13278892	1.00[ASN][1000 genomes]
rs13279785	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280088	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281118	1.00[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281925	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17070159	1.00[ASN][1000 genomes]
rs34021491	1.00[ASN][1000 genomes]
rs34272328	1.00[EUR][1000 genomes]
rs34325842	1.00[ASN][1000 genomes]
rs34551084	1.00[ASN][1000 genomes]
rs34697055	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35237554	1.00[ASN][1000 genomes]
rs35472613	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35589069	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35993808	1.00[ASN][1000 genomes]
rs62480980	1.00[ASN][1000 genomes]
rs62480981	1.00[ASN][1000 genomes]
rs62480996	1.00[ASN][1000 genomes]
rs62480997	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73658849	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530863	chr8:3710810-4381378	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1032488	chr8:4072826-4328057	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1019677	chr8:4095786-4328057	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1015485	chr8:4127704-4272847	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv34054	chr8:4165205-4450873	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1024044	chr8:4207974-4272847	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2752255	chr8:4226976-4328216	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1034902	chr8:4233377-4261315	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv539384	chr8:4233377-4261315	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv889948	chr8:4240580-4261356	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv889949	chr8:4246903-4302217	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1024293	chr8:4255656-4309691	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv539385	chr8:4255656-4309691	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv465376	chr8:4258091-4272581	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
17	nsv609847	chr8:4258091-4272581	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
18	nsv521522	chr8:4258195-4262526	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4257600-4260400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:4258000-4260000	Weak transcription	Fetal Brain Female	brain
3	chr8:4258200-4265000	Weak transcription	Fetal Brain Male	brain
4	chr8:4259600-4259800	Enhancers	Fetal Heart	heart

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